WorldWideScience

Sample records for non-parametric linkage analysis

  1. Power of non-parametric linkage analysis in mapping genes contributing to human longevity in long-lived sib-pairs

    DEFF Research Database (Denmark)

    Tan, Qihua; Zhao, J H; Iachine, I

    2004-01-01

    This report investigates the power issue in applying the non-parametric linkage analysis of affected sib-pairs (ASP) [Kruglyak and Lander, 1995: Am J Hum Genet 57:439-454] to localize genes that contribute to human longevity using long-lived sib-pairs. Data were simulated by introducing a recently...... developed statistical model for measuring marker-longevity associations [Yashin et al., 1999: Am J Hum Genet 65:1178-1193], enabling direct power comparison between linkage and association approaches. The non-parametric linkage (NPL) scores estimated in the region harboring the causal allele are evaluated...... in case of a dominant effect. Although the power issue may depend heavily on the true genetic nature in maintaining survival, our study suggests that results from small-scale sib-pair investigations should be referred with caution, given the complexity of human longevity....

  2. Lottery spending: a non-parametric analysis.

    Science.gov (United States)

    Garibaldi, Skip; Frisoli, Kayla; Ke, Li; Lim, Melody

    2015-01-01

    We analyze the spending of individuals in the United States on lottery tickets in an average month, as reported in surveys. We view these surveys as sampling from an unknown distribution, and we use non-parametric methods to compare properties of this distribution for various demographic groups, as well as claims that some properties of this distribution are constant across surveys. We find that the observed higher spending by Hispanic lottery players can be attributed to differences in education levels, and we dispute previous claims that the top 10% of lottery players consistently account for 50% of lottery sales.

  3. Lottery spending: a non-parametric analysis.

    Directory of Open Access Journals (Sweden)

    Skip Garibaldi

    Full Text Available We analyze the spending of individuals in the United States on lottery tickets in an average month, as reported in surveys. We view these surveys as sampling from an unknown distribution, and we use non-parametric methods to compare properties of this distribution for various demographic groups, as well as claims that some properties of this distribution are constant across surveys. We find that the observed higher spending by Hispanic lottery players can be attributed to differences in education levels, and we dispute previous claims that the top 10% of lottery players consistently account for 50% of lottery sales.

  4. Using non-parametric methods in econometric production analysis

    DEFF Research Database (Denmark)

    Czekaj, Tomasz Gerard; Henningsen, Arne

    2012-01-01

    by investigating the relationship between the elasticity of scale and the farm size. We use a balanced panel data set of 371~specialised crop farms for the years 2004-2007. A non-parametric specification test shows that neither the Cobb-Douglas function nor the Translog function are consistent with the "true......Econometric estimation of production functions is one of the most common methods in applied economic production analysis. These studies usually apply parametric estimation techniques, which obligate the researcher to specify a functional form of the production function of which the Cobb...... parameter estimates, but also in biased measures which are derived from the parameters, such as elasticities. Therefore, we propose to use non-parametric econometric methods. First, these can be applied to verify the functional form used in parametric production analysis. Second, they can be directly used...

  5. Digital spectral analysis parametric, non-parametric and advanced methods

    CERN Document Server

    Castanié, Francis

    2013-01-01

    Digital Spectral Analysis provides a single source that offers complete coverage of the spectral analysis domain. This self-contained work includes details on advanced topics that are usually presented in scattered sources throughout the literature.The theoretical principles necessary for the understanding of spectral analysis are discussed in the first four chapters: fundamentals, digital signal processing, estimation in spectral analysis, and time-series models.An entire chapter is devoted to the non-parametric methods most widely used in industry.High resolution methods a

  6. Using non-parametric methods in econometric production analysis

    DEFF Research Database (Denmark)

    Czekaj, Tomasz Gerard; Henningsen, Arne

    2012-01-01

    Econometric estimation of production functions is one of the most common methods in applied economic production analysis. These studies usually apply parametric estimation techniques, which obligate the researcher to specify a functional form of the production function of which the Cobb-Douglas a......Econometric estimation of production functions is one of the most common methods in applied economic production analysis. These studies usually apply parametric estimation techniques, which obligate the researcher to specify a functional form of the production function of which the Cobb...... parameter estimates, but also in biased measures which are derived from the parameters, such as elasticities. Therefore, we propose to use non-parametric econometric methods. First, these can be applied to verify the functional form used in parametric production analysis. Second, they can be directly used...... to estimate production functions without the specification of a functional form. Therefore, they avoid possible misspecification errors due to the use of an unsuitable functional form. In this paper, we use parametric and non-parametric methods to identify the optimal size of Polish crop farms...

  7. Multi-Directional Non-Parametric Analysis of Agricultural Efficiency

    DEFF Research Database (Denmark)

    Balezentis, Tomas

    This thesis seeks to develop methodologies for assessment of agricultural efficiency and employ them to Lithuanian family farms. In particular, we focus on three particular objectives throughout the research: (i) to perform a fully non-parametric analysis of efficiency effects, (ii) to extend...... relative to labour, intermediate consumption and land (in some cases land was not treated as a discretionary input). These findings call for further research on relationships among financial structure, investment decisions, and efficiency in Lithuanian family farms. Application of different techniques...... of stochasticity associated with Lithuanian family farm performance. The former technique showed that the farms differed in terms of the mean values and variance of the efficiency scores over time with some clear patterns prevailing throughout the whole research period. The fuzzy Free Disposal Hull showed...

  8. Using non-parametric methods in econometric production analysis

    DEFF Research Database (Denmark)

    Czekaj, Tomasz Gerard; Henningsen, Arne

    -Douglas function nor the Translog function are consistent with the “true” relationship between the inputs and the output in our data set. We solve this problem by using non-parametric regression. This approach delivers reasonable results, which are on average not too different from the results of the parametric......Econometric estimation of production functions is one of the most common methods in applied economic production analysis. These studies usually apply parametric estimation techniques, which obligate the researcher to specify the functional form of the production function. Most often, the Cobb...... results—including measures that are of interest of applied economists, such as elasticities. Therefore, we propose to use nonparametric econometric methods. First, they can be applied to verify the functional form used in parametric estimations of production functions. Second, they can be directly used...

  9. Non-parametric analysis of rating transition and default data

    DEFF Research Database (Denmark)

    Fledelius, Peter; Lando, David; Perch Nielsen, Jens

    2004-01-01

    We demonstrate the use of non-parametric intensity estimation - including construction of pointwise confidence sets - for analyzing rating transition data. We find that transition intensities away from the class studied here for illustration strongly depend on the direction of the previous move b...... but that this dependence vanishes after 2-3 years....

  10. Non-parametric analysis of rating transition and default data

    DEFF Research Database (Denmark)

    Fledelius, Peter; Lando, David; Perch Nielsen, Jens

    2004-01-01

    We demonstrate the use of non-parametric intensity estimation - including construction of pointwise confidence sets - for analyzing rating transition data. We find that transition intensities away from the class studied here for illustration strongly depend on the direction of the previous move...

  11. ANALYSIS OF TIED DATA: AN ALTERNATIVE NON-PARAMETRIC APPROACH

    Directory of Open Access Journals (Sweden)

    I. C. A. OYEKA

    2012-02-01

    Full Text Available This paper presents a non-parametric statistical method of analyzing two-sample data that makes provision for the possibility of ties in the data. A test statistic is developed and shown to be free of the effect of any possible ties in the data. An illustrative example is provided and the method is shown to compare favourably with its competitor; the Mann-Whitney test and is more powerful than the latter when there are ties.

  12. Non-parametric production analysis of pesticides use in the Netherlands

    NARCIS (Netherlands)

    Oude Lansink, A.G.J.M.; Silva, E.

    2004-01-01

    Many previous empirical studies on the productivity of pesticides suggest that pesticides are under-utilized in agriculture despite the general held believe that these inputs are substantially over-utilized. This paper uses data envelopment analysis (DEA) to calculate non-parametric measures of the

  13. Multi-Directional Non-Parametric Analysis of Agricultural Efficiency

    DEFF Research Database (Denmark)

    Balezentis, Tomas

    the Multi-Directional Efficiency Analysis approach, (iii) to account for uncertainties via the use of probabilistic and fuzzy measures. Therefore, the thesis encompass six papers dedicated to (the combinations of) these objectives. One of the main contributions of this thesis is a number of extensions...... relative to labour, intermediate consumption and land (in some cases land was not treated as a discretionary input). These findings call for further research on relationships among financial structure, investment decisions, and efficiency in Lithuanian family farms. Application of different techniques...

  14. Using non-parametric methods in econometric production analysis

    DEFF Research Database (Denmark)

    Czekaj, Tomasz Gerard; Henningsen, Arne

    Econometric estimation of production functions is one of the most common methods in applied economic production analysis. These studies usually apply parametric estimation techniques, which obligate the researcher to specify the functional form of the production function. Most often, the Cobb......-Douglas or the Translog production function is used. However, the specification of a functional form for the production function involves the risk of specifying a functional form that is not similar to the “true” relationship between the inputs and the output. This misspecification might result in biased estimation...... results—including measures that are of interest of applied economists, such as elasticities. Therefore, we propose to use nonparametric econometric methods. First, they can be applied to verify the functional form used in parametric estimations of production functions. Second, they can be directly used...

  15. Generalized Correlation Coefficient for Non-Parametric Analysis of Microarray Time-Course Data.

    Science.gov (United States)

    Tan, Qihua; Thomassen, Mads; Burton, Mark; Mose, Kristian Fredløv; Andersen, Klaus Ejner; Hjelmborg, Jacob; Kruse, Torben

    2017-06-06

    Modeling complex time-course patterns is a challenging issue in microarray study due to complex gene expression patterns in response to the time-course experiment. We introduce the generalized correlation coefficient and propose a combinatory approach for detecting, testing and clustering the heterogeneous time-course gene expression patterns. Application of the method identified nonlinear time-course patterns in high agreement with parametric analysis. We conclude that the non-parametric nature in the generalized correlation analysis could be an useful and efficient tool for analyzing microarray time-course data and for exploring the complex relationships in the omics data for studying their association with disease and health.

  16. Generalized Correlation Coefficient for Non-Parametric Analysis of Microarray Time-Course Data

    DEFF Research Database (Denmark)

    Tan, Qihua; Thomassen, Mads; Burton, Mark

    2017-01-01

    Modeling complex time-course patterns is a challenging issue in microarray study due to complex gene expression patterns in response to the time-course experiment. We introduce the generalized correlation coefficient and propose a combinatory approach for detecting, testing and clustering...... the heterogeneous time-course gene expression patterns. Application of the method identified nonlinear time-course patterns in high agreement with parametric analysis. We conclude that the non-parametric nature in the generalized correlation analysis could be an useful and efficient tool for analyzing microarray...... time-course data and for exploring the complex relationships in the omics data for studying their association with disease and health....

  17. Generalized Correlation Coefficient for Non-Parametric Analysis of Microarray Time-Course Data

    DEFF Research Database (Denmark)

    Tan, Qihua; Thomassen, Mads; Burton, Mark

    2017-01-01

    Modeling complex time-course patterns is a challenging issue in microarray study due to complex gene expression patterns in response to the time-course experiment. We introduce the generalized correlation coefficient and propose a combinatory approach for detecting, testing and clustering...... the heterogeneous time-course gene expression patterns. Application of the method identified nonlinear time-course patterns in high agreement with parametric analysis. We conclude that the non-parametric nature in the generalized correlation analysis could be an useful and efficient tool for analyzing microarray...

  18. Non-parametric frequency analysis of extreme values for integrated disaster management considering probable maximum events

    Science.gov (United States)

    Takara, K. T.

    2015-12-01

    This paper describes a non-parametric frequency analysis method for hydrological extreme-value samples with a size larger than 100, verifying the estimation accuracy with a computer intensive statistics (CIS) resampling such as the bootstrap. Probable maximum values are also incorporated into the analysis for extreme events larger than a design level of flood control. Traditional parametric frequency analysis methods of extreme values include the following steps: Step 1: Collecting and checking extreme-value data; Step 2: Enumerating probability distributions that would be fitted well to the data; Step 3: Parameter estimation; Step 4: Testing goodness of fit; Step 5: Checking the variability of quantile (T-year event) estimates by the jackknife resampling method; and Step_6: Selection of the best distribution (final model). The non-parametric method (NPM) proposed here can skip Steps 2, 3, 4 and 6. Comparing traditional parameter methods (PM) with the NPM, this paper shows that PM often underestimates 100-year quantiles for annual maximum rainfall samples with records of more than 100 years. Overestimation examples are also demonstrated. The bootstrap resampling can do bias correction for the NPM and can also give the estimation accuracy as the bootstrap standard error. This NPM has advantages to avoid various difficulties in above-mentioned steps in the traditional PM. Probable maximum events are also incorporated into the NPM as an upper bound of the hydrological variable. Probable maximum precipitation (PMP) and probable maximum flood (PMF) can be a new parameter value combined with the NPM. An idea how to incorporate these values into frequency analysis is proposed for better management of disasters that exceed the design level. The idea stimulates more integrated approach by geoscientists and statisticians as well as encourages practitioners to consider the worst cases of disasters in their disaster management planning and practices.

  19. Trend Analysis of Golestan's Rivers Discharges Using Parametric and Non-parametric Methods

    Science.gov (United States)

    Mosaedi, Abolfazl; Kouhestani, Nasrin

    2010-05-01

    One of the major problems in human life is climate changes and its problems. Climate changes will cause changes in rivers discharges. The aim of this research is to investigate the trend analysis of seasonal and yearly rivers discharges of Golestan province (Iran). In this research four trend analysis method including, conjunction point, linear regression, Wald-Wolfowitz and Mann-Kendall, for analyzing of river discharges in seasonal and annual periods in significant level of 95% and 99% were applied. First, daily discharge data of 12 hydrometrics stations with a length of 42 years (1965-2007) were selected, after some common statistical tests such as, homogeneity test (by applying G-B and M-W tests), the four mentioned trends analysis tests were applied. Results show that in all stations, for summer data time series, there are decreasing trends with a significant level of 99% according to Mann-Kendall (M-K) test. For autumn time series data, all four methods have similar results. For other periods, the results of these four tests were more or less similar together. While, for some stations the results of tests were different. Keywords: Trend Analysis, Discharge, Non-parametric methods, Wald-Wolfowitz, The Mann-Kendall test, Golestan Province.

  20. Non-parametric seismic hazard analysis in the presence of incomplete data

    Science.gov (United States)

    Yazdani, Azad; Mirzaei, Sajjad; Dadkhah, Koroush

    2017-01-01

    The distribution of earthquake magnitudes plays a crucial role in the estimation of seismic hazard parameters. Due to the complexity of earthquake magnitude distribution, non-parametric approaches are recommended over classical parametric methods. The main deficiency of the non-parametric approach is the lack of complete magnitude data in almost all cases. This study aims to introduce an imputation procedure for completing earthquake catalog data that will allow the catalog to be used for non-parametric density estimation. Using a Monte Carlo simulation, the efficiency of introduced approach is investigated. This study indicates that when a magnitude catalog is incomplete, the imputation procedure can provide an appropriate tool for seismic hazard assessment. As an illustration, the imputation procedure was applied to estimate earthquake magnitude distribution in Tehran, the capital city of Iran.

  1. APPLICATION OF PARAMETRIC AND NON-PARAMETRIC BENCHMARKING METHODS IN COST EFFICIENCY ANALYSIS OF THE ELECTRICITY DISTRIBUTION SECTOR

    Directory of Open Access Journals (Sweden)

    Andrea Furková

    2007-06-01

    Full Text Available This paper explores the aplication of parametric and non-parametric benchmarking methods in measuring cost efficiency of Slovak and Czech electricity distribution companies. We compare the relative cost efficiency of Slovak and Czech distribution companies using two benchmarking methods: the non-parametric Data Envelopment Analysis (DEA and the Stochastic Frontier Analysis (SFA as the parametric approach. The first part of analysis was based on DEA models. Traditional cross-section CCR and BCC model were modified to cost efficiency estimation. In further analysis we focus on two versions of stochastic frontier cost functioin using panel data: MLE model and GLS model. These models have been applied to an unbalanced panel of 11 (Slovakia 3 and Czech Republic 8 regional electricity distribution utilities over a period from 2000 to 2004. The differences in estimated scores, parameters and ranking of utilities were analyzed. We observed significant differences between parametric methods and DEA approach.

  2. Non-parametric trend analysis of water quality data of rivers in Kansas

    Science.gov (United States)

    Yu, Y.-S.; Zou, S.; Whittemore, D.

    1993-01-01

    Surface water quality data for 15 sampling stations in the Arkansas, Verdigris, Neosho, and Walnut river basins inside the state of Kansas were analyzed to detect trends (or lack of trends) in 17 major constituents by using four different non-parametric methods. The results show that concentrations of specific conductance, total dissolved solids, calcium, total hardness, sodium, potassium, alkalinity, sulfate, chloride, total phosphorus, ammonia plus organic nitrogen, and suspended sediment generally have downward trends. Some of the downward trends are related to increases in discharge, while others could be caused by decreases in pollution sources. Homogeneity tests show that both station-wide trends and basinwide trends are non-homogeneous. ?? 1993.

  3. Robust non-parametric one-sample tests for the analysis of recurrent events.

    Science.gov (United States)

    Rebora, Paola; Galimberti, Stefania; Valsecchi, Maria Grazia

    2010-12-30

    One-sample non-parametric tests are proposed here for inference on recurring events. The focus is on the marginal mean function of events and the basis for inference is the standardized distance between the observed and the expected number of events under a specified reference rate. Different weights are considered in order to account for various types of alternative hypotheses on the mean function of the recurrent events process. A robust version and a stratified version of the test are also proposed. The performance of these tests was investigated through simulation studies under various underlying event generation processes, such as homogeneous and nonhomogeneous Poisson processes, autoregressive and renewal processes, with and without frailty effects. The robust versions of the test have been shown to be suitable in a wide variety of event generating processes. The motivating context is a study on gene therapy in a very rare immunodeficiency in children, where a major end-point is the recurrence of severe infections. Robust non-parametric one-sample tests for recurrent events can be useful to assess efficacy and especially safety in non-randomized studies or in epidemiological studies for comparison with a standard population.

  4. Climatic, parametric and non-parametric analysis of energy performance of double-glazed windows in different climates

    Directory of Open Access Journals (Sweden)

    Saeed Banihashemi

    2015-12-01

    Full Text Available In line with the growing global trend toward energy efficiency in buildings, this paper aims to first; investigate the energy performance of double-glazed windows in different climates and second; analyze the most dominant used parametric and non-parametric tests in dimension reduction for simulating this component. A four-story building representing the conventional type of residential apartments for four climates of cold, temperate, hot-arid and hot-humid was selected for simulation. 10 variables of U-factor, SHGC, emissivity, visible transmittance, monthly average dry bulb temperature, monthly average percent humidity, monthly average wind speed, monthly average direct solar radiation, monthly average diffuse solar radiation and orientation constituted the parameters considered in the calculation of cooling and heating loads of the case. Design of Experiment and Principal Component Analysis methods were applied to find the most significant factors and reduction dimension of initial variables. It was observed that in two climates of temperate and hot-arid, using double glazed windows was beneficial in both cold and hot months whereas in cold and hot-humid climates where heating and cooling loads are dominant respectively, they were advantageous in only those dominant months. Furthermore, an inconsistency was revealed between parametric and non-parametric tests in terms of identifying the most significant variables.

  5. 'nparACT' package for R: A free software tool for the non-parametric analysis of actigraphy data.

    Science.gov (United States)

    Blume, Christine; Santhi, Nayantara; Schabus, Manuel

    2016-01-01

    For many studies, participants' sleep-wake patterns are monitored and recorded prior to, during and following an experimental or clinical intervention using actigraphy, i.e. the recording of data generated by movements. Often, these data are merely inspected visually without computation of descriptive parameters, in part due to the lack of user-friendly software. To address this deficit, we developed a package for R Core Team [6], that allows computing several non-parametric measures from actigraphy data. Specifically, it computes the interdaily stability (IS), intradaily variability (IV) and relative amplitude (RA) of activity and gives the start times and average activity values of M10 (i.e. the ten hours with maximal activity) and L5 (i.e. the five hours with least activity). Two functions compute these 'classical' parameters and handle either single or multiple files. Two other functions additionally allow computing an L-value (i.e. the least activity value) for a user-defined time span termed 'Lflex' value. A plotting option is included in all functions. The package can be downloaded from the Comprehensive R Archives Network (CRAN). •The package 'nparACT' for R serves the non-parametric analysis of actigraphy data.•Computed parameters include interdaily stability (IS), intradaily variability (IV) and relative amplitude (RA) as well as start times and average activity during the 10 h with maximal and the 5 h with minimal activity (i.e. M10 and L5).

  6. Transit Timing Observations from Kepler: II. Confirmation of Two Multiplanet Systems via a Non-parametric Correlation Analysis

    CERN Document Server

    Ford, Eric B; Steffen, Jason H; Carter, Joshua A; Fressin, Francois; Holman, Matthew J; Lissauer, Jack J; Moorhead, Althea V; Morehead, Robert C; Ragozzine, Darin; Rowe, Jason F; Welsh, William F; Allen, Christopher; Batalha, Natalie M; Borucki, William J; Bryson, Stephen T; Buchhave, Lars A; Burke, Christopher J; Caldwell, Douglas A; Charbonneau, David; Clarke, Bruce D; Cochran, William D; Désert, Jean-Michel; Endl, Michael; Everett, Mark E; Fischer, Debra A; Gautier, Thomas N; Gilliland, Ron L; Jenkins, Jon M; Haas, Michael R; Horch, Elliott; Howell, Steve B; Ibrahim, Khadeejah A; Isaacson, Howard; Koch, David G; Latham, David W; Li, Jie; Lucas, Philip; MacQueen, Phillip J; Marcy, Geoffrey W; McCauliff, Sean; Mullally, Fergal R; Quinn, Samuel N; Quintana, Elisa; Shporer, Avi; Still, Martin; Tenenbaum, Peter; Thompson, Susan E; Torres, Guillermo; Twicken, Joseph D; Wohler, Bill

    2012-01-01

    We present a new method for confirming transiting planets based on the combination of transit timingn variations (TTVs) and dynamical stability. Correlated TTVs provide evidence that the pair of bodies are in the same physical system. Orbital stability provides upper limits for the masses of the transiting companions that are in the planetary regime. This paper describes a non-parametric technique for quantifying the statistical significance of TTVs based on the correlation of two TTV data sets. We apply this method to an analysis of the transit timing variations of two stars with multiple transiting planet candidates identified by Kepler. We confirm four transiting planets in two multiple planet systems based on their TTVs and the constraints imposed by dynamical stability. An additional three candidates in these same systems are not confirmed as planets, but are likely to be validated as real planets once further observations and analyses are possible. If all were confirmed, these systems would be near 4:6:...

  7. A Non-Parametric and Entropy Based Analysis of the Relationship between the VIX and S&P 500

    Directory of Open Access Journals (Sweden)

    Abhay K. Singh

    2013-10-01

    Full Text Available This paper features an analysis of the relationship between the S&P 500 Index and the VIX using daily data obtained from the CBOE website and SIRCA (The Securities Industry Research Centre of the Asia Pacific. We explore the relationship between the S&P 500 daily return series and a similar series for the VIX in terms of a long sample drawn from the CBOE from 1990 to mid 2011 and a set of returns from SIRCA’s TRTH datasets from March 2005 to-date. This shorter sample, which captures the behavior of the new VIX, introduced in 2003, is divided into four sub-samples which permit the exploration of the impact of the Global Financial Crisis. We apply a series of non-parametric based tests utilizing entropy based metrics. These suggest that the PDFs and CDFs of these two return distributions change shape in various subsample periods. The entropy and MI statistics suggest that the degree of uncertainty attached to these distributions changes through time and using the S&P 500 return as the dependent variable, that the amount of information obtained from the VIX changes with time and reaches a relative maximum in the most recent period from 2011 to 2012. The entropy based non-parametric tests of the equivalence of the two distributions and their symmetry all strongly reject their respective nulls. The results suggest that parametric techniques do not adequately capture the complexities displayed in the behavior of these series. This has practical implications for hedging utilizing derivatives written on the VIX.

  8. Non-parametric analysis of infrared spectra for recognition of glass and glass ceramic fragments in recycling plants.

    Science.gov (United States)

    Farcomeni, Alessio; Serranti, Silvia; Bonifazi, Giuseppe

    2008-01-01

    Glass ceramic detection in glass recycling plants represents a still unsolved problem, as glass ceramic material looks like normal glass and is usually detected only by specialized personnel. The presence of glass-like contaminants inside waste glass products, resulting from both industrial and differentiated urban waste collection, increases process production costs and reduces final product quality. In this paper an innovative approach for glass ceramic recognition, based on the non-parametric analysis of infrared spectra, is proposed and investigated. The work was specifically addressed to the spectral classification of glass and glass ceramic fragments collected in an actual recycling plant from three different production lines: flat glass, colored container-glass and white container-glass. The analyses, carried out in the near and mid-infrared (NIR-MIR) spectral field (1280-4480 nm), show that glass ceramic and glass fragments can be recognized by applying a wavelet transform, with a small classification error. Moreover, a method for selecting only a small subset of relevant wavelength ratios is suggested, allowing the conduct of a fast recognition of the two classes of materials. The results show how the proposed approach can be utilized to develop a classification engine to be integrated inside a hardware and software sorting architecture for fast "on-line" ceramic glass recognition and separation.

  9. The Efficiency Change of Italian Public Universities in the New Millennium: A Non-Parametric Analysis

    Science.gov (United States)

    Guccio, Calogero; Martorana, Marco Ferdinando; Mazza, Isidoro

    2017-01-01

    The paper assesses the evolution of efficiency of Italian public universities for the period 2000-2010. It aims at investigating whether their levels of efficiency showed signs of convergence, and if the well-known disparity between northern and southern regions decreased. For this purpose, we use a refinement of data envelopment analysis, namely…

  10. Applications of non-parametric statistics and analysis of variance on sample variances

    Science.gov (United States)

    Myers, R. H.

    1981-01-01

    Nonparametric methods that are available for NASA-type applications are discussed. An attempt will be made here to survey what can be used, to attempt recommendations as to when each would be applicable, and to compare the methods, when possible, with the usual normal-theory procedures that are avavilable for the Gaussion analog. It is important here to point out the hypotheses that are being tested, the assumptions that are being made, and limitations of the nonparametric procedures. The appropriateness of doing analysis of variance on sample variances are also discussed and studied. This procedure is followed in several NASA simulation projects. On the surface this would appear to be reasonably sound procedure. However, difficulties involved center around the normality problem and the basic homogeneous variance assumption that is mase in usual analysis of variance problems. These difficulties discussed and guidelines given for using the methods.

  11. Non-parametric group-level statistics for source-resolved ERP analysis.

    Science.gov (United States)

    Lee, Clement; Miyakoshi, Makoto; Delorme, Arnaud; Cauwenberghs, Gert; Makeig, Scott

    2015-01-01

    We have developed a new statistical framework for group-level event-related potential (ERP) analysis in EEGLAB. The framework calculates the variance of scalp channel signals accounted for by the activity of homogeneous clusters of sources found by independent component analysis (ICA). When ICA data decomposition is performed on each subject's data separately, functionally equivalent ICs can be grouped into EEGLAB clusters. Here, we report a new addition (statPvaf) to the EEGLAB plug-in std_envtopo to enable inferential statistics on main effects and interactions in event related potentials (ERPs) of independent component (IC) processes at the group level. We demonstrate the use of the updated plug-in on simulated and actual EEG data.

  12. Zero- vs. one-dimensional, parametric vs. non-parametric, and confidence interval vs. hypothesis testing procedures in one-dimensional biomechanical trajectory analysis.

    Science.gov (United States)

    Pataky, Todd C; Vanrenterghem, Jos; Robinson, Mark A

    2015-05-01

    Biomechanical processes are often manifested as one-dimensional (1D) trajectories. It has been shown that 1D confidence intervals (CIs) are biased when based on 0D statistical procedures, and the non-parametric 1D bootstrap CI has emerged in the Biomechanics literature as a viable solution. The primary purpose of this paper was to clarify that, for 1D biomechanics datasets, the distinction between 0D and 1D methods is much more important than the distinction between parametric and non-parametric procedures. A secondary purpose was to demonstrate that a parametric equivalent to the 1D bootstrap exists in the form of a random field theory (RFT) correction for multiple comparisons. To emphasize these points we analyzed six datasets consisting of force and kinematic trajectories in one-sample, paired, two-sample and regression designs. Results showed, first, that the 1D bootstrap and other 1D non-parametric CIs were qualitatively identical to RFT CIs, and all were very different from 0D CIs. Second, 1D parametric and 1D non-parametric hypothesis testing results were qualitatively identical for all six datasets. Last, we highlight the limitations of 1D CIs by demonstrating that they are complex, design-dependent, and thus non-generalizable. These results suggest that (i) analyses of 1D data based on 0D models of randomness are generally biased unless one explicitly identifies 0D variables before the experiment, and (ii) parametric and non-parametric 1D hypothesis testing provide an unambiguous framework for analysis when one׳s hypothesis explicitly or implicitly pertains to whole 1D trajectories.

  13. Transit Timing Observations from Kepler: II. Confirmation of Two Multiplanet Systems via a Non-parametric Correlation Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Ford, Eric B.; /Florida U.; Fabrycky, Daniel C.; /Lick Observ.; Steffen, Jason H.; /Fermilab; Carter, Joshua A.; /Harvard-Smithsonian Ctr. Astrophys.; Fressin, Francois; /Harvard-Smithsonian Ctr. Astrophys.; Holman, Matthew J.; /Harvard-Smithsonian Ctr. Astrophys.; Lissauer, Jack J.; /NASA, Ames; Moorhead, Althea V.; /Florida U.; Morehead, Robert C.; /Florida U.; Ragozzine, Darin; /Harvard-Smithsonian Ctr. Astrophys.; Rowe, Jason F.; /NASA, Ames /SETI Inst., Mtn. View /San Diego State U., Astron. Dept.

    2012-01-01

    We present a new method for confirming transiting planets based on the combination of transit timing variations (TTVs) and dynamical stability. Correlated TTVs provide evidence that the pair of bodies are in the same physical system. Orbital stability provides upper limits for the masses of the transiting companions that are in the planetary regime. This paper describes a non-parametric technique for quantifying the statistical significance of TTVs based on the correlation of two TTV data sets. We apply this method to an analysis of the transit timing variations of two stars with multiple transiting planet candidates identified by Kepler. We confirm four transiting planets in two multiple planet systems based on their TTVs and the constraints imposed by dynamical stability. An additional three candidates in these same systems are not confirmed as planets, but are likely to be validated as real planets once further observations and analyses are possible. If all were confirmed, these systems would be near 4:6:9 and 2:4:6:9 period commensurabilities. Our results demonstrate that TTVs provide a powerful tool for confirming transiting planets, including low-mass planets and planets around faint stars for which Doppler follow-up is not practical with existing facilities. Continued Kepler observations will dramatically improve the constraints on the planet masses and orbits and provide sensitivity for detecting additional non-transiting planets. If Kepler observations were extended to eight years, then a similar analysis could likely confirm systems with multiple closely spaced, small transiting planets in or near the habitable zone of solar-type stars.

  14. Linkage and association analysis of CACNG3 in childhood absence epilepsy

    DEFF Research Database (Denmark)

    Everett, Kate V; Chioza, Barry; Aicardi, Jean

    2007-01-01

    and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD = 3.54, alpha = 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P ... and the 65 nuclear pedigrees. Evidence for transmission disequilibrium (P

  15. Transit Timing Observations From Kepler: Ii. Confirmation of Two Multiplanet Systems via a Non-Parametric Correlation Analysis

    OpenAIRE

    Ford, Eric B.; Fabrycky, Daniel C.; Steffen, Jason H.; Carter, Joshua A.; Fressin, Francois; Holman, Matthew Jon; Lissauer, Jack J.; Moorhead, Althea V.; Morehead, Robert C.; Ragozzine, Darin; Rowe, Jason F.; Welsh, William F.; Allen, Christopher; Batalha, Natalie M.; Borucki, William J.

    2012-01-01

    We present a new method for confirming transiting planets based on the combination of transit timingn variations (TTVs) and dynamical stability. Correlated TTVs provide evidence that the pair of bodies are in the same physical system. Orbital stability provides upper limits for the masses of the transiting companions that are in the planetary regime. This paper describes a non-parametric technique for quantifying the statistical significance of TTVs based on the correlation of two TTV data se...

  16. A non-parametric meta-analysis approach for combining independent microarray datasets: application using two microarray datasets pertaining to chronic allograft nephropathy

    Directory of Open Access Journals (Sweden)

    Archer Kellie J

    2008-02-01

    Full Text Available Abstract Background With the popularity of DNA microarray technology, multiple groups of researchers have studied the gene expression of similar biological conditions. Different methods have been developed to integrate the results from various microarray studies, though most of them rely on distributional assumptions, such as the t-statistic based, mixed-effects model, or Bayesian model methods. However, often the sample size for each individual microarray experiment is small. Therefore, in this paper we present a non-parametric meta-analysis approach for combining data from independent microarray studies, and illustrate its application on two independent Affymetrix GeneChip studies that compared the gene expression of biopsies from kidney transplant recipients with chronic allograft nephropathy (CAN to those with normal functioning allograft. Results The simulation study comparing the non-parametric meta-analysis approach to a commonly used t-statistic based approach shows that the non-parametric approach has better sensitivity and specificity. For the application on the two CAN studies, we identified 309 distinct genes that expressed differently in CAN. By applying Fisher's exact test to identify enriched KEGG pathways among those genes called differentially expressed, we found 6 KEGG pathways to be over-represented among the identified genes. We used the expression measurements of the identified genes as predictors to predict the class labels for 6 additional biopsy samples, and the predicted results all conformed to their pathologist diagnosed class labels. Conclusion We present a new approach for combining data from multiple independent microarray studies. This approach is non-parametric and does not rely on any distributional assumptions. The rationale behind the approach is logically intuitive and can be easily understood by researchers not having advanced training in statistics. Some of the identified genes and pathways have been

  17. A non-parametric meta-analysis approach for combining independent microarray datasets: application using two microarray datasets pertaining to chronic allograft nephropathy.

    Science.gov (United States)

    Kong, Xiangrong; Mas, Valeria; Archer, Kellie J

    2008-02-26

    With the popularity of DNA microarray technology, multiple groups of researchers have studied the gene expression of similar biological conditions. Different methods have been developed to integrate the results from various microarray studies, though most of them rely on distributional assumptions, such as the t-statistic based, mixed-effects model, or Bayesian model methods. However, often the sample size for each individual microarray experiment is small. Therefore, in this paper we present a non-parametric meta-analysis approach for combining data from independent microarray studies, and illustrate its application on two independent Affymetrix GeneChip studies that compared the gene expression of biopsies from kidney transplant recipients with chronic allograft nephropathy (CAN) to those with normal functioning allograft. The simulation study comparing the non-parametric meta-analysis approach to a commonly used t-statistic based approach shows that the non-parametric approach has better sensitivity and specificity. For the application on the two CAN studies, we identified 309 distinct genes that expressed differently in CAN. By applying Fisher's exact test to identify enriched KEGG pathways among those genes called differentially expressed, we found 6 KEGG pathways to be over-represented among the identified genes. We used the expression measurements of the identified genes as predictors to predict the class labels for 6 additional biopsy samples, and the predicted results all conformed to their pathologist diagnosed class labels. We present a new approach for combining data from multiple independent microarray studies. This approach is non-parametric and does not rely on any distributional assumptions. The rationale behind the approach is logically intuitive and can be easily understood by researchers not having advanced training in statistics. Some of the identified genes and pathways have been reported to be relevant to renal diseases. Further study on the

  18. Parametric versus non-parametric simulation

    OpenAIRE

    Dupeux, Bérénice; Buysse, Jeroen

    2014-01-01

    Most of ex-ante impact assessment policy models have been based on a parametric approach. We develop a novel non-parametric approach, called Inverse DEA. We use non parametric efficiency analysis for determining the farm’s technology and behaviour. Then, we compare the parametric approach and the Inverse DEA models to a known data generating process. We use a bio-economic model as a data generating process reflecting a real world situation where often non-linear relationships exist. Results s...

  19. Linkage analysis of chromosome 14 and essential hypertension in Chinese population

    Institute of Scientific and Technical Information of China (English)

    ZHAO Wei-yan; HUANG Jian-feng; GE Dong-liang; SU Shao-yong; LI Biao; GU Dong-feng

    2005-01-01

    Background Hypertension is a complex biological trait that influenced by multiple factors. The encouraging results for hypertension research showed that the linkage analysis can be used to replicate other studies and discover new genetic risk factors. Previous studies linked human chromosome 14 to essential hypertension or blood pressure traits. With a Chinese population, we tried to replicate these findings. Methods A linkage scan was performed on chromosome 14 with 14-microsatellite markers with a density of about 10 centi Morgen (cM) in 147 Chinese hypertensive nuclear families. Multipoint non-parametric linkage analysis and exclusion mapping were performed with the GENEHUNTER software, whereas quantitative analysis was performed with the variance component method integrated in the SOLAR package. Results In the qualitative analysis, the highest non-parametric linkage score is 1.0 (P=0.14) at D14S261 in the single point analysis, and no loci achieved non-parametric linkage score more than 1.0 in the multipoint analysis. Maximum-likelihood mapping showed no significant results, either. Subsequently the traditional exclusion criteria of the log-of-the-odds score-2 were adopted, and the chromosome 14 with λs≥2.4 was excluded. In the quantitative analysis of blood pressure with the SOLAR software, two-point analysis and multipoint analysis suggested no evidence for linkage occurred on chromosome 14 for systolic and diastolic blood pressure. Conclusion There was no substantial evidence to support the linkage of chromosome 14 and essential hypertension or blood pressure trait in Chinese hypertensive subjects in this study.

  20. A Formalization of Linkage Analysis

    DEFF Research Database (Denmark)

    Ingolfsdottir, Anna; Christensen, A.I.; Hansen, Jens A.

    In this report a formalization of genetic linkage analysis is introduced. Linkage analysis is a computationally hard biomathematical method, which purpose is to locate genes on the human genome. It is rooted in the new area of bioinformatics and no formalization of the method has previously been ...

  1. A Formalization of Linkage Analysis

    DEFF Research Database (Denmark)

    Ingolfsdottir, Anna; Christensen, A.I.; Hansen, Jens A.

    In this report a formalization of genetic linkage analysis is introduced. Linkage analysis is a computationally hard biomathematical method, which purpose is to locate genes on the human genome. It is rooted in the new area of bioinformatics and no formalization of the method has previously been...

  2. Non-Parametric Inference in Astrophysics

    CERN Document Server

    Wasserman, L H; Nichol, R C; Genovese, C; Jang, W; Connolly, A J; Moore, A W; Schneider, J; Wasserman, Larry; Miller, Christopher J.; Nichol, Robert C.; Genovese, Chris; Jang, Woncheol; Connolly, Andrew J.; Moore, Andrew W.; Schneider, Jeff; group, the PICA

    2001-01-01

    We discuss non-parametric density estimation and regression for astrophysics problems. In particular, we show how to compute non-parametric confidence intervals for the location and size of peaks of a function. We illustrate these ideas with recent data on the Cosmic Microwave Background. We also briefly discuss non-parametric Bayesian inference.

  3. 非参数化方法在 DNB 传递分析中的应用%Non-parametric Method Used in DNB Propagation Analysis

    Institute of Scientific and Technical Information of China (English)

    刘俊强; 黄禹

    2014-01-01

    Deciding the internal pressure probability distribution of the fuel rod is a fundamental work in the DNB propagation analysis using Monte Carlo method .The traditional parametric method is used to assume that the internal pressure probability of all rods can be characterized by a normal distribution .But this is not always the case , sometimes there is far more differences between normal distribution and the real one . However ,a new method ,the non-parametric method was used in the treatment of the rod internal pressure data because of its applicability anyw here and good precision in the case of large samples ,and the results show that it is more conservative to use non-parametric method than parametric method in DNB propagation analysis .%采用蒙特卡罗方法进行偏离泡核沸腾(DNB)传递分析中一个最基本的工作是确定燃料棒内压的概率分布。通常假设燃料棒的内压服从正态分布即传统的参数化方法。但燃料棒的内压不总是满足正态分布或与正态分布相差较远。为克服这一不足,本工作采用一种新的方法即非参数化的方法计算燃料棒内压的概率分布。通过对压水堆核电厂燃料棒内压数据的非参数化处理,得到燃料棒内压的概率分布并进行DNB传递分析。由计算结果得出:在DNB传递分析中,相较于参数化方法,采用非参数化方法所得的棒内压概率分布具有普遍适用性及大样本下的良好精度,分析结果更为保守、安全。

  4. A Critical Look at the Mass-Metallicity-SFR Relation in the Local Universe: Non-parametric Analysis Framework and Confounding Systematics

    CERN Document Server

    Salim, Samir; Ly, Chun; Brinchmann, Jarle; Davé, Romeel; Dickinson, Mark; Salzer, John J; Charlot, Stéphane

    2014-01-01

    It has been proposed that the mass-metallicity relation of galaxies exhibits a secondary dependence on star formation rate (SFR), and that the resulting M-Z-SFR relation may be redshift-invariant, i.e., "fundamental." However, conflicting results on the character of the SFR dependence, and whether it exists, have been reported. To gain insight into the origins of the conflicting results, we (a) devise a non-parametric, astrophysically-motivated analysis framework based on the offset from the star-forming ("main") sequence at a given stellar mass (relative specific SFR), (b) apply this methodology and perform a comprehensive re-analysis of the local M-Z-SFR relation, based on SDSS, GALEX, and WISE data, and (c) study the impact of sample selection, and of using different metallicity and SFR indicators. We show that metallicity is anti-correlated with specific SFR regardless of the indicators used. We do not find that the relation is spurious due to correlations arising from biased metallicity measurements, or ...

  5. A note on the use of the non-parametric Wilcoxon-Mann-Whitney test in the analysis of medical studies

    Directory of Open Access Journals (Sweden)

    Kühnast, Corinna

    2008-04-01

    Full Text Available Background: Although non-normal data are widespread in biomedical research, parametric tests unnecessarily predominate in statistical analyses. Methods: We surveyed five biomedical journals and – for all studies which contain at least the unpaired t-test or the non-parametric Wilcoxon-Mann-Whitney test – investigated the relationship between the choice of a statistical test and other variables such as type of journal, sample size, randomization, sponsoring etc. Results: The non-parametric Wilcoxon-Mann-Whitney was used in 30% of the studies. In a multivariable logistic regression the type of journal, the test object, the scale of measurement and the statistical software were significant. The non-parametric test was more common in case of non-continuous data, in high-impact journals, in studies in humans, and when the statistical software is specified, in particular when SPSS was used.

  6. Mokken scale analysis of mental health and well-being questionnaire item responses: a non-parametric IRT method in empirical research for applied health researchers

    Directory of Open Access Journals (Sweden)

    Stochl Jan

    2012-06-01

    Full Text Available Abstract Background Mokken scaling techniques are a useful tool for researchers who wish to construct unidimensional tests or use questionnaires that comprise multiple binary or polytomous items. The stochastic cumulative scaling model offered by this approach is ideally suited when the intention is to score an underlying latent trait by simple addition of the item response values. In our experience, the Mokken model appears to be less well-known than for example the (related Rasch model, but is seeing increasing use in contemporary clinical research and public health. Mokken's method is a generalisation of Guttman scaling that can assist in the determination of the dimensionality of tests or scales, and enables consideration of reliability, without reliance on Cronbach's alpha. This paper provides a practical guide to the application and interpretation of this non-parametric item response theory method in empirical research with health and well-being questionnaires. Methods Scalability of data from 1 a cross-sectional health survey (the Scottish Health Education Population Survey and 2 a general population birth cohort study (the National Child Development Study illustrate the method and modeling steps for dichotomous and polytomous items respectively. The questionnaire data analyzed comprise responses to the 12 item General Health Questionnaire, under the binary recoding recommended for screening applications, and the ordinal/polytomous responses to the Warwick-Edinburgh Mental Well-being Scale. Results and conclusions After an initial analysis example in which we select items by phrasing (six positive versus six negatively worded items we show that all items from the 12-item General Health Questionnaire (GHQ-12 – when binary scored – were scalable according to the double monotonicity model, in two short scales comprising six items each (Bech’s “well-being” and “distress” clinical scales. An illustration of ordinal item analysis

  7. Mokken scale analysis of mental health and well-being questionnaire item responses: a non-parametric IRT method in empirical research for applied health researchers.

    Science.gov (United States)

    Stochl, Jan; Jones, Peter B; Croudace, Tim J

    2012-06-11

    Mokken scaling techniques are a useful tool for researchers who wish to construct unidimensional tests or use questionnaires that comprise multiple binary or polytomous items. The stochastic cumulative scaling model offered by this approach is ideally suited when the intention is to score an underlying latent trait by simple addition of the item response values. In our experience, the Mokken model appears to be less well-known than for example the (related) Rasch model, but is seeing increasing use in contemporary clinical research and public health. Mokken's method is a generalisation of Guttman scaling that can assist in the determination of the dimensionality of tests or scales, and enables consideration of reliability, without reliance on Cronbach's alpha. This paper provides a practical guide to the application and interpretation of this non-parametric item response theory method in empirical research with health and well-being questionnaires. Scalability of data from 1) a cross-sectional health survey (the Scottish Health Education Population Survey) and 2) a general population birth cohort study (the National Child Development Study) illustrate the method and modeling steps for dichotomous and polytomous items respectively. The questionnaire data analyzed comprise responses to the 12 item General Health Questionnaire, under the binary recoding recommended for screening applications, and the ordinal/polytomous responses to the Warwick-Edinburgh Mental Well-being Scale. After an initial analysis example in which we select items by phrasing (six positive versus six negatively worded items) we show that all items from the 12-item General Health Questionnaire (GHQ-12)--when binary scored--were scalable according to the double monotonicity model, in two short scales comprising six items each (Bech's "well-being" and "distress" clinical scales). An illustration of ordinal item analysis confirmed that all 14 positively worded items of the Warwick-Edinburgh Mental

  8. Non-parametric Bayesian inference for inhomogeneous Markov point processes

    DEFF Research Database (Denmark)

    Berthelsen, Kasper Klitgaard; Møller, Jesper

    With reference to a specific data set, we consider how to perform a flexible non-parametric Bayesian analysis of an inhomogeneous point pattern modelled by a Markov point process, with a location dependent first order term and pairwise interaction only. A priori we assume that the first order term...

  9. Parametric and Non-Parametric System Modelling

    DEFF Research Database (Denmark)

    Nielsen, Henrik Aalborg

    1999-01-01

    considered. It is shown that adaptive estimation in conditional parametric models can be performed by combining the well known methods of local polynomial regression and recursive least squares with exponential forgetting. The approach used for estimation in conditional parametric models also highlights how....... For this purpose non-parametric methods together with additive models are suggested. Also, a new approach specifically designed to detect non-linearities is introduced. Confidence intervals are constructed by use of bootstrapping. As a link between non-parametric and parametric methods a paper dealing with neural...... the focus is on combinations of parametric and non-parametric methods of regression. This combination can be in terms of additive models where e.g. one or more non-parametric term is added to a linear regression model. It can also be in terms of conditional parametric models where the coefficients...

  10. Quantitative Phylogenomics of Within-Species Mitogenome Variation: Monte Carlo and Non-Parametric Analysis of Phylogeographic Structure among Discrete Transatlantic Breeding Areas of Harp Seals (Pagophilus groenlandicus.

    Directory of Open Access Journals (Sweden)

    Steven M Carr

    -stepping-stone biogeographic models, but not a simple 1-step trans-Atlantic model. Plots of the cumulative pairwise sequence difference curves among seals in each of the four populations provide continuous proxies for phylogenetic diversification within each. Non-parametric Kolmogorov-Smirnov (K-S tests of maximum pairwise differences between these curves indicates that the Greenland Sea population has a markedly younger phylogenetic structure than either the White Sea population or the two Northwest Atlantic populations, which are of intermediate age and homogeneous structure. The Monte Carlo and K-S assessments provide sensitive quantitative tests of within-species mitogenomic phylogeography. This is the first study to indicate that the White Sea and Greenland Sea populations have different population genetic histories. The analysis supports the hypothesis that Harp Seals comprises three genetically distinguishable breeding populations, in the White Sea, Greenland Sea, and Northwest Atlantic. Implications for an ice-dependent species during ongoing climate change are discussed.

  11. Water quality analysis in rivers with non-parametric probability distributions and fuzzy inference systems: application to the Cauca River, Colombia.

    Science.gov (United States)

    Ocampo-Duque, William; Osorio, Carolina; Piamba, Christian; Schuhmacher, Marta; Domingo, José L

    2013-02-01

    The integration of water quality monitoring variables is essential in environmental decision making. Nowadays, advanced techniques to manage subjectivity, imprecision, uncertainty, vagueness, and variability are required in such complex evaluation process. We here propose a probabilistic fuzzy hybrid model to assess river water quality. Fuzzy logic reasoning has been used to compute a water quality integrative index. By applying a Monte Carlo technique, based on non-parametric probability distributions, the randomness of model inputs was estimated. Annual histograms of nine water quality variables were built with monitoring data systematically collected in the Colombian Cauca River, and probability density estimations using the kernel smoothing method were applied to fit data. Several years were assessed, and river sectors upstream and downstream the city of Santiago de Cali, a big city with basic wastewater treatment and high industrial activity, were analyzed. The probabilistic fuzzy water quality index was able to explain the reduction in water quality, as the river receives a larger number of agriculture, domestic, and industrial effluents. The results of the hybrid model were compared to traditional water quality indexes. The main advantage of the proposed method is that it considers flexible boundaries between the linguistic qualifiers used to define the water status, being the belongingness of water quality to the diverse output fuzzy sets or classes provided with percentiles and histograms, which allows classify better the real water condition. The results of this study show that fuzzy inference systems integrated to stochastic non-parametric techniques may be used as complementary tools in water quality indexing methodologies.

  12. Asset Market Linkages in Crisis Periods

    NARCIS (Netherlands)

    P. Hartmann; S. Straetmans; C.G. de Vries (Casper)

    2001-01-01

    textabstractWe characterize asset return linkages during periods of stress by an extremal dependence measure. Contrary to correlation analysis, this non-parametric measure is not predisposed towards the normal distribution and can account for non-linear relationships. Our estimates for the G-5 count

  13. Asset Market Linkages in Crisis Periods

    NARCIS (Netherlands)

    P. Hartmann; S. Straetmans; C.G. de Vries (Casper)

    2001-01-01

    textabstractWe characterize asset return linkages during periods of stress by an extremal dependence measure. Contrary to correlation analysis, this non-parametric measure is not predisposed towards the normal distribution and can account for non-linear relationships. Our estimates for the G-5

  14. Non-parametric versus parametric methods in environmental sciences

    Directory of Open Access Journals (Sweden)

    Muhammad Riaz

    2016-01-01

    Full Text Available This current report intends to highlight the importance of considering background assumptions required for the analysis of real datasets in different disciplines. We will provide comparative discussion of parametric methods (that depends on distributional assumptions (like normality relative to non-parametric methods (that are free from many distributional assumptions. We have chosen a real dataset from environmental sciences (one of the application areas. The findings may be extended to the other disciplines following the same spirit.

  15. Linkage analysis in alcohol dependence.

    Science.gov (United States)

    Windemuth, C; Hahn, A; Strauch, K; Baur, M P; Wienker, T F

    1999-01-01

    Alcohol dependence often is a familial disorder and has a genetic component. Research in causative factors of alcoholism is coordinated by a multi-center program, COGA [The Collaborative Study on the Genetics of Alcoholism, Begleiter et al., 1995]. We analyzed a subset of the COGA family sample, 84 pedigrees of Caucasian ancestry comprising 745 persons, 339 of whom are affected according to DSM-III-R and Feighner criteria. Using parametric and nonparametric methods, evidence for linkage was found on chromosome 1 (near markers D1S532, D1S1588, and D1S534), as well as on chromosome 15 (near marker D15S642). Other regions of the genome showed suggestive evidence for contributing loci. Related findings are discussed in recent publications investigating linkage in humans [Reich et al., 1998] and mice [Melo et al., 1996].

  16. Non-Parametric Estimation of Correlation Functions

    DEFF Research Database (Denmark)

    Brincker, Rune; Rytter, Anders; Krenk, Steen

    In this paper three methods of non-parametric correlation function estimation are reviewed and evaluated: the direct method, estimation by the Fast Fourier Transform and finally estimation by the Random Decrement technique. The basic ideas of the techniques are reviewed, sources of bias are pointed...... out, and methods to prevent bias are presented. The techniques are evaluated by comparing their speed and accuracy on the simple case of estimating auto-correlation functions for the response of a single degree-of-freedom system loaded with white noise....

  17. Non-parametric partitioning of SAR images

    Science.gov (United States)

    Delyon, G.; Galland, F.; Réfrégier, Ph.

    2006-09-01

    We describe and analyse a generalization of a parametric segmentation technique adapted to Gamma distributed SAR images to a simple non parametric noise model. The partition is obtained by minimizing the stochastic complexity of a quantized version on Q levels of the SAR image and lead to a criterion without parameters to be tuned by the user. We analyse the reliability of the proposed approach on synthetic images. The quality of the obtained partition will be studied for different possible strategies. In particular, one will discuss the reliability of the proposed optimization procedure. Finally, we will precisely study the performance of the proposed approach in comparison with the statistical parametric technique adapted to Gamma noise. These studies will be led by analyzing the number of misclassified pixels, the standard Hausdorff distance and the number of estimated regions.

  18. On Parametric (and Non-Parametric Variation

    Directory of Open Access Journals (Sweden)

    Neil Smith

    2009-11-01

    Full Text Available This article raises the issue of the correct characterization of ‘Parametric Variation’ in syntax and phonology. After specifying their theoretical commitments, the authors outline the relevant parts of the Principles–and–Parameters framework, and draw a three-way distinction among Universal Principles, Parameters, and Accidents. The core of the contribution then consists of an attempt to provide identity criteria for parametric, as opposed to non-parametric, variation. Parametric choices must be antecedently known, and it is suggested that they must also satisfy seven individually necessary and jointly sufficient criteria. These are that they be cognitively represented, systematic, dependent on the input, deterministic, discrete, mutually exclusive, and irreversible.

  19. A COMPARISON BETWEEN SINGLE LINKAGE AND COMPLETE LINKAGE IN AGGLOMERATIVE HIERARCHICAL CLUSTER ANALYSIS FOR IDENTIFYING TOURISTS SEGMENTS

    OpenAIRE

    Noor Rashidah Rashid

    2012-01-01

    Cluster Analysis is a multivariate method in statistics. Agglomerative Hierarchical Cluster Analysis is one of approaches in Cluster Analysis. There are two linkage methods in Agglomerative Hierarchical Cluster Analysis which are Single Linkage and Complete Linkage. The purpose of this study is to compare between Single Linkage and Complete Linkage in Agglomerative Hierarchical Cluster Analysis. The comparison of performances between these linkage methods was shown by using Kruskal-Wallis tes...

  20. International comparisons of the technical efficiency of the hospital sector: panel data analysis of OECD countries using parametric and non-parametric approaches.

    Science.gov (United States)

    Varabyova, Yauheniya; Schreyögg, Jonas

    2013-09-01

    There is a growing interest in the cross-country comparisons of the performance of national health care systems. The present work provides a comparison of the technical efficiency of the hospital sector using unbalanced panel data from OECD countries over the period 2000-2009. The estimation of the technical efficiency of the hospital sector is performed using nonparametric data envelopment analysis (DEA) and parametric stochastic frontier analysis (SFA). Internal and external validity of findings is assessed by estimating the Spearman rank correlations between the results obtained in different model specifications. The panel-data analyses using two-step DEA and one-stage SFA show that countries, which have higher health care expenditure per capita, tend to have a more technically efficient hospital sector. Whether the expenditure is financed through private or public sources is not related to the technical efficiency of the hospital sector. On the other hand, the hospital sector in countries with higher income inequality and longer average hospital length of stay is less technically efficient. Copyright © 2013 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  1. Are Public-Private Partnerships a Source of Greater Efficiency in Water Supply? Results of a Non-Parametric Performance Analysis Relating to the Italian Industry

    Directory of Open Access Journals (Sweden)

    Corrado lo Storto

    2013-12-01

    Full Text Available This article reports the outcome of a performance study of the water service provision industry in Italy. The study evaluates the efficiency of 21 “private or public-private” equity and 32 “public” equity water service operators and investigates controlling factors. In particular, the influence that the operator typology and service management nature - private vs. public - has on efficiency is assessed. The study employed a two-stage Data Envelopment Analysis methodology. In the first stage, the operational efficiency of water supply operators is calculated by implementing a conventional BCC DEA model, that uses both physical infrastructure and financial input and output variables to explore economies of scale. In the second stage, bootstrapped DEA and Tobit regression are performed to estimate the influence that a number of environmental factors have on water supplier efficiency. The results show that the integrated water provision industry in Italy is characterized by operational inefficiencies of service operators, and scale and agglomeration economies may have a not negligible effect on efficiency. In addition, the operator typology and its geographical location affect efficiency.

  2. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

    Science.gov (United States)

    Mitchell, Anna L; Bøe Wolff, Anette; MacArthur, Katie; Weaver, Jolanta U; Vaidya, Bijay; Erichsen, Martina M; Darlay, Rebecca; Husebye, Eystein S; Cordell, Heather J; Pearce, Simon H S

    2015-01-01

    Autoimmune Addison's disease (AAD) is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered. DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls) were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18), on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls). The data were analysed using a meta-analysis approach. In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7). A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene. This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  3. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

    Directory of Open Access Journals (Sweden)

    Anna L Mitchell

    Full Text Available Autoimmune Addison's disease (AAD is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered.DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18, on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls. The data were analysed using a meta-analysis approach.In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7. A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene.This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  4. Methods for genetic linkage analysis using trisomies

    Energy Technology Data Exchange (ETDEWEB)

    Feingold, E. [Emory Univ. School of Public Health, Atlanta, GA (United States); Lamb, N.E.; Sherman, S.L. [Emory Univ., Atlanta, GA (United States)

    1995-02-01

    Certain genetic disorders are rare in the general population, but more common in individuals with specific trisomies. Examples of this include leukemia and duodenal atresia in trisomy 21. This paper presents a linkage analysis method for using trisomic individuals to map genes for such traits. It is based on a very general gene-specific dosage model that posits that the trait is caused by specific effects of different alleles at one or a few loci and that duplicate copies of {open_quotes}susceptibility{close_quotes} alleles inherited from the nondisjoining parent give increased likelihood of having the trait. Our mapping method is similar to identity-by-descent-based mapping methods using affected relative pairs and also to methods for mapping recessive traits using inbred individuals by looking for markers with greater than expected homozygosity by descent. In the trisomy case, one would take trisomic individuals and look for markers with greater than expected homozygosity in the chromosomes inherited from the nondisjoining parent. We present statistical methods for performing such a linkage analysis, including a test for linkage to a marker, a method for estimating the distance from the marker to the trait gene, a confidence interval for that distance, and methods for computing power and sample sizes. We also resolve some practical issues involved in implementing the methods, including how to use partially informative markers and how to test candidate genes. 20 refs., 5 figs., 1 tab.

  5. Model-based methods for linkage analysis.

    Science.gov (United States)

    Rice, John P; Saccone, Nancy L; Corbett, Jonathan

    2008-01-01

    The logarithm of an odds ratio (LOD) score method originated in a seminal article by Newton Morton in 1955. The method is broadly concerned with issues of power and the posterior probability of linkage, ensuring that a reported linkage has a high probability of being a true linkage. In addition, the method is sequential so that pedigrees or LOD curves may be combined from published reports to pool data for analysis. This approach has been remarkably successful for 50 years in identifying disease genes for Mendelian disorders. After discussing these issues, we consider the situation for complex disorders where the maximum LOD score statistic shares some of the advantages of the traditional LOD score approach, but is limited by unknown power and the lack of sharing of the primary data needed to optimally combine analytic results. We may still learn from the LOD score method as we explore new methods in molecular biology and genetic analysis to utilize the complete human DNA sequence and the cataloging of all human genes.

  6. Non-Parametric Bayesian Updating within the Assessment of Reliability for Offshore Wind Turbine Support Structures

    DEFF Research Database (Denmark)

    Ramirez, José Rangel; Sørensen, John Dalsgaard

    2011-01-01

    This work illustrates the updating and incorporation of information in the assessment of fatigue reliability for offshore wind turbine. The new information, coming from external and condition monitoring can be used to direct updating of the stochastic variables through a non-parametric Bayesian...... updating approach and be integrated in the reliability analysis by a third-order polynomial chaos expansion approximation. Although Classical Bayesian updating approaches are often used because of its parametric formulation, non-parametric approaches are better alternatives for multi-parametric updating...... with a non-conjugating formulation. The results in this paper show the influence on the time dependent updated reliability when non-parametric and classical Bayesian approaches are used. Further, the influence on the reliability of the number of updated parameters is illustrated....

  7. Inflammatory bowel disease gene hunting by linkage analysis: rationale, methodology, and present status of the field.

    Science.gov (United States)

    Brant, Steven R; Shugart, Yin Yao

    2004-05-01

    Observed inflammatory bowel disease (IBD) familial clustering and increased monozygotic twin concordance has led to the hypothesis that genetic loci containing IBD susceptibility genes can be identified by whole genome linkage mapping approaches. Methodology including collecting carefully phenotyped multiplex pedigrees, genotyping using highly informative microsatellite markers and linkage analysis by non-parametric allele sharing methods has been established. Eleven published genome wide screens (GWS) have studied more than 1,200 multiplex IBD pedigrees. Two-thirds of affected relative pairs were Crohn's disease (CD), 20% ulcerative colitis (UC) and the remaining were mixed. Seven loci (IBDI-7) on chromosomes 16q, 12, 6p, 14q, 5q, 19, and 1p have been identified with genome wide significant and independently replicated linkage. Risk alleles/haplotypes have been defined for the IBD1 (CARD15/NOD2), IBD3 (HLA) and IBD5 (5q cytokine cluster) loci. There has been evidence for a second chromosome 16 locus (IBD8) independent of NOD2 that overlaps IBD1 on the pericentromeric p-arm. Several other regions show great promise for containing additional IBD loci, particularly chromosome 3p with genome wide evidence in one study at 3p26 and more centromeric evidence in several other studies, and chromosomes 2q, 3q, 4q, 7, 11p, and Xp each with suggestive evidence of linkage in one and additional evidence in two or more studies. Single GWSs and fine mapping studies containing very large sets of pedigrees and in particular, more UC pedigrees, and the use of creative analytic and disease stratification schemes are required to identify, establish and refine weaker IBD loci.

  8. Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes.

    Science.gov (United States)

    Silverman, Edwin K; Mosley, Jonathan D; Palmer, Lyle J; Barth, Matthew; Senter, Jody M; Brown, Alison; Drazen, Jeffrey M; Kwiatkowski, David J; Chapman, Harold A; Campbell, Edward J; Province, Michael A; Rao, D C; Reilly, John J; Ginns, Leo C; Speizer, Frank E; Weiss, Scott T

    2002-03-15

    Familial aggregation of chronic obstructive pulmonary disease (COPD) has been demonstrated, but linkage analysis of COPD-related phenotypes has not been reported previously. An autosomal 10 cM genome-wide scan of short tandem repeat (STR) polymorphic markers was analyzed for linkage to COPD-related phenotypes in 585 members of 72 pedigrees ascertained through severe, early-onset COPD probands without severe alpha1-antitrypsin deficiency. Multipoint non-parametric linkage analysis (using the ALLEGRO program) was performed for qualitative phenotypes including moderate airflow obstruction [forced expiratory volume at one second (FEV(1)) < 60% predicted, FEV(1)/FVC < 90% predicted], mild airflow obstruction (FEV(1) < 80% predicted, FEV(1)/FVC < 90% predicted) and chronic bronchitis. The strongest evidence for linkage in all subjects was observed at chromosomes 12 (LOD = 1.70) and 19 (LOD = 1.54) for moderate airflow obstruction, chromosomes 8 (LOD = 1.36) and 19 (LOD = 1.09) for mild airflow obstruction and chromosomes 19 (LOD = 1.21) and 22 (LOD = 1.37) for chronic bronchitis. Restricting analysis to cigarette smokers only provided increased evidence for linkage of mild airflow obstruction and chronic bronchitis to several genomic regions; for mild airflow obstruction in smokers only, the maximum LOD was 1.64 at chromosome 19, whereas for chronic bronchitis in smokers only, the maximum LOD was 2.08 at chromosome 22. On chromosome 12p, 12 additional STR markers were genotyped, which provided additional support for an airflow obstruction locus in that region with a non-parametric multipoint approach for moderate airflow obstruction (LOD = 2.13) and mild airflow obstruction (LOD = 1.43). Using a dominant model with the STR markers on 12p, two point parametric linkage analysis of all subjects demonstrated a maximum LOD score of 2.09 for moderate airflow obstruction and 2.61 for mild airflow obstruction. In smokers only, the maximum two point LOD score for mild airflow

  9. Performances and Spending Efficiency in Higher Education: A European Comparison through Non-Parametric Approaches

    Science.gov (United States)

    Agasisti, Tommaso

    2011-01-01

    The objective of this paper is an efficiency analysis concerning higher education systems in European countries. Data have been extracted from OECD data-sets (Education at a Glance, several years), using a non-parametric technique--data envelopment analysis--to calculate efficiency scores. This paper represents the first attempt to conduct such an…

  10. Non Parametric Statistical Analysis Research on College Students' Math Anxiety Generation Factors%大学生数学焦虑产生因素的非参数统计分析

    Institute of Scientific and Technical Information of China (English)

    范大付; 李春红

    2012-01-01

    The non-parametric statistics is a test method which does not involve the general parameter and does not depend on the distribution. By using the non-parametric statistics for analyzing and researching the factors of college students' math anxiety, we try to solve the negative effect for studying from math anxiety, and increase the academic achievement of the college students.%采用非参数统计方法中的Wilconxon秩和检验、Friedman检验、Mann-WhitneyU检验对大学生数学焦虑的5个主要影响因素进行了定量分析与评价,获得了数学焦虑产生因素的相关非参数统计结果,为解决数学焦虑所带来的学习负效应提供参考。

  11. A non-parametric peak finder algorithm and its application in searches for new physics

    CERN Document Server

    Chekanov, S

    2011-01-01

    We have developed an algorithm for non-parametric fitting and extraction of statistically significant peaks in the presence of statistical and systematic uncertainties. Applications of this algorithm for analysis of high-energy collision data are discussed. In particular, we illustrate how to use this algorithm in general searches for new physics in invariant-mass spectra using pp Monte Carlo simulations.

  12. Non-parametric tests of productive efficiency with errors-in-variables

    NARCIS (Netherlands)

    Kuosmanen, T.K.; Post, T.; Scholtes, S.

    2007-01-01

    We develop a non-parametric test of productive efficiency that accounts for errors-in-variables, following the approach of Varian. [1985. Nonparametric analysis of optimizing behavior with measurement error. Journal of Econometrics 30(1/2), 445-458]. The test is based on the general Pareto-Koopmans

  13. A non-parametric approach to investigating fish population dynamics

    National Research Council Canada - National Science Library

    Cook, R.M; Fryer, R.J

    2001-01-01

    .... Using a non-parametric model for the stock-recruitment relationship it is possible to avoid defining specific functions relating recruitment to stock size while also providing a natural framework to model process error...

  14. Non-parametric approach to the study of phenotypic stability.

    Science.gov (United States)

    Ferreira, D F; Fernandes, S B; Bruzi, A T; Ramalho, M A P

    2016-02-19

    The aim of this study was to undertake the theoretical derivations of non-parametric methods, which use linear regressions based on rank order, for stability analyses. These methods were extension different parametric methods used for stability analyses and the result was compared with a standard non-parametric method. Intensive computational methods (e.g., bootstrap and permutation) were applied, and data from the plant-breeding program of the Biology Department of UFLA (Minas Gerais, Brazil) were used to illustrate and compare the tests. The non-parametric stability methods were effective for the evaluation of phenotypic stability. In the presence of variance heterogeneity, the non-parametric methods exhibited greater power of discrimination when determining the phenotypic stability of genotypes.

  15. Methods for genetic linkage analysis using trisomies

    Energy Technology Data Exchange (ETDEWEB)

    Feingold, E.; Lamb, N.E.; Sherman, S.L. [Emory Univ., Atlanta, GA (United States)

    1994-09-01

    Certain genetic disorders (e.g. congenital cataracts, duodenal atresia) are rare in the general population, but more common in people with Down`s syndrome. We present a method for using individuals with trisomy 21 to map genes for such traits. Our methods are analogous to methods for mapping autosomal dominant traits using affected relative pairs by looking for markers with greater than expected identity-by-descent. In the trisomy case, one would take trisomic individuals and look for markers with greater than expected reduction to homozygosity in the chromosomes inherited form the non-disjoining parent. We present statistical methods for performing such a linkage analysis, including a test for linkage to a marker, a method for estimating the distance from the marker to the gene, a confidence interval for that distance, and methods for computing power and sample sizes. The methods are described in the context of gene-dosage model for the etiology of the disorder, but can be extended to other models. We also resolve some practical issues involved in implementing the methods, including how to use partially informative markers, how to test candidate genes, and how to handle the effect of reduced recombination associated with maternal meiosis I non-disjunction.

  16. Model-free linkage analysis of a binary trait.

    Science.gov (United States)

    Xu, Wei; Bull, Shelley B; Mirea, Lucia; Greenwood, Celia M T

    2012-01-01

    Genetic linkage analysis aims to detect chromosomal regions containing genes that influence risk of specific inherited diseases. The presence of linkage is indicated when a disease or trait cosegregates through the families with genetic markers at a particular region of the genome. Two main types of genetic linkage analysis are in common use, namely model-based linkage analysis and model-free linkage analysis. In this chapter, we focus solely on the latter type and specifically on binary traits or phenotypes, such as the presence or absence of a specific disease. Model-free linkage analysis is based on allele-sharing, where patterns of genetic similarity among affected relatives are compared to chance expectations. Because the model-free methods do not require the specification of the inheritance parameters of a genetic model, they are preferred by many researchers at early stages in the study of a complex disease. We introduce the history of model-free linkage analysis in Subheading 1. Table 1 describes a standard model-free linkage analysis workflow. We describe three popular model-free linkage analysis methods, the nonparametric linkage (NPL) statistic, the affected sib-pair (ASP) likelihood ratio test, and a likelihood approach for pedigrees. The theory behind each linkage test is described in this section, together with a simple example of the relevant calculations. Table 4 provides a summary of popular genetic analysis software packages that implement model-free linkage models. In Subheading 2, we work through the methods on a rich example providing sample software code and output. Subheading 3 contains notes with additional details on various topics that may need further consideration during analysis.

  17. Autosomal dominant familial spastic paraplegia; Linkage analysis and evidence for linkage to chromosome 2p

    Energy Technology Data Exchange (ETDEWEB)

    Figlewicz, D.A. [Univ. of Rochester, NY (United States); Dube, M.P.; Rouleau, G.A. [McGill Univ., Montreal (Canada)] [and others

    1994-09-01

    Familial spastic paraplegia (FSP) is a degenerative disorder of the motor system characterized by progressive weakness and spasticity of the lower limbs. Little is known about the pathophysiology of this disorder. FSP can be inherited as an autosomal dominant (AD), autosomal recessive, or X-linked trait. We have undertaken linkage analysis for a group of 36 AD FSP families from which we have collected blood samples from 427 individuals, including 148 affected individuals. Typing of polymorphic markers has allowed us to exclude more than 50% of the genome. Recently, linkage for AD FSP to a locus on chromosome 14q was reported. Our AD FSP kindreds were tested for linkage to markers spanning the 20 cM region between D14S69 and D14S66; however, we were not able to establish linkage for any of our families to chromosome 14. Lod scores suggestive of linkage for some AD FSP kindreds have been obtained for markers on chromosome 2p. We have tested seven polymorphic markers spanning the region between D2S405 and D2S177. Our highest aggregate lod score, including all families tested, was obtained at the locus D2S352: 2.4 at 20 cM. Results from HOMOG analysis for linkage heterogeneity will be reported.

  18. Genome-wide linkage analysis of inguinal hernia in pigs using affected sib pairs

    Directory of Open Access Journals (Sweden)

    Taubert Helge

    2006-05-01

    Full Text Available Abstract Background Inguinal and scrotal hernias are of great concern to pig producers, and lead to poor animal welfare and severe economic loss. Selection against these conditions is highly preferable, but at this time no gene, Quantitative Trait Loci (QTL, or mode of inheritance has been identified in pigs or in any other species. Therefore, a complete genome scan was performed in order to identify genomic regions affecting inguinal and scrotal hernias in pigs. Records from seedstock breeding farms were collected. No clinical examinations were executed on the pigs and there was therefore no distinction between inguinal and scrotal hernias. The genome scan utilised affected sib pairs (ASP, and the data was analysed using both an ASP test based on Non-parametric Linkage (NPL analysis, and a Transmission Disequilibrium Test (TDT. Results Significant QTLs (p Conclusion For the first time in any species, a genome scan has revealed suggestive QTLs for inguinal and scrotal hernias. While this study permitted the detection of chromosomal regions only, it is interesting to note that several promising candidate genes, including INSL3, MIS, and CGRP, are located within the highly significant QTL regions. Further studies are required in order to narrow down the suggestive QTL regions, investigate the candidate genes, and to confirm the suggestive QTLs in other populations. The haplotype associated with inguinal and scrotal hernias may help in achieving selection against the disorder.

  19. 随机右删失非参数回归模型的影响分析%Influence Analysis of Non-parametric Regression Model with Random Right Censorship

    Institute of Scientific and Technical Information of China (English)

    王淑玲; 冯予; 刘刚

    2012-01-01

    In this paper, the primary model is transformed to non-parametric regression model; Then, local influence is discussed and concise influence matrix is obtained; At last, example is given to illustrate our results.%将随机删失非参数固定设计回归模型转化为非参数回归模型进行研究;然后对此模型作了局部影响分析,得到计算影响矩阵及最大影响曲率方向的简洁公式;最后通过实例分析,验证了分析方法的有效性.

  20. Identifying marker typing incompatibilities in linkage analysis

    Energy Technology Data Exchange (ETDEWEB)

    Stringham, H.M.; Boehnke, M. [Univ. of Michigan, Ann Arbor, MI (United States)

    1996-10-01

    A common problem encountered in linkage analyses is that execution of the computer program is halted because of genotypes in the data that are inconsistent with Mendelian inheritance. Such inconsistencies may arise because of pedigree errors or errors in typing. In some cases, the source of the inconsistencies is easily identified by examining the pedigree. In others, the error is not obvious, and substantial time and effort are required to identify the responsible genotypes. We have developed two methods for automatically identifying those individuals whose genotypes are most likely the cause of the inconsistencies. First, we calculate the posterior probability of genotyping error for each member of the pedigree, given the marker data on all pedigree members and allowing anyone in the pedigree to have an error. Second, we identify those individuals whose genotypes could be solely responsible for the inconsistency in the pedigree. We illustrate these methods with two examples: one a pedigree error, the second a genotyping error. These methods have been implemented as a module of the pedigree analysis program package MENDEL. 9 refs., 2 figs., 2 tabs.

  1. A Comparison of Parametric and Non-Parametric Methods Applied to a Likert Scale.

    Science.gov (United States)

    Mircioiu, Constantin; Atkinson, Jeffrey

    2017-05-10

    A trenchant and passionate dispute over the use of parametric versus non-parametric methods for the analysis of Likert scale ordinal data has raged for the past eight decades. The answer is not a simple "yes" or "no" but is related to hypotheses, objectives, risks, and paradigms. In this paper, we took a pragmatic approach. We applied both types of methods to the analysis of actual Likert data on responses from different professional subgroups of European pharmacists regarding competencies for practice. Results obtained show that with "large" (>15) numbers of responses and similar (but clearly not normal) distributions from different subgroups, parametric and non-parametric analyses give in almost all cases the same significant or non-significant results for inter-subgroup comparisons. Parametric methods were more discriminant in the cases of non-similar conclusions. Considering that the largest differences in opinions occurred in the upper part of the 4-point Likert scale (ranks 3 "very important" and 4 "essential"), a "score analysis" based on this part of the data was undertaken. This transformation of the ordinal Likert data into binary scores produced a graphical representation that was visually easier to understand as differences were accentuated. In conclusion, in this case of Likert ordinal data with high response rates, restraining the analysis to non-parametric methods leads to a loss of information. The addition of parametric methods, graphical analysis, analysis of subsets, and transformation of data leads to more in-depth analyses.

  2. A non-parametric model for the cosmic velocity field

    NARCIS (Netherlands)

    Branchini, E; Teodoro, L; Frenk, CS; Schmoldt, [No Value; Efstathiou, G; White, SDM; Saunders, W; Sutherland, W; Rowan-Robinson, M; Keeble, O; Tadros, H; Maddox, S; Oliver, S

    1999-01-01

    We present a self-consistent non-parametric model of the local cosmic velocity field derived from the distribution of IRAS galaxies in the PSCz redshift survey. The survey has been analysed using two independent methods, both based on the assumptions of gravitational instability and linear biasing.

  3. Non-Parametric Model Drift Detection

    Science.gov (United States)

    2016-07-01

    Analysis Division Information Directorate This report is published in the interest of scientific and technical...took place on datasets made up of text documents. The difference between datasets used to estimate potential error (drop in accuracy) that the model...Assistant, Extraction of executable rules from regulatory text 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF ABSTRACT UU 18. NUMBER OF PAGES 19a

  4. A Non Parametric Study of the Volatility of the Economy as a Country Risk Predictor

    CERN Document Server

    Costanzo, Sabatino; Dominguez, Ramses; Moreno, William

    2007-01-01

    This paper intends to explain Venezuela's country spread behavior through the Neural Networks analysis of a monthly economic activity general index of economic indicators constructed by the Central Bank of Venezuela, a measure of the shocks affecting country risk of emerging markets and the U.S. short term interest rate. The use of non parametric methods allowed the finding of non linear relationship between these inputs and the country risk. The networks performance was evaluated using the method of excess predictability.

  5. ANALYSIS OF INTER SECTORAL LINKAGES IN SEMARANG REGENCY

    Directory of Open Access Journals (Sweden)

    Fafurida

    2014-03-01

    Full Text Available This research aims to analyze inter economic sectoral linkages and to arrange the Klassen typology of economic sectors in Semarang Regency. The Klassen typology is composed from the result of the linkage analysis. To construct the analysis, this paper also utulizes the input-output analysis. It finds that service sector has the highest backward linkage while farming sector has the highest forward linkage. Based on the Klassen typology analysis, sectors with the highest backward and forward linkages and potential to be the leading sector are farming sector, dan trade, hotel and restaurant sector.Keywords: Backward linkage,forward linkage, Klassen typologyJEL classification number: R15, O21AbstrakPenelitian ini bertujuan untuk mengkaji seberapa besar keterkaitan antar sektor ekonomi di Kabupaten Semarang dan memetakan tipologi Klassennya. Tipologi Klasen disusun berdasarkan hasil perhitungan analisis keterkaitannya. Untuk menyusun analisis tersebut, paper ini juga menggunakan analisis input-output. Hasil penelitian menunjukkan bahwa sektor jasa memiliki keterkaitan ke belakang tertinggi dibandingkan dengan sektor lainnya. Sementara itu, sektor pertanian merupakan sektor yang memiliki keterkaitan ke depan tertinggi. Berdasarkan hasil analisis tipologi Klassen, sektor yang memiliki keterkaitan ke depan dan ke belakang yang tinggi dan dapat menjadi sektor unggulan adalah sektor perdagangan, hotel dan sektor restoran.Kata kunci: Keterkaitan ke belakang, keterkaitan ke depan, tipologi KlassenJEL classification numbers: R15, O21

  6. Bayesian non parametric modelling of Higgs pair production

    Science.gov (United States)

    Scarpa, Bruno; Dorigo, Tommaso

    2017-03-01

    Statistical classification models are commonly used to separate a signal from a background. In this talk we face the problem of isolating the signal of Higgs pair production using the decay channel in which each boson decays into a pair of b-quarks. Typically in this context non parametric methods are used, such as Random Forests or different types of boosting tools. We remain in the same non-parametric framework, but we propose to face the problem following a Bayesian approach. A Dirichlet process is used as prior for the random effects in a logit model which is fitted by leveraging the Polya-Gamma data augmentation. Refinements of the model include the insertion in the simple model of P-splines to relate explanatory variables with the response and the use of Bayesian trees (BART) to describe the atoms in the Dirichlet process.

  7. Bayesian non parametric modelling of Higgs pair production

    Directory of Open Access Journals (Sweden)

    Scarpa Bruno

    2017-01-01

    Full Text Available Statistical classification models are commonly used to separate a signal from a background. In this talk we face the problem of isolating the signal of Higgs pair production using the decay channel in which each boson decays into a pair of b-quarks. Typically in this context non parametric methods are used, such as Random Forests or different types of boosting tools. We remain in the same non-parametric framework, but we propose to face the problem following a Bayesian approach. A Dirichlet process is used as prior for the random effects in a logit model which is fitted by leveraging the Polya-Gamma data augmentation. Refinements of the model include the insertion in the simple model of P-splines to relate explanatory variables with the response and the use of Bayesian trees (BART to describe the atoms in the Dirichlet process.

  8. A Non-parametric Approach to Measuring the $k^{-}\\pi^{+}$ Amplitudes in $D^{+} \\to K^{-}K^{+}\\pi{+}$ Decay

    CERN Document Server

    Link, J M; Alimonti, G; Anjos, J C; Arena, V; Barberis, S; Bediaga, I; Benussi, L; Bianco, S; Boca, G; Bonomi, G; Boschini, M; Butler, J N; Carrillo, S; Casimiro, E; Castromonte, C; Cawlfield, C; Cerutti, A; Cheung, H W K; Chiodini, G; Cho, K; Chung, Y S; Cinquini, L; Cuautle, E; Cumalat, J P; D'Angelo, P; Davenport, T F; De Miranda, J M; Di Corato, M; Dini, P; Dos Reis, A C; Edera, L; Engh, D; Erba, S; Fabbri, F L; Frisullo, V; Gaines, I; Garbincius, P H; Gardner, R; Garren, L A; Gianini, G; Gottschalk, E; Göbel, C; Handler, T; Hernández, H; Hosack, M; Inzani, P; Johns, W E; Kang, J S; Kasper, P H; Kim, D Y; Ko, B R; Kreymer, A E; Kryemadhi, A; Kutschke, R; Kwak, J W; Lee, K B; Leveraro, F; Liguori, G; Lopes-Pegna, D; Luiggi, E; López, A M; Machado, A A; Magnin, J; Malvezzi, S; Massafferri, A; Menasce, D; Merlo, M M; Mezzadri, M; Mitchell, R; Moroni, L; Méndez, H; Nehring, M; O'Reilly, B; Otalora, J; Pantea, D; Paris, A; Park, H; Pedrini, D; Pepe, I M; Polycarpo, E; Pontoglio, C; Prelz, F; Quinones, J; Rahimi, A; Ramírez, J E; Ratti, S P; Reyes, M; Riccardi, C; Rovere, M; Sala, S; Segoni, I; Sheaff, M; Sheldon, P D; Stenson, K; Sánchez-Hernández, A; Uribe, C; Vaandering, E W; Vitulo, P; Vázquez, F; Wang, M; Webster, M; Wilson, J R; Wiss, J; Yager, P M; Zallo, A; Zhang, Y

    2007-01-01

    Using a large sample of \\dpkkpi{} decays collected by the FOCUS photoproduction experiment at Fermilab, we present the first non-parametric analysis of the \\kpi{} amplitudes in \\dpkkpi{} decay. The technique is similar to the technique used for our non-parametric measurements of the \\krzmndk{} form factors. Although these results are in rough agreement with those of E687, we observe a wider S-wave contribution for the \\ksw{} contribution than the standard, PDG \\cite{pdg} Breit-Wigner parameterization. We have some weaker evidence for the existence of a new, D-wave component at low values of the $K^- \\pi^+$ mass.

  9. Non-parametric Morphologies of Mergers in the Illustris Simulation

    CERN Document Server

    Bignone, Lucas A; Sillero, Emanuel; Pedrosa, Susana E; Pellizza, Leonardo J; Lambas, Diego G

    2016-01-01

    We study non-parametric morphologies of mergers events in a cosmological context, using the Illustris project. We produce mock g-band images comparable to observational surveys from the publicly available Illustris simulation idealized mock images at $z=0$. We then measure non parametric indicators: asymmetry, Gini, $M_{20}$, clumpiness and concentration for a set of galaxies with $M_* >10^{10}$ M$_\\odot$. We correlate these automatic statistics with the recent merger history of galaxies and with the presence of close companions. Our main contribution is to assess in a cosmological framework, the empirically derived non-parametric demarcation line and average time-scales used to determine the merger rate observationally. We found that 98 per cent of galaxies above the demarcation line have a close companion or have experienced a recent merger event. On average, merger signatures obtained from the $G-M_{20}$ criteria anticorrelate clearly with the elapsing time to the last merger event. We also find that the a...

  10. Kinematic and Dynamic Characteristics Analysis of Bennett’ s Linkage

    Institute of Scientific and Technical Information of China (English)

    Jianfeng Li

    2015-01-01

    Bennett’ s linkage is a spatial fourlink linkage, and has an extensive application prospect in the deployable linkages.Its kinematic and dynamic characteristics analysis has a great significance in its synthesis and application. According to the geometrical conditions of Bennett ’ s linkage, the motion equations are established,and the expressions of angular displacement, angular velocity and angular acceleration of the followers and the displacement, velocity and acceleration of mass center of link are shown. Based on Lagrange’ s equation, the multi⁃rigid⁃body dynamic model of Bennett’ s linkage is established. In order to solve the reaction forces and moments of joint, screw theory and reciprocal screw method are combined to establish the computing method.The number of equations and unknown reaction forces and moments of joint are equal through adding link deformation equations. The influence of the included angle of adjacent axes on Bennett ’ s linkage ’ s kinematic characteristics, the dynamic characteristics and the reaction forces and moments of joint are analyzed. Results show that the included angle of adjacent axes has a great effect on velocity, acceleration, the reaction forces and moments of Bennett’ s linkage. The change of reaction forces and moments of joint are apparent near the singularity configuration.

  11. Temporal Expression of Peripheral Blood Leukocyte Biomarkers in a Macaca fascicularis Infection Model of Tuberculosis; Comparison with Human Datasets and Analysis with Parametric/Non-parametric Tools for Improved Diagnostic Biomarker Identification.

    Directory of Open Access Journals (Sweden)

    Sajid Javed

    Full Text Available A temporal study of gene expression in peripheral blood leukocytes (PBLs from a Mycobacterium tuberculosis primary, pulmonary challenge model Macaca fascicularis has been conducted. PBL samples were taken prior to challenge and at one, two, four and six weeks post-challenge and labelled, purified RNAs hybridised to Operon Human Genome AROS V4.0 slides. Data analyses revealed a large number of differentially regulated gene entities, which exhibited temporal profiles of expression across the time course study. Further data refinements identified groups of key markers showing group-specific expression patterns, with a substantial reprogramming event evident at the four to six week interval. Selected statistically-significant gene entities from this study and other immune and apoptotic markers were validated using qPCR, which confirmed many of the results obtained using microarray hybridisation. These showed evidence of a step-change in gene expression from an 'early' FOS-associated response, to a 'late' predominantly type I interferon-driven response, with coincident reduction of expression of other markers. Loss of T-cell-associate marker expression was observed in responsive animals, with concordant elevation of markers which may be associated with a myeloid suppressor cell phenotype e.g. CD163. The animals in the study were of different lineages and these Chinese and Mauritian cynomolgous macaque lines showed clear evidence of differing susceptibilities to Tuberculosis challenge. We determined a number of key differences in response profiles between the groups, particularly in expression of T-cell and apoptotic makers, amongst others. These have provided interesting insights into innate susceptibility related to different host `phenotypes. Using a combination of parametric and non-parametric artificial neural network analyses we have identified key genes and regulatory pathways which may be important in early and adaptive responses to TB. Using

  12. Using Mathematica to build Non-parametric Statistical Tables

    Directory of Open Access Journals (Sweden)

    Gloria Perez Sainz de Rozas

    2003-01-01

    Full Text Available In this paper, I present computational procedures to obtian statistical tables. The tables of the asymptotic distribution and the exact distribution of Kolmogorov-Smirnov statistic Dn for one population, the table of the distribution of the runs R, the table of the distribution of Wilcoxon signed-rank statistic W+ and the table of the distribution of Mann-Whitney statistic Ux using Mathematica, Version 3.9 under Window98. I think that it is an interesting cuestion because many statistical packages give the asymptotic significance level in the statistical tests and with these porcedures one can easily calculate the exact significance levels and the left-tail and right-tail probabilities with non-parametric distributions. I have used mathematica to make these calculations because one can use symbolic language to solve recursion relations. It's very easy to generate the format of the tables, and it's possible to obtain any table of the mentioned non-parametric distributions with any precision, not only with the standard parameters more used in Statistics, and without transcription mistakes. Furthermore, using similar procedures, we can generate tables for the following distribution functions: Binomial, Poisson, Hypergeometric, Normal, x2 Chi-Square, T-Student, F-Snedecor, Geometric, Gamma and Beta.

  13. A non-parametric framework for estimating threshold limit values

    Directory of Open Access Journals (Sweden)

    Ulm Kurt

    2005-11-01

    Full Text Available Abstract Background To estimate a threshold limit value for a compound known to have harmful health effects, an 'elbow' threshold model is usually applied. We are interested on non-parametric flexible alternatives. Methods We describe how a step function model fitted by isotonic regression can be used to estimate threshold limit values. This method returns a set of candidate locations, and we discuss two algorithms to select the threshold among them: the reduced isotonic regression and an algorithm considering the closed family of hypotheses. We assess the performance of these two alternative approaches under different scenarios in a simulation study. We illustrate the framework by analysing the data from a study conducted by the German Research Foundation aiming to set a threshold limit value in the exposure to total dust at workplace, as a causal agent for developing chronic bronchitis. Results In the paper we demonstrate the use and the properties of the proposed methodology along with the results from an application. The method appears to detect the threshold with satisfactory success. However, its performance can be compromised by the low power to reject the constant risk assumption when the true dose-response relationship is weak. Conclusion The estimation of thresholds based on isotonic framework is conceptually simple and sufficiently powerful. Given that in threshold value estimation context there is not a gold standard method, the proposed model provides a useful non-parametric alternative to the standard approaches and can corroborate or challenge their findings.

  14. Typology of Empirical Attributes: Dissimilarity Linkage Analysis (DLA).

    Science.gov (United States)

    Dubin, Robert; Champoux, Joseph E.

    Dissimilarity Linkage Analysis (DLA) is an extremely simple procedure for developing a typology from empirical attributes that permits the clustering of entities. First the procedure develops a taxonomy of types from empirical attributes possessed by entities in the sample. Second, the procedure assigns entities to one, and only one, type in the…

  15. Bayesian linkage analysis of categorical traits for arbitrary pedigree designs.

    Directory of Open Access Journals (Sweden)

    Abra Brisbin

    Full Text Available BACKGROUND: Pedigree studies of complex heritable diseases often feature nominal or ordinal phenotypic measurements and missing genetic marker or phenotype data. METHODOLOGY: We have developed a Bayesian method for Linkage analysis of Ordinal and Categorical traits (LOCate that can analyze complex genealogical structure for family groups and incorporate missing data. LOCate uses a Gibbs sampling approach to assess linkage, incorporating a simulated tempering algorithm for fast mixing. While our treatment is Bayesian, we develop a LOD (log of odds score estimator for assessing linkage from Gibbs sampling that is highly accurate for simulated data. LOCate is applicable to linkage analysis for ordinal or nominal traits, a versatility which we demonstrate by analyzing simulated data with a nominal trait, on which LOCate outperforms LOT, an existing method which is designed for ordinal traits. We additionally demonstrate our method's versatility by analyzing a candidate locus (D2S1788 for panic disorder in humans, in a dataset with a large amount of missing data, which LOT was unable to handle. CONCLUSION: LOCate's accuracy and applicability to both ordinal and nominal traits will prove useful to researchers interested in mapping loci for categorical traits.

  16. Broad scan linkage analysis in a large Tourette family pedigree

    Energy Technology Data Exchange (ETDEWEB)

    Peiffer, A.; Leppert, M. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States); Wetering, B.J.M. van der [Univ. Hospital Rotterdam (Netherlands)

    1994-09-01

    Attempts to find a gene causing Tourette syndrome (TS) using linkage analysis have been unsuccessful even though as much as 65% of the autosomal genetic map has been excluded by the pooled results from several laboratories collaborating worldwide. One reason for this failure may be the misclassification of affection status of marry-in spouses. Specifically, we have found that six unrelated spouses in our Utah TS pedigree suffer from TS, obsessive-compulsive disorder or chronic motor tics. In light of these findings we decided to conduct a complete genomic scan from this Utah kindred with polymorphic markers in three related sibships in which there was no assortative mating. A linkage study assuming autosomal dominant inheritance was done using tetranucleotide repeat markers developed at the University of Utah. We selected markers that were less than 300 bp in size and that gave a heterozygosity of over 70% upon analysis in 4 CEPH families. Results to date with 95 markers run at an interval of 30 cM (covering 61% of the genome) show no evidence of linkage. We intend to extend the coverage to 100% of the genome. Pending completion of this scan, failure to provide evidence of linkage in our TS pedigree might then be attributed to phenotypic misclassification or erroneous assumptions regarding the genetic model of transmission.

  17. Non-parametric estimation of Fisher information from real data

    CERN Document Server

    Shemesh, Omri Har; Miñano, Borja; Hoekstra, Alfons G; Sloot, Peter M A

    2015-01-01

    The Fisher Information matrix is a widely used measure for applications ranging from statistical inference, information geometry, experiment design, to the study of criticality in biological systems. Yet there is no commonly accepted non-parametric algorithm to estimate it from real data. In this rapid communication we show how to accurately estimate the Fisher information in a nonparametric way. We also develop a numerical procedure to minimize the errors by choosing the interval of the finite difference scheme necessary to compute the derivatives in the definition of the Fisher information. Our method uses the recently published "Density Estimation using Field Theory" algorithm to compute the probability density functions for continuous densities. We use the Fisher information of the normal distribution to validate our method and as an example we compute the temperature component of the Fisher Information Matrix in the two dimensional Ising model and show that it obeys the expected relation to the heat capa...

  18. A Non-Parametric Spatial Independence Test Using Symbolic Entropy

    Directory of Open Access Journals (Sweden)

    López Hernández, Fernando

    2008-01-01

    Full Text Available In the present paper, we construct a new, simple, consistent and powerful test forspatial independence, called the SG test, by using symbolic dynamics and symbolic entropyas a measure of spatial dependence. We also give a standard asymptotic distribution of anaffine transformation of the symbolic entropy under the null hypothesis of independencein the spatial process. The test statistic and its standard limit distribution, with theproposed symbolization, are invariant to any monotonuous transformation of the data.The test applies to discrete or continuous distributions. Given that the test is based onentropy measures, it avoids smoothed nonparametric estimation. We include a MonteCarlo study of our test, together with the well-known Moran’s I, the SBDS (de Graaffet al, 2001 and (Brett and Pinkse, 1997 non parametric test, in order to illustrate ourapproach.

  19. Binary Classifier Calibration Using a Bayesian Non-Parametric Approach.

    Science.gov (United States)

    Naeini, Mahdi Pakdaman; Cooper, Gregory F; Hauskrecht, Milos

    Learning probabilistic predictive models that are well calibrated is critical for many prediction and decision-making tasks in Data mining. This paper presents two new non-parametric methods for calibrating outputs of binary classification models: a method based on the Bayes optimal selection and a method based on the Bayesian model averaging. The advantage of these methods is that they are independent of the algorithm used to learn a predictive model, and they can be applied in a post-processing step, after the model is learned. This makes them applicable to a wide variety of machine learning models and methods. These calibration methods, as well as other methods, are tested on a variety of datasets in terms of both discrimination and calibration performance. The results show the methods either outperform or are comparable in performance to the state-of-the-art calibration methods.

  20. LINKAGE ANALYSIS BY 2-DIMENSIONAL DNA TYPING

    NARCIS (Netherlands)

    MEERMAN, GJT; MULLAART, E; VANDERMEULEN, MA; DENDAAS, JHG; MOROLLI, B; UITTERLINDEN, AG; VIJG, J

    1993-01-01

    In two-dimensional (2-D) DNA typing, genomic DNA fragments are separated, first according to size by electrophoresis in a neutral polyacrylamide gel and second according to sequence by denaturing gradient gel electrophoresis, followed by hybridization analysis using micro- and minisatellite core pro

  1. Identification of quantitative trait loci underlying milk traits in Spanish dairy sheep using linkage plus combined linkage disequilibrium and linkage analysis approaches.

    Science.gov (United States)

    Garcia-Gámez, E; Gutiérrez-Gil, B; Suarez-Vega, A; de la Fuente, L F; Arranz, J J

    2013-09-01

    In this study, 2 procedures were used to analyze a data set from a whole-genome scan, one based on linkage analysis information and the other combing linkage disequilibrium and linkage analysis (LDLA), to determine the quantitative trait loci (QTL) influencing milk production traits in sheep. A total of 1,696 animals from 16 half-sib families were genotyped using the OvineSNP50 BeadChip (Illumina Inc., San Diego, CA) and analysis was performed using a daughter design. Moreover, the same data set has been previously investigated through a genome-wide association (GWA) analysis and a comparison of results from the 3 methods has been possible. The linkage analysis and LDLA methodologies yielded different results, although some significantly associated regions were common to both procedures. The linkage analysis detected 3 overlapping genome-wise significant QTL on sheep chromosome (OAR) 2 influencing milk yield, protein yield, and fat yield, whereas 34 genome-wise significant QTL regions were detected using the LDLA approach. The most significant QTL for protein and fat percentages was detected on OAR3, which was reported in a previous GWA analysis. Both the linkage analysis and LDLA identified many other chromosome-wise significant associations across different sheep autosomes. Additional analyses were performed on OAR2 and OAR3 to determine the possible causality of the most significant polymorphisms identified for these genetic effects by the previously reported GWA analysis. For OAR3, the analyses demonstrated additional genetic proof of the causality previously suggested by our group for a single nucleotide polymorphism located in the α-lactalbumin gene (LALBA). In summary, although the results shown here suggest that in commercial dairy populations, the LDLA method exhibits a higher efficiency to map QTL than the simple linkage analysis or linkage disequilibrium methods, we believe that comparing the 3 analysis methods is the best approach to obtain a global

  2. Linkage analysis on chromosome 2 in essential hypotension pedigrees

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    It is a new approach to study the important genes related to the control of blood pressure by probing into hypotension and hypertension at the same time. Genome scanning on whole chromosome 2 in 8 hypotension pedigrees has been done and parameter (LOD score) and non-pa- rameter (NPL score) were used in the linkage analysis by GENEHUNTER software. The results show the evidence of linkage between D2S112 and D2S117, indicating a number of critical genes may lie in thisregion and contribute to the mechanism of blood pressure regulation. Also this region has been found in the previous study in hypertension pedigrees. These genes may play an important role in the regulation of blood pressure and can also be the important candidate genes in hypertension studies.

  3. Nickel-catalyzed proton-deuterium exchange (HDX) procedures for glycosidic linkage analysis of complex carbohydrates

    Science.gov (United States)

    The structural analysis of complex carbohydrates typically requires the assignment of three parameters: monosaccharide composition, the position of glycosidic linkages between monosaccharides, and the position and nature of non-carbohydrate substituents. The glycosidic linkage positions are often de...

  4. A New Non-Parametric Approach to Galaxy Morphological Classification

    CERN Document Server

    Lotz, J M; Madau, P; Lotz, Jennifer M.; Primack, Joel; Madau, Piero

    2003-01-01

    We present two new non-parametric methods for quantifying galaxy morphology: the relative distribution of the galaxy pixel flux values (the Gini coefficient or G) and the second-order moment of the brightest 20% of the galaxy's flux (M20). We test the robustness of G and M20 to decreasing signal-to-noise and spatial resolution, and find that both measures are reliable to within 10% at average signal-to-noise per pixel greater than 3 and resolutions better than 1000 pc and 500 pc, respectively. We have measured G and M20, as well as concentration (C), asymmetry (A), and clumpiness (S) in the rest-frame near-ultraviolet/optical wavelengths for 150 bright local "normal" Hubble type galaxies (E-Sd) galaxies and 104 0.05 < z < 0.25 ultra-luminous infrared galaxies (ULIRGs).We find that most local galaxies follow a tight sequence in G-M20-C, where early-types have high G and C and low M20 and late-type spirals have lower G and C and higher M20. The majority of ULIRGs lie above the normal galaxy G-M20 sequence...

  5. Biological parametric mapping with robust and non-parametric statistics.

    Science.gov (United States)

    Yang, Xue; Beason-Held, Lori; Resnick, Susan M; Landman, Bennett A

    2011-07-15

    Mapping the quantitative relationship between structure and function in the human brain is an important and challenging problem. Numerous volumetric, surface, regions of interest and voxelwise image processing techniques have been developed to statistically assess potential correlations between imaging and non-imaging metrices. Recently, biological parametric mapping has extended the widely popular statistical parametric mapping approach to enable application of the general linear model to multiple image modalities (both for regressors and regressands) along with scalar valued observations. This approach offers great promise for direct, voxelwise assessment of structural and functional relationships with multiple imaging modalities. However, as presented, the biological parametric mapping approach is not robust to outliers and may lead to invalid inferences (e.g., artifactual low p-values) due to slight mis-registration or variation in anatomy between subjects. To enable widespread application of this approach, we introduce robust regression and non-parametric regression in the neuroimaging context of application of the general linear model. Through simulation and empirical studies, we demonstrate that our robust approach reduces sensitivity to outliers without substantial degradation in power. The robust approach and associated software package provide a reliable way to quantitatively assess voxelwise correlations between structural and functional neuroimaging modalities. Copyright © 2011 Elsevier Inc. All rights reserved.

  6. Non-parametric and least squares Langley plot methods

    Directory of Open Access Journals (Sweden)

    P. W. Kiedron

    2015-04-01

    Full Text Available Langley plots are used to calibrate sun radiometers primarily for the measurement of the aerosol component of the atmosphere that attenuates (scatters and absorbs incoming direct solar radiation. In principle, the calibration of a sun radiometer is a straightforward application of the Bouguer–Lambert–Beer law V=V>/i>0e−τ ·m, where a plot of ln (V voltage vs. m air mass yields a straight line with intercept ln (V0. This ln (V0 subsequently can be used to solve for τ for any measurement of V and calculation of m. This calibration works well on some high mountain sites, but the application of the Langley plot calibration technique is more complicated at other, more interesting, locales. This paper is concerned with ferreting out calibrations at difficult sites and examining and comparing a number of conventional and non-conventional methods for obtaining successful Langley plots. The eleven techniques discussed indicate that both least squares and various non-parametric techniques produce satisfactory calibrations with no significant differences among them when the time series of ln (V0's are smoothed and interpolated with median and mean moving window filters.

  7. Parametric and non-parametric modeling of short-term synaptic plasticity. Part II: Experimental study.

    Science.gov (United States)

    Song, Dong; Wang, Zhuo; Marmarelis, Vasilis Z; Berger, Theodore W

    2009-02-01

    This paper presents a synergistic parametric and non-parametric modeling study of short-term plasticity (STP) in the Schaffer collateral to hippocampal CA1 pyramidal neuron (SC) synapse. Parametric models in the form of sets of differential and algebraic equations have been proposed on the basis of the current understanding of biological mechanisms active within the system. Non-parametric Poisson-Volterra models are obtained herein from broadband experimental input-output data. The non-parametric model is shown to provide better prediction of the experimental output than a parametric model with a single set of facilitation/depression (FD) process. The parametric model is then validated in terms of its input-output transformational properties using the non-parametric model since the latter constitutes a canonical and more complete representation of the synaptic nonlinear dynamics. Furthermore, discrepancies between the experimentally-derived non-parametric model and the equivalent non-parametric model of the parametric model suggest the presence of multiple FD processes in the SC synapses. Inclusion of an additional set of FD process in the parametric model makes it replicate better the characteristics of the experimentally-derived non-parametric model. This improved parametric model in turn provides the requisite biological interpretability that the non-parametric model lacks.

  8. A Genome-Wide SNP Linkage Analysis Suggests a Susceptibility Locus on 6p21 for Ankylosing Spondylitis and Inflammatory Back Pain Trait

    Science.gov (United States)

    Zhang, Yanli; Liao, Zetao; Wei, Qiujing; Pan, Yunfeng; Wang, Xinwei; Cao, Shuangyan; Guo, Zishi; Wu, Yuqiong; Rong, Ju; Jin, Ou; Xu, Manlong; Gu, Jieruo

    2016-01-01

    Objectives To screen susceptibility loci for ankylosing spondylitis (AS) using an affected-only linkage analysis based on high-density single nucleotide polymorphisms (SNPs) in a genome-wide manner. Patients and Methods AS patients from ten families with Cantonese origin of China were enrolled in the study. Blood samples were genotyped using genomic DNA derived from peripheral blood leukocytes by Illumina HumanHap 610-Quad SNP Chip. Genotype data were generated using the Illumina BeadStudio 3.2 software. PLINK package was used to remove non-autosomal SNPs and to further eliminate markers of typing errors. An affected-only linkage analysis was carried out using both non-parametric and parametric linkage analyses, as implemented in MERLIN. Result Seventy-eight AS patients (48 males and 30 females, mean age: 39±16 years) were enrolled in the study. The mean age of onset was 23±10 years and mean duration of disease was 16.7±12.2 years. Iritis (2/76, 2.86%), dactylitis (5/78, 6.41%), hip joint involvement (9/78, 11.54%), peripheral arthritis (22/78, 28.21%), inflammatory back pain (IBP) (69/78, 88.46%) and HLA-B27 positivity (70/78, 89.74%) were observed in these patients. Using non-parameter linkage analysis, we found one susceptibility locus for AS, IBP and HLA-B27 in 6p21 respectively, spanning about 13.5Mb, 20.9Mb and 21.2Mb, respectively No significant results were found in the other clinical trait groups including dactylitis, hip involved and arthritis. The identical susceptibility locus region spanning above 9.44Mb was detected in AS IBP and HLA-B27 by the parametric linkage analysis. Conclusion Our genome-wide SNP linkage analysis in ten families with ankylosing spondylitis suggests a susceptibility locus on 6p21 in AS, which is a risk locus for IBP in AS patients. PMID:27973620

  9. Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

    Science.gov (United States)

    Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; Sun, Celi; Maiti, Amit K; Gagnebin, Maryline; Béna, Frédérique; Newkirk, Heather L; Sharp, Andrew J; Everman, David B; Murray, Jeffrey C; Schwartz, Charles E; Antonarakis, Stylianos E; Butler, Merlin G

    2017-01-01

    Background Omphalocele is a congenital birth defect characterised by the presence of internal organs located outside of the ventral abdominal wall. The purpose of this study was to identify the underlying genetic mechanisms of a large autosomal dominant Caucasian family with omphalocele. Methods and findings A genetic linkage study was conducted in a large family with an autosomal dominant transmission of an omphalocele using a genome-wide single nucleotide polymorphism (SNP) array. The analysis revealed significant evidence of linkage (non-parametric NPL = 6.93, p=0.0001; parametric logarithm of odds (LOD) = 2.70 under a fully penetrant dominant model) at chromosome band 1p31.3. Haplotype analysis narrowed the locus to a 2.74 Mb region between markers rs2886770 (63014807 bp) and rs1343981 (65757349 bp). Molecular characterisation of this interval using array comparative genomic hybridisation followed by quantitative microsphere hybridisation analysis revealed a 710 kb duplication located at 63.5–64.2 Mb. All affected individuals who had an omphalocele and shared the haplotype were positive for this duplicated region, while the duplication was absent from all normal individuals of this family. Multipoint linkage analysis using the duplication as a marker yielded a maximum LOD score of 3.2 at 1p31.3 under a dominant model. The 710 kb duplication at 1p31.3 band contains seven known genes including FOXD3, ALG6, ITGB3BP, KIAA1799, DLEU2L, PGM1, and the proximal portion of ROR1. Importantly, this duplication is absent from the database of genomic variants. Conclusions The present study suggests that development of an omphalocele in this family is controlled by overexpression of one or more genes in the duplicated region. To the authors’ knowledge, this is the first reported association of an inherited omphalocele condition with a chromosomal rearrangement. PMID:22499347

  10. Non-parametric star formation histories for 5 dwarf spheroidal galaxies of the local group

    CERN Document Server

    Hernández, X; Valls-Gabaud, D; Gilmore, Gerard; Valls-Gabaud, David

    2000-01-01

    We use recent HST colour-magnitude diagrams of the resolved stellar populations of a sample of local dSph galaxies (Carina, LeoI, LeoII, Ursa Minor and Draco) to infer the star formation histories of these systems, $SFR(t)$. Applying a new variational calculus maximum likelihood method which includes a full Bayesian analysis and allows a non-parametric estimate of the function one is solving for, we infer the star formation histories of the systems studied. This method has the advantage of yielding an objective answer, as one need not assume {\\it a priori} the form of the function one is trying to recover. The results are checked independently using Saha's $W$ statistic. The total luminosities of the systems are used to normalize the results into physical units and derive SN type II rates. We derive the luminosity weighted mean star formation history of this sample of galaxies.

  11. Non-parametric co-clustering of large scale sparse bipartite networks on the GPU

    DEFF Research Database (Denmark)

    Hansen, Toke Jansen; Mørup, Morten; Hansen, Lars Kai

    2011-01-01

    Co-clustering is a problem of both theoretical and practical importance, e.g., market basket analysis and collaborative filtering, and in web scale text processing. We state the co-clustering problem in terms of non-parametric generative models which can address the issue of estimating the number...... of row and column clusters from a hypothesis space of an infinite number of clusters. To reach large scale applications of co-clustering we exploit that parameter inference for co-clustering is well suited for parallel computing. We develop a generic GPU framework for efficient inference on large scale......-life large scale collaborative filtering data and web scale text corpora, demonstrating that latent mesoscale structures extracted by the co-clustering problem as formulated by the Infinite Relational Model (IRM) are consistent across consecutive runs with different initializations and also relevant...

  12. Measuring the influence of information networks on transaction costs using a non-parametric regression technique

    DEFF Research Database (Denmark)

    Henningsen, Geraldine; Henningsen, Arne; Henning, Christian H. C. A.

    All business transactions as well as achieving innovations take up resources, subsumed under the concept of transaction costs (TAC). One of the major factors in TAC theory is information. Information networks can catalyse the interpersonal information exchange and hence, increase the access...... to nonpublic information. Our analysis shows that information networks have an impact on the level of TAC. Many resources that are sacrificed for TAC are inputs that also enter the technical production process. As most production data do not separate between these two usages of inputs, high transaction costs...... are unveiled by reduced productivity. A cross-validated local linear non-parametric regression shows that good information networks increase the productivity of farms. A bootstrapping procedure confirms that this result is statistically significant....

  13. The application of non-parametric statistical techniques to an ALARA programme.

    Science.gov (United States)

    Moon, J H; Cho, Y H; Kang, C S

    2001-01-01

    For the cost-effective reduction of occupational radiation dose (ORD) at nuclear power plants, it is necessary to identify what are the processes of repetitive high ORD during maintenance and repair operations. To identify the processes, the point values such as mean and median are generally used, but they sometimes lead to misjudgment since they cannot show other important characteristics such as dose distributions and frequencies of radiation jobs. As an alternative, the non-parametric analysis method is proposed, which effectively identifies the processes of repetitive high ORD. As a case study, the method is applied to ORD data of maintenance and repair processes at Kori Units 3 and 4 that are pressurised water reactors with 950 MWe capacity and have been operating since 1986 and 1987 respectively, in Korea and the method is demonstrated to be an efficient way of analysing the data.

  14. A multitemporal and non-parametric approach for assessing the impacts of drought on vegetation greenness

    DEFF Research Database (Denmark)

    Carrao, Hugo; Sepulcre, Guadalupe; Horion, Stéphanie Marie Anne F;

    2013-01-01

    for the period between 1998 and 2010. The time-series analysis of vegetation greenness is performed during the growing season with a non-parametric method, namely the seasonal Relative Greenness (RG) of spatially accumulated fAPAR. The Global Land Cover map of 2000 and the GlobCover maps of 2005/2006 and 2009......This study evaluates the relationship between the frequency and duration of meteorological droughts and the subsequent temporal changes on the quantity of actively photosynthesizing biomass (greenness) estimated from satellite imagery on rainfed croplands in Latin America. An innovative non...... Full Data Reanalysis precipitation time-series product, which ranges from January 1901 to December 2010 and is interpolated at the spatial resolution of 1° (decimal degree, DD). Vegetation greenness composites are derived from 10-daily SPOT-VEGETATION images at the spatial resolution of 1/112° DD...

  15. Comparative Study of Parametric and Non-parametric Approaches in Fault Detection and Isolation

    DEFF Research Database (Denmark)

    Katebi, S.D.; Blanke, M.; Katebi, M.R.

    This report describes a comparative study between two approaches to fault detection and isolation in dynamic systems. The first approach uses a parametric model of the system. The main components of such techniques are residual and signature generation for processing and analyzing. The second...... approach is non-parametric in the sense that the signature analysis is only dependent on the frequency or time domain information extracted directly from the input-output signals. Based on these approaches, two different fault monitoring schemes are developed where the feature extraction and fault decision...... algorithms employed are adopted from the template matching in pattern recognition. Extensive simulation studies are performed to demonstrate satisfactory performance of the proposed techniques. The advantages and disadvantages of each approach are discussed and analyzed....

  16. Developing two non-parametric performance models for higher learning institutions

    Science.gov (United States)

    Kasim, Maznah Mat; Kashim, Rosmaini; Rahim, Rahela Abdul; Khan, Sahubar Ali Muhamed Nadhar

    2016-08-01

    Measuring the performance of higher learning Institutions (HLIs) is a must for these institutions to improve their excellence. This paper focuses on formation of two performance models: efficiency and effectiveness models by utilizing a non-parametric method, Data Envelopment Analysis (DEA). The proposed models are validated by measuring the performance of 16 public universities in Malaysia for year 2008. However, since data for one of the variables is unavailable, an estimate was used as a proxy to represent the real data. The results show that average efficiency and effectiveness scores were 0.817 and 0.900 respectively, while six universities were fully efficient and eight universities were fully effective. A total of six universities were both efficient and effective. It is suggested that the two proposed performance models would work as complementary methods to the existing performance appraisal method or as alternative methods in monitoring the performance of HLIs especially in Malaysia.

  17. Factors associated with malnutrition among tribal children in India: a non-parametric approach.

    Science.gov (United States)

    Debnath, Avijit; Bhattacharjee, Nairita

    2014-06-01

    The purpose of this study is to identify the determinants of malnutrition among the tribal children in India. The investigation is based on secondary data compiled from the National Family Health Survey-3. We used a classification and regression tree model, a non-parametric approach, to address the objective. Our analysis shows that breastfeeding practice, economic status, antenatal care of mother and women's decision-making autonomy are negatively associated with malnutrition among tribal children. We identify maternal malnutrition and urban concentration of household as the two risk factors for child malnutrition. The identified associated factors may be used for designing and targeting preventive programmes for malnourished tribal children. © The Author [2014]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Non-parametric combination and related permutation tests for neuroimaging.

    Science.gov (United States)

    Winkler, Anderson M; Webster, Matthew A; Brooks, Jonathan C; Tracey, Irene; Smith, Stephen M; Nichols, Thomas E

    2016-04-01

    In this work, we show how permutation methods can be applied to combination analyses such as those that include multiple imaging modalities, multiple data acquisitions of the same modality, or simply multiple hypotheses on the same data. Using the well-known definition of union-intersection tests and closed testing procedures, we use synchronized permutations to correct for such multiplicity of tests, allowing flexibility to integrate imaging data with different spatial resolutions, surface and/or volume-based representations of the brain, including non-imaging data. For the problem of joint inference, we propose and evaluate a modification of the recently introduced non-parametric combination (NPC) methodology, such that instead of a two-phase algorithm and large data storage requirements, the inference can be performed in a single phase, with reasonable computational demands. The method compares favorably to classical multivariate tests (such as MANCOVA), even when the latter is assessed using permutations. We also evaluate, in the context of permutation tests, various combining methods that have been proposed in the past decades, and identify those that provide the best control over error rate and power across a range of situations. We show that one of these, the method of Tippett, provides a link between correction for the multiplicity of tests and their combination. Finally, we discuss how the correction can solve certain problems of multiple comparisons in one-way ANOVA designs, and how the combination is distinguished from conjunctions, even though both can be assessed using permutation tests. We also provide a common algorithm that accommodates combination and correction.

  19. A Non-parametric Analysis of Morbidity/Mortality Data

    Science.gov (United States)

    1998-11-01

    numjcov,cov,numout); %sumstd(denjcov,cov, denout ); /**The files numout and denout contain one observation each*** ***with variables sum and stdev...symput(’numsum’,compress(sum)); stop; run; data _null_; set denout ; 51 sig = stdev*stdev; call symput(’densig’,compress(sig)); call symput(’densum...covden,2,1,&rownum,&colnum,denjcov); %sumstd(numjcov,cov,numout); %sumstd(denjcov,cov, denout ); /**The files numout and denout contain one observation each

  20. Non-parametric PSF estimation from celestial transit solar images using blind deconvolution

    Science.gov (United States)

    González, Adriana; Delouille, Véronique; Jacques, Laurent

    2016-01-01

    Context: Characterization of instrumental effects in astronomical imaging is important in order to extract accurate physical information from the observations. The measured image in a real optical instrument is usually represented by the convolution of an ideal image with a Point Spread Function (PSF). Additionally, the image acquisition process is also contaminated by other sources of noise (read-out, photon-counting). The problem of estimating both the PSF and a denoised image is called blind deconvolution and is ill-posed. Aims: We propose a blind deconvolution scheme that relies on image regularization. Contrarily to most methods presented in the literature, our method does not assume a parametric model of the PSF and can thus be applied to any telescope. Methods: Our scheme uses a wavelet analysis prior model on the image and weak assumptions on the PSF. We use observations from a celestial transit, where the occulting body can be assumed to be a black disk. These constraints allow us to retain meaningful solutions for the filter and the image, eliminating trivial, translated, and interchanged solutions. Under an additive Gaussian noise assumption, they also enforce noise canceling and avoid reconstruction artifacts by promoting the whiteness of the residual between the blurred observations and the cleaned data. Results: Our method is applied to synthetic and experimental data. The PSF is estimated for the SECCHI/EUVI instrument using the 2007 Lunar transit, and for SDO/AIA using the 2012 Venus transit. Results show that the proposed non-parametric blind deconvolution method is able to estimate the core of the PSF with a similar quality to parametric methods proposed in the literature. We also show that, if these parametric estimations are incorporated in the acquisition model, the resulting PSF outperforms both the parametric and non-parametric methods.

  1. Non-parametric PSF estimation from celestial transit solar images using blind deconvolution

    Directory of Open Access Journals (Sweden)

    González Adriana

    2016-01-01

    Full Text Available Context: Characterization of instrumental effects in astronomical imaging is important in order to extract accurate physical information from the observations. The measured image in a real optical instrument is usually represented by the convolution of an ideal image with a Point Spread Function (PSF. Additionally, the image acquisition process is also contaminated by other sources of noise (read-out, photon-counting. The problem of estimating both the PSF and a denoised image is called blind deconvolution and is ill-posed. Aims: We propose a blind deconvolution scheme that relies on image regularization. Contrarily to most methods presented in the literature, our method does not assume a parametric model of the PSF and can thus be applied to any telescope. Methods: Our scheme uses a wavelet analysis prior model on the image and weak assumptions on the PSF. We use observations from a celestial transit, where the occulting body can be assumed to be a black disk. These constraints allow us to retain meaningful solutions for the filter and the image, eliminating trivial, translated, and interchanged solutions. Under an additive Gaussian noise assumption, they also enforce noise canceling and avoid reconstruction artifacts by promoting the whiteness of the residual between the blurred observations and the cleaned data. Results: Our method is applied to synthetic and experimental data. The PSF is estimated for the SECCHI/EUVI instrument using the 2007 Lunar transit, and for SDO/AIA using the 2012 Venus transit. Results show that the proposed non-parametric blind deconvolution method is able to estimate the core of the PSF with a similar quality to parametric methods proposed in the literature. We also show that, if these parametric estimations are incorporated in the acquisition model, the resulting PSF outperforms both the parametric and non-parametric methods.

  2. 非参数项目反应理论回顾与展望%The Retrospect and Prospect of Non-parametric Item Response Theory

    Institute of Scientific and Technical Information of China (English)

    陈婧; 康春花; 钟晓玲

    2013-01-01

      相比参数项目反应理论,非参数项目反应理论提供了更吻合实践情境的理论框架。目前非参数项目反应理论研究主要关注参数估计方法及其比较、数据-模型拟合验证等方面,其应用研究则集中于量表修订及个性数据和项目功能差异分析,而在认知诊断理论基础上发展起来的非参数认知诊断理论更是凸显其应用优势。未来研究应更多侧重于非参数项目反应理论的实践应用,对非参数认知诊断理论的研究也值得关注,以充分发挥非参数方法在实践领域的应用优势。%  Compared to parametric item response theory, non-parametric item response theory provide a more appropriate theoretical framework of practice situations. Non-parametric item response theory research focuses on parameter estimation methods and its comparison, data- model fitting verify etc. currently.Its applied research concentrate on scale amendments, personalized data and differential item functioning analysis. Non-parametric cognitive diagnostic theory which based on the parametric cognitive diagnostic theory gives prominence to the advantages of its application.To give full play to the advantages of non-parametric methods in practice,future studies should emphasis on the application of non-parametric item response theory while cognitive diagnosis of the non-parametric study is also worth of attention.

  3. Detection of tandam duplications and implications for linkage analysis

    Energy Technology Data Exchange (ETDEWEB)

    Matise, T.C.; Weeks, D.E. (Univ. of Pittsburgh, PA (United States)); Chakravarti, A. (Case Western Reserve Univ., Cleveland, OH (United States)); Patel, P.I.; Lupski, J.R. (Baylor College of Medicine, Houston, TX (United States)); Nelis, E.; Timmerman, V.; Van Broeckhoven, C. (Univ. of Antwerp (Belgium))

    1994-06-01

    The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A). For this disorder, the segmental trisomy is due to a large tandem duplication of 1.5 Mb of DNA located on chromosome 17p11.2-p12. The search for the CMT1A disease gene was misdirected and impeded because some chromosome 17 genetic markers that are linked to CMT1A lie within this duplication. To better understand how such a duplication might affect genetic analyses in the context of disease gene mapping, the authors studied the effects of marker duplication on transmission probabilities of marker alleles, on linkage analysis of an autosomal dominant disease, and on tests of linkage homogeneity. They demonstrate that the undetected presence of a duplication distorts transmission ratios, hampers fine localization of the disease gene, and increases false evidence of linkage heterogeneity. In addition, they devised a likelihood-based method for detecting the presence of a tandemly duplicated marker when one is suspected. They tested their methods through computer simulations and on CMT1A pedigrees genotyped at several chromosome 17 markers. On the simulated data, the method detected 96% of duplicated markers (with a false-positive rate of 5%). On the CMT1A data the method successfully identified two of three loci that are duplicated (with no false positives). This method could be used to identify duplicated markers in other regions of the genome and could be used to delineate the extent of duplications similar to that involved in CMT1A. 18 refs., 5 figs., 6 tabs.

  4. A Conservative Meta-Analysis of Linkage and Linkage-Association Studies of Developmental Dyslexia

    Science.gov (United States)

    Grigorenko, Elena L.

    2005-01-01

    Linkage studies of complex phenotypes such as reading ability/disability (developmental dyslexia or reading disorder) and related componential processes, where the effects attributable to individual genes appear to be modest, are critically dependent on the nature and composition of the samples and the phenotypes analyzed. Thus, it might be…

  5. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height.

    Science.gov (United States)

    Hirschhorn, J N; Lindgren, C M; Daly, M J; Kirby, A; Schaffner, S F; Burtt, N P; Altshuler, D; Parker, A; Rioux, J D; Platko, J; Gaudet, D; Hudson, T J; Groop, L C; Lander, E S

    2001-07-01

    Genomewide linkage analysis has been extremely successful at identification of the genetic variation underlying single-gene disorders. However, linkage analysis has been less successful for common human diseases and other complex traits in which multiple genetic and environmental factors interact to influence disease risk. We hypothesized that a highly heritable complex trait, in which the contribution of environmental factors was relatively limited, might be more amenable to linkage analysis. We therefore chose to study stature (adult height), for which heritability is approximately 75%-90% (Phillips and Matheny 1990; Carmichael and McGue 1995; Preece 1996; Silventoinen et al. 2000). We reanalyzed genomewide scans from four populations for which genotype and height data were available, using a variance-components method implemented in GENEHUNTER 2.0 (Pratt et al. 2000). The populations consisted of 408 individuals in 58 families from the Botnia region of Finland, 753 individuals in 183 families from other parts of Finland, 746 individuals in 179 families from Southern Sweden, and 420 individuals in 63 families from the Saguenay-Lac-St.-Jean region of Quebec. Four regions showed evidence of linkage to stature: 6q24-25, multipoint LOD score 3.85 at marker D6S1007 in Botnia (genomewide Pgenetically tractable and provide insight into the genetic architecture of complex traits.

  6. Continuous/discrete non parametric Bayesian belief nets with UNICORN and UNINET

    NARCIS (Netherlands)

    Cooke, R.M.; Kurowicka, D.; Hanea, A.M.; Morales Napoles, O.; Ababei, D.A.; Ale, B.J.M.; Roelen, A.

    2007-01-01

    Hanea et al. (2006) presented a method for quantifying and computing continuous/discrete non parametric Bayesian Belief Nets (BBN). Influences are represented as conditional rank correlations, and the joint normal copula enables rapid sampling and conditionalization. Further mathematical background

  7. Kernel bandwidth estimation for non-parametric density estimation: a comparative study

    CSIR Research Space (South Africa)

    Van der Walt, CM

    2013-12-01

    Full Text Available We investigate the performance of conventional bandwidth estimators for non-parametric kernel density estimation on a number of representative pattern-recognition tasks, to gain a better understanding of the behaviour of these estimators in high...

  8. Association and linkage analysis of aluminum tolerance genes in maize.

    Directory of Open Access Journals (Sweden)

    Allison M Krill

    Full Text Available BACKGROUND: Aluminum (Al toxicity is a major worldwide constraint to crop productivity on acidic soils. Al becomes soluble at low pH, inhibiting root growth and severely reducing yields. Maize is an important staple food and commodity crop in acidic soil regions, especially in South America and Africa where these soils are very common. Al exclusion and intracellular tolerance have been suggested as two important mechanisms for Al tolerance in maize, but little is known about the underlying genetics. METHODOLOGY: An association panel of 282 diverse maize inbred lines and three F2 linkage populations with approximately 200 individuals each were used to study genetic variation in this complex trait. Al tolerance was measured as net root growth in nutrient solution under Al stress, which exhibited a wide range of variation between lines. Comparative and physiological genomics-based approaches were used to select 21 candidate genes for evaluation by association analysis. CONCLUSIONS: Six candidate genes had significant results from association analysis, but only four were confirmed by linkage analysis as putatively contributing to Al tolerance: Zea mays AltSB like (ZmASL, Zea mays aluminum-activated malate transporter2 (ALMT2, S-adenosyl-L-homocysteinase (SAHH, and Malic Enzyme (ME. These four candidate genes are high priority subjects for follow-up biochemical and physiological studies on the mechanisms of Al tolerance in maize. Immediately, elite haplotype-specific molecular markers can be developed for these four genes and used for efficient marker-assisted selection of superior alleles in Al tolerance maize breeding programs.

  9. Hierarchical Cluster Analysis: Comparison of Three Linkage Measures and Application to Psychological Data

    Directory of Open Access Journals (Sweden)

    Odilia Yim

    2015-02-01

    Full Text Available Cluster analysis refers to a class of data reduction methods used for sorting cases, observations, or variables of a given dataset into homogeneous groups that differ from each other. The present paper focuses on hierarchical agglomerative cluster analysis, a statistical technique where groups are sequentially created by systematically merging similar clusters together, as dictated by the distance and linkage measures chosen by the researcher. Specific distance and linkage measures are reviewed, including a discussion of how these choices can influence the clustering process by comparing three common linkage measures (single linkage, complete linkage, average linkage. The tutorial guides researchers in performing a hierarchical cluster analysis using the SPSS statistical software. Through an example, we demonstrate how cluster analysis can be used to detect meaningful subgroups in a sample of bilinguals by examining various language variables.

  10. Importance sampling. I. Computing multimodel p values in linkage analysis

    Energy Technology Data Exchange (ETDEWEB)

    Kong, A.; Frigge, M.; Irwin, M.; Cox, N. (Univ. of Chicago, IL (United States))

    1992-12-01

    In linkage analysis, when the lod score is maximized over multiple genetic models, standard asymptotic approximation of the significance level does not apply. Monte Carlo methods can be used to estimate the p value, but procedures currently used are extremely inefficient. The authors propose a Monte Carlo procedure based on the concept of importance sampling, which can be thousands of times more efficient than current procedures. With a reasonable amount of computing time, extremely accurate estimates of the p values can be obtained. Both theoretical results and an example of maturity-onset diabetes of the young (MODY) are presented to illustrate the efficiency performance of their method. Relations between single-model and multimodel p values are explored. The new procedure is also used to investigate the performance of asymptotic approximations in a single model situation. 22 refs., 6 figs., 1 tab.

  11. Genotype transposer: automated genotype manipulation for linkage disequilibrium analysis.

    Science.gov (United States)

    Cox, D G; Canzian, F

    2001-08-01

    The purpose of this work is to provide the modern molecular geneticist with tools to perform more efficient and more accurate analysis of the genotype data they produce. By using Microsoft Excel macros written in Visual Basic, we can translate genotype data into a form readable by the versatile software 'Arlequin', read the Arlequin output, calculate statistics of linkage disequilibrium, and put the results in a format for viewing with the software 'GOLD'. The software is available by FTP at: ftp://xcsg.iarc.fr/cox/Genotype_Transposer/. Detailed instruction and examples are available at: ftp://xcsg.iarc.fr/cox/Genotype&_Transposer/. Arlequin is available at: http://lgb.unige.ch/arlequin/. GOLD is available at: http://www.well.ox.ac.uk/asthma/GOLD/.

  12. Genome-wide linkage analysis for human longevity

    DEFF Research Database (Denmark)

    Beekman, Marian; Blanché, Hélène; Perola, Markus

    2013-01-01

    sibling pairs that have been enrolled in 15 study centers of 11 European countries as part of the Genetics of Healthy Aging (GEHA) project. In the joint linkage analyses, we observed four regions that show linkage with longevity; chromosome 14q11.2 (LOD = 3.47), chromosome 17q12-q22 (LOD = 2...

  13. Mapping multiple QTL using linkage disequilibrium and linkage analysis information and multitrait data

    Directory of Open Access Journals (Sweden)

    Goddard Mike E

    2004-05-01

    Full Text Available Abstract A multi-locus QTL mapping method is presented, which combines linkage and linkage disequilibrium (LD information and uses multitrait data. The method assumed a putative QTL at the midpoint of each marker bracket. Whether the putative QTL had an effect or not was sampled using Markov chain Monte Carlo (MCMC methods. The method was tested in dairy cattle data on chromosome 14 where the DGAT1 gene was known to be segregating. The DGAT1 gene was mapped to a region of 0.04 cM, and the effects of the gene were accurately estimated. The fitting of multiple QTL gave a much sharper indication of the QTL position than a single QTL model using multitrait data, probably because the multi-locus QTL mapping reduced the carry over effect of the large DGAT1 gene to adjacent putative QTL positions. This suggests that the method could detect secondary QTL that would, in single point analyses, remain hidden under the broad peak of the dominant QTL. However, no indications for a second QTL affecting dairy traits were found on chromosome 14.

  14. Non-parametric three-way mixed ANOVA with aligned rank tests.

    Science.gov (United States)

    Oliver-Rodríguez, Juan C; Wang, X T

    2015-02-01

    Research problems that require a non-parametric analysis of multifactor designs with repeated measures arise in the behavioural sciences. There is, however, a lack of available procedures in commonly used statistical packages. In the present study, a generalization of the aligned rank test for the two-way interaction is proposed for the analysis of the typical sources of variation in a three-way analysis of variance (ANOVA) with repeated measures. It can be implemented in the usual statistical packages. Its statistical properties are tested by using simulation methods with two sample sizes (n = 30 and n = 10) and three distributions (normal, exponential and double exponential). Results indicate substantial increases in power for non-normal distributions in comparison with the usual parametric tests. Similar levels of Type I error for both parametric and aligned rank ANOVA were obtained with non-normal distributions and large sample sizes. Degrees-of-freedom adjustments for Type I error control in small samples are proposed. The procedure is applied to a case study with 30 participants per group where it detects gender differences in linguistic abilities in blind children not shown previously by other methods.

  15. A statistical design for testing apomictic diversification through linkage analysis.

    Science.gov (United States)

    Zeng, Yanru; Hou, Wei; Song, Shuang; Feng, Sisi; Shen, Lin; Xia, Guohua; Wu, Rongling

    2014-03-01

    The capacity of apomixis to generate maternal clones through seed reproduction has made it a useful characteristic for the fixation of heterosis in plant breeding. It has been observed that apomixis displays pronounced intra- and interspecific diversification, but the genetic mechanisms underlying this diversification remains elusive, obstructing the exploitation of this phenomenon in practical breeding programs. By capitalizing on molecular information in mapping populations, we describe and assess a statistical design that deploys linkage analysis to estimate and test the pattern and extent of apomictic differences at various levels from genotypes to species. The design is based on two reciprocal crosses between two individuals each chosen from a hermaphrodite or monoecious species. A multinomial distribution likelihood is constructed by combining marker information from two crosses. The EM algorithm is implemented to estimate the rate of apomixis and test its difference between two plant populations or species as the parents. The design is validated by computer simulation. A real data analysis of two reciprocal crosses between hickory (Carya cathayensis) and pecan (C. illinoensis) demonstrates the utilization and usefulness of the design in practice. The design provides a tool to address fundamental and applied questions related to the evolution and breeding of apomixis.

  16. Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs

    Directory of Open Access Journals (Sweden)

    Lannfelt Lars

    2009-12-01

    Full Text Available Abstract Background Genome-wide linkage studies for Alzheimer's disease have implicated several chromosomal regions as potential loci for susceptibility genes. Methods In the present study, we have combined a selection of affected relative pairs (ARPs from the UK and the USA included in a previous linkage study by Myers et al. (Am J Med Genet, 2002, with ARPs from Sweden and Washington University. In this total sample collection of 397 ARPs, we have analyzed linkage to chromosomes 1, 9, 10, 12, 19 and 21, implicated in the previous scan. Results The analysis revealed that linkage to chromosome 19q13 close to the APOE locus increased considerably as compared to the earlier scan. However, linkage to chromosome 10q21, which provided the strongest linkage in the previous scan could not be detected. Conclusion The present investigation provides yet further evidence that 19q13 is the only chromosomal region consistently linked to Alzheimer's disease.

  17. A Non-parametric Approach to the Overall Estimate of Cognitive Load Using NIRS Time Series.

    Science.gov (United States)

    Keshmiri, Soheil; Sumioka, Hidenobu; Yamazaki, Ryuji; Ishiguro, Hiroshi

    2017-01-01

    We present a non-parametric approach to prediction of the n-back n ∈ {1, 2} task as a proxy measure of mental workload using Near Infrared Spectroscopy (NIRS) data. In particular, we focus on measuring the mental workload through hemodynamic responses in the brain induced by these tasks, thereby realizing the potential that they can offer for their detection in real world scenarios (e.g., difficulty of a conversation). Our approach takes advantage of intrinsic linearity that is inherent in the components of the NIRS time series to adopt a one-step regression strategy. We demonstrate the correctness of our approach through its mathematical analysis. Furthermore, we study the performance of our model in an inter-subject setting in contrast with state-of-the-art techniques in the literature to show a significant improvement on prediction of these tasks (82.50 and 86.40% for female and male participants, respectively). Moreover, our empirical analysis suggest a gender difference effect on the performance of the classifiers (with male data exhibiting a higher non-linearity) along with the left-lateralized activation in both genders with higher specificity in females.

  18. Non-parametric mass reconstruction of A1689 from strong lensing data with SLAP

    CERN Document Server

    Diego-Rodriguez, J M; Protopapas, P; Tegmark, M; Benítez, N; Broadhurst, T J

    2004-01-01

    We present the mass distribution in the central area of the cluster A1689 by fitting over 100 multiply lensed images with the non-parametric Strong Lensing Analysis Package (SLAP, Diego et al. 2004). The surface mass distribution is obtained in a robust way finding a total mass of 0.25E15 M_sun/h within a 70'' circle radius from the central peak. Our reconstructed density profile fits well an NFW profile with small perturbations due to substructure and is compatible with the more model dependent analysis of Broadhurst et al. (2004a) based on the same data. Our estimated mass does not rely on any prior information about the distribution of dark matter in the cluster. The peak of the mass distribution falls very close to the central cD and there is substructure near the center suggesting that the cluster is not fully relaxed. We also examine the effect on the recovered mass when we include the uncertainties in the redshift of the sources and in the original shape of the sources. Using simulations designed to mi...

  19. Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG families

    Directory of Open Access Journals (Sweden)

    Bailey-Wilson Joan E

    2012-06-01

    Full Text Available Abstract Background Genetic variants are likely to contribute to a portion of prostate cancer risk. Full elucidation of the genetic etiology of prostate cancer is difficult because of incomplete penetrance and genetic and phenotypic heterogeneity. Current evidence suggests that genetic linkage to prostate cancer has been found on several chromosomes including the X; however, identification of causative genes has been elusive. Methods Parametric and non-parametric linkage analyses were performed using 26 microsatellite markers in each of 11 groups of multiple-case prostate cancer families from the International Consortium for Prostate Cancer Genetics (ICPCG. Meta-analyses of the resultant family-specific linkage statistics across the entire 1,323 families and in several predefined subsets were then performed. Results Meta-analyses of linkage statistics resulted in a maximum parametric heterogeneity lod score (HLOD of 1.28, and an allele-sharing lod score (LOD of 2.0 in favor of linkage to Xq27-q28 at 138 cM. In subset analyses, families with average age at onset less than 65 years exhibited a maximum HLOD of 1.8 (at 138 cM versus a maximum regional HLOD of only 0.32 in families with average age at onset of 65 years or older. Surprisingly, the subset of families with only 2–3 affected men and some evidence of male-to-male transmission of prostate cancer gave the strongest evidence of linkage to the region (HLOD = 3.24, 134 cM. For this subset, the HLOD was slightly increased (HLOD = 3.47 at 134 cM when families used in the original published report of linkage to Xq27-28 were excluded. Conclusions Although there was not strong support for linkage to the Xq27-28 region in the complete set of families, the subset of families with earlier age at onset exhibited more evidence of linkage than families with later onset of disease. A subset of families with 2–3 affected individuals and with some evidence of male to male disease transmission

  20. Nickel-catalyzed proton-deuterium exchange (HDX) for linkage analysis of complex carbohydrates

    Science.gov (United States)

    The structural assignment of complex carbohydrates typically requires the analysis of at least three parameters: 1. composition; 2. linkage; and 3. substituents. These are often assigned on a small scale by gas chromatography/mass spectrometry (GC/MS). Linkage positions are determined by permethylat...

  1. Spectral decompositions of multiple time series: a Bayesian non-parametric approach.

    Science.gov (United States)

    Macaro, Christian; Prado, Raquel

    2014-01-01

    We consider spectral decompositions of multiple time series that arise in studies where the interest lies in assessing the influence of two or more factors. We write the spectral density of each time series as a sum of the spectral densities associated to the different levels of the factors. We then use Whittle's approximation to the likelihood function and follow a Bayesian non-parametric approach to obtain posterior inference on the spectral densities based on Bernstein-Dirichlet prior distributions. The prior is strategically important as it carries identifiability conditions for the models and allows us to quantify our degree of confidence in such conditions. A Markov chain Monte Carlo (MCMC) algorithm for posterior inference within this class of frequency-domain models is presented.We illustrate the approach by analyzing simulated and real data via spectral one-way and two-way models. In particular, we present an analysis of functional magnetic resonance imaging (fMRI) brain responses measured in individuals who participated in a designed experiment to study pain perception in humans.

  2. A Non-Parametric Delphi Approach to Foster Innovation Policy Debate in Spain

    Directory of Open Access Journals (Sweden)

    Juan Carlos Salazar-Elena

    2016-05-01

    Full Text Available The aim of this paper is to identify some changes needed in Spain’s innovation policy to fill the gap between its innovation results and those of other European countries in lieu of sustainable leadership. To do this we apply the Delphi methodology to experts from academia, business, and government. To overcome the shortcomings of traditional descriptive methods, we develop an inferential analysis by following a non-parametric bootstrap method which enables us to identify important changes that should be implemented. Particularly interesting is the support found for improving the interconnections among the relevant agents of the innovation system (instead of focusing exclusively in the provision of knowledge and technological inputs through R and D activities, or the support found for “soft” policy instruments aimed at providing a homogeneous framework to assess the innovation capabilities of firms (e.g., for funding purposes. Attention to potential innovators among small and medium enterprises (SMEs and traditional industries is particularly encouraged by experts.

  3. Genome-Wide Linkage Analysis for Loci Affecting Pulse Pressure: The Family Blood Pressure Program

    National Research Council Canada - National Science Library

    Bielinski, Suzette J; Lynch, Amy I; Miller, Michael B; Weder, Alan; Cooper, Richard; Oberman, Albert; Chen, Yii-Der Ida; Turner, Stephen T; Fornage, Myriam; Province, Michael; Arnett, Donna K

    2005-01-01

    ... in sequential oligogenic linkage analysis routines. The analysis sample included 10 798 participants in 3320 families who were recruited as part of the Family Blood Pressure Program and were phenotyped with an oscillometric blood pressure measurement...

  4. Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data

    Directory of Open Access Journals (Sweden)

    Smith Richard JH

    2005-02-01

    Full Text Available Abstract Background The identification of disease-associated genes using single nucleotide polymorphisms (SNPs has been increasingly reported. In particular, the Affymetrix Mapping 10 K SNP microarray platform uses one PCR primer to amplify the DNA samples and determine the genotype of more than 10,000 SNPs in the human genome. This provides the opportunity for large scale, rapid and cost-effective genotyping assays for linkage analysis. However, the analysis of such datasets is nontrivial because of the large number of markers, and visualizing the linkage scores in the context of genome maps remains less automated using the current linkage analysis software packages. For example, the haplotyping results are commonly represented in the text format. Results Here we report the development of a novel software tool called CompareLinkage for automated formatting of the Affymetrix Mapping 10 K genotype data into the "Linkage" format and the subsequent analysis with multi-point linkage software programs such as Merlin and Allegro. The new software has the ability to visualize the results for all these programs in dChip in the context of genome annotations and cytoband information. In addition we implemented a variant of the Lander-Green algorithm in the dChipLinkage module of dChip software (V1.3 to perform parametric linkage analysis and haplotyping of SNP array data. These functions are integrated with the existing modules of dChip to visualize SNP genotype data together with LOD score curves. We have analyzed three families with recessive and dominant diseases using the new software programs and the comparison results are presented and discussed. Conclusions The CompareLinkage and dChipLinkage software packages are freely available. They provide the visualization tools for high-density oligonucleotide SNP array data, as well as the automated functions for formatting SNP array data for the linkage analysis programs Merlin and Allegro and calling

  5. The optimal design for hypothesis test and its application in genetic linkage analysis

    Institute of Scientific and Technical Information of China (English)

    XIE; Minyu(谢民育); LI; Zhaohai(李照海)

    2003-01-01

    This paper proposes a class of linear models with inequable variance, based on background in genetic linkage analysis, and considers the optimal design problem for the hypothesis test of the parameters in such models. To assess a design for the test, a frame of decision theory is established. Under this frame, an admissible minimax design is obtained. It is shown to be not only admissible and minimax in genetic linkage analysis, but best among a reasonable subclass of designs. The power of the test in genetic linkage analysis is substantially improved by using this optimal design.

  6. Software for analysis and manipulation of genetic linkage data.

    Science.gov (United States)

    Weaver, R; Helms, C; Mishra, S K; Donis-Keller, H

    1992-06-01

    We present eight computer programs written in the C programming language that are designed to analyze genotypic data and to support existing software used to construct genetic linkage maps. Although each program has a unique purpose, they all share the common goals of affording a greater understanding of genetic linkage data and of automating tasks to make computers more effective tools for map building. The PIC/HET and FAMINFO programs automate calculation of relevant quantities such as heterozygosity, PIC, allele frequencies, and informativeness of markers and pedigrees. PREINPUT simplifies data submissions to the Centre d'Etude du Polymorphisme Humain (CEPH) data base by creating a file with genotype assignments that CEPH's INPUT program would otherwise require to be input manually. INHERIT is a program written specifically for mapping the X chromosome: by assigning a dummy allele to males, in the nonpseudoautosomal region, it eliminates falsely perceived noninheritances in the data set. The remaining four programs complement the previously published genetic linkage mapping software CRI-MAP and LINKAGE. TWOTABLE produces a more readable format for the output of CRI-MAP two-point calculations; UNMERGE is the converse to CRI-MAP's merge option; and GENLINK and LINKGEN automatically convert between the genotypic data file formats required by these packages. All eight applications read input from the same types of data files that are used by CRI-MAP and LINKAGE. Their use has simplified the management of data, has increased knowledge of the content of information in pedigrees, and has reduced the amount of time needed to construct genetic linkage maps of chromosomes.

  7. Homothetic Efficiency and Test Power: A Non-Parametric Approach

    NARCIS (Netherlands)

    J. Heufer (Jan); P. Hjertstrand (Per)

    2015-01-01

    markdownabstract__Abstract__ We provide a nonparametric revealed preference approach to demand analysis based on homothetic efficiency. Homotheticity is a useful restriction but data rarely satisfies testable conditions. To overcome this we provide a way to estimate homothetic efficiency of

  8. Análise não-paramétrica da sanidade de sementes e índices de eliminação e classificação de genótipos de soja Non-parametric analysis of seed sanity and elimination and ranking indices of soybean genotypes

    Directory of Open Access Journals (Sweden)

    Edmar Soares de Vasconcelos

    2008-03-01

    Full Text Available O objetivo deste trabalho foi avaliar genótipos de soja quanto à sanidade de semente, com um método de análise, pelo qual se obtém índices de sanidade (eliminação e classificação com base em análise não-paramétrica. Esses índices consistiram em eliminar os genótipos com incidência de patógenos acima de um dado valor, estabelecido pelo experimentador e, em seguida, classificar os genótipos não eliminados, por ordem de incidência desses patógenos. A fim de comprovar sua eficácia, realizaram-se a simulação e comparação desse método com outros, e seu uso em dados de germinação e sanidade das sementes de cultivares e linhagens de soja, de ensaios finais do Programa de Melhoramento de Soja, do Departamento de Fitotecnia, da Universidade Federal de Viçosa, conduzidos no ano agrícola de 2002/2003. Os pesos das variáveis e os limites de corte, utilizados nos índices, foram estabelecidos tendo-se levado em consideração estudos que relacionam a sanidade das sementes e sua germinação. A utilização dos índices propostos permite classificar genótipos de soja, quanto à qualidade sanitária das sementes, e eliminar das análises os genótipos que não atingiram os níveis mínimos requeridos.The objective of this work was to assess soybean genotypes for seed sanity, with a method by which a sanity index (elimination and classification is obtained based on non-parametric analysis. This index consisted in the elimination of genotypes with pathogen incidence above a certain value, established by the researcher, and then the classification of the noneliminated genotypes in the first step, ordering them according to the incidence of the pathogens. To verify its effectiveness, it was accomplished a simulation study and comparison of this proposed method with others, and its use in germination and sanity data of seeds from soybean lineages and cultivars of final experiments of the Soybean Breeding Program of Departmento de

  9. Analysis of Linkage Effects among Currency Networks Using REER Data

    Directory of Open Access Journals (Sweden)

    Haishu Qiao

    2015-01-01

    Full Text Available We modeled the currency networks through the use of REER (real effective exchange rate instead of a bilateral exchange rate in order to overcome the confusion in selecting base currencies. Based on the MST (minimum spanning tree approach and the rolling-window method, we constructed time-varying and correlation-based networks with which we investigate the linkage effects among different currencies. In particular, and as the source of empirical data, we chose the monthly REER data for a set of 61 major currencies during the period from 1994 to 2014. The study demonstrated that obvious linkage effects existed among currency networks and the euro (EUR was confirmed as the predominant world currency. Additionally, we used the rolling-window method to investigate the stability of linkage effects, doing so by calculating the mean correlations and mean distances as well as the normalized tree length and degrees of those currencies. The results showed that financial crises during the study period had a great effect on the currency network’s topology structure and led to more clustered currency networks. Our results suggested that it is more appropriate to estimate the linkage effects among currency networks through the use of REER data.

  10. Non-parametric Estimation of Diffusion-Paths Using Wavelet Scaling Methods

    DEFF Research Database (Denmark)

    Høg, Esben

    In continuous time, diffusion processes have been used for modelling financial dynamics for a long time. For example the Ornstein-Uhlenbeck process (the simplest mean-reverting process) has been used to model non-speculative price processes. We discuss non--parametric estimation of these processes...

  11. Non-parametric system identification from non-linear stochastic response

    DEFF Research Database (Denmark)

    Rüdinger, Finn; Krenk, Steen

    2001-01-01

    An estimation method is proposed for identification of non-linear stiffness and damping of single-degree-of-freedom systems under stationary white noise excitation. Non-parametric estimates of the stiffness and damping along with an estimate of the white noise intensity are obtained by suitable p...

  12. Non-Parametric Bayesian Updating within the Assessment of Reliability for Offshore Wind Turbine Support Structures

    DEFF Research Database (Denmark)

    Ramirez, José Rangel; Sørensen, John Dalsgaard

    2011-01-01

    This work illustrates the updating and incorporation of information in the assessment of fatigue reliability for offshore wind turbine. The new information, coming from external and condition monitoring can be used to direct updating of the stochastic variables through a non-parametric Bayesian u...

  13. Comparison of reliability techniques of parametric and non-parametric method

    Directory of Open Access Journals (Sweden)

    C. Kalaiselvan

    2016-06-01

    Full Text Available Reliability of a product or system is the probability that the product performs adequately its intended function for the stated period of time under stated operating conditions. It is function of time. The most widely used nano ceramic capacitor C0G and X7R is used in this reliability study to generate the Time-to failure (TTF data. The time to failure data are identified by Accelerated Life Test (ALT and Highly Accelerated Life Testing (HALT. The test is conducted at high stress level to generate more failure rate within the short interval of time. The reliability method used to convert accelerated to actual condition is Parametric method and Non-Parametric method. In this paper, comparative study has been done for Parametric and Non-Parametric methods to identify the failure data. The Weibull distribution is identified for parametric method; Kaplan–Meier and Simple Actuarial Method are identified for non-parametric method. The time taken to identify the mean time to failure (MTTF in accelerating condition is the same for parametric and non-parametric method with relative deviation.

  14. Non-Parametric Estimation of Diffusion-Paths Using Wavelet Scaling Methods

    DEFF Research Database (Denmark)

    Høg, Esben

    2003-01-01

    In continuous time, diffusion processes have been used for modelling financial dynamics for a long time. For example the Ornstein-Uhlenbeck process (the simplest mean--reverting process) has been used to model non-speculative price processes. We discuss non--parametric estimation of these processes...

  15. A non-parametric method for correction of global radiation observations

    DEFF Research Database (Denmark)

    Bacher, Peder; Madsen, Henrik; Perers, Bengt;

    2013-01-01

    in the observations are corrected. These are errors such as: tilt in the leveling of the sensor, shadowing from surrounding objects, clipping and saturation in the signal processing, and errors from dirt and wear. The method is based on a statistical non-parametric clear-sky model which is applied to both...

  16. Low default credit scoring using two-class non-parametric kernel density estimation

    CSIR Research Space (South Africa)

    Rademeyer, E

    2016-12-01

    Full Text Available This paper investigates the performance of two-class classification credit scoring data sets with low default ratios. The standard two-class parametric Gaussian and non-parametric Parzen classifiers are extended, using Bayes’ rule, to include either...

  17. Measuring the influence of networks on transaction costs using a non-parametric regression technique

    DEFF Research Database (Denmark)

    Henningsen, Géraldine; Henningsen, Arne; Henning, Christian H.C.A.

    . We empirically analyse the effect of networks on productivity using a cross-validated local linear non-parametric regression technique and a data set of 384 farms in Poland. Our empirical study generally supports our hypothesis that networks affect productivity. Large and dense trading networks...

  18. Non-Parametric Estimation of Diffusion-Paths Using Wavelet Scaling Methods

    DEFF Research Database (Denmark)

    Høg, Esben

    2003-01-01

    In continuous time, diffusion processes have been used for modelling financial dynamics for a long time. For example the Ornstein-Uhlenbeck process (the simplest mean--reverting process) has been used to model non-speculative price processes. We discuss non--parametric estimation of these processes...

  19. Non-parametric Estimation of Diffusion-Paths Using Wavelet Scaling Methods

    DEFF Research Database (Denmark)

    Høg, Esben

    In continuous time, diffusion processes have been used for modelling financial dynamics for a long time. For example the Ornstein-Uhlenbeck process (the simplest mean-reverting process) has been used to model non-speculative price processes. We discuss non--parametric estimation of these processes...

  20. ACCURACY ANALYSIS FOR PLANAR LINKAGE WITH MULTIPLE CLEAR-ANCES AT TURNING PAIRS

    Institute of Scientific and Technical Information of China (English)

    ZHANG Guojun; CHENG Qiang; SHAO Xinyu; LI Peigen

    2008-01-01

    Clearance at turning pair has a strong impact on the kinetic accuracy of linkage, but there is short of a generic model to analyze it so far. Clearance error, input error, and manufacturing tolerance of links are taken into consideration as the random variables synthetically. The kinematics and dynamics accuracy analysis models for planar linkages with multiple clearances at joints are built up as well. At last a typical planar linkage is selected for numerical illustration. These models stated in matrix resolve the relativity of output parameter errors of mechanism and therefore are of vital significance for the reliability analysis and synthesis of mechanism with clearances.

  1. Homothetic Efficiency and Test Power: A Non-Parametric Approach

    NARCIS (Netherlands)

    J. Heufer (Jan); P. Hjertstrand (Per)

    2015-01-01

    markdownabstract__Abstract__ We provide a nonparametric revealed preference approach to demand analysis based on homothetic efficiency. Homotheticity is a useful restriction but data rarely satisfies testable conditions. To overcome this we provide a way to estimate homothetic efficiency of consump

  2. Revisiting the Distance Duality Relation using a non-parametric regression method

    Science.gov (United States)

    Rana, Akshay; Jain, Deepak; Mahajan, Shobhit; Mukherjee, Amitabha

    2016-07-01

    The interdependence of luminosity distance, DL and angular diameter distance, DA given by the distance duality relation (DDR) is very significant in observational cosmology. It is very closely tied with the temperature-redshift relation of Cosmic Microwave Background (CMB) radiation. Any deviation from η(z)≡ DL/DA (1+z)2 =1 indicates a possible emergence of new physics. Our aim in this work is to check the consistency of these relations using a non-parametric regression method namely, LOESS with SIMEX. This technique avoids dependency on the cosmological model and works with a minimal set of assumptions. Further, to analyze the efficiency of the methodology, we simulate a dataset of 020 points of η (z) data based on a phenomenological model η(z)= (1+z)epsilon. The error on the simulated data points is obtained by using the temperature of CMB radiation at various redshifts. For testing the distance duality relation, we use the JLA SNe Ia data for luminosity distances, while the angular diameter distances are obtained from radio galaxies datasets. Since the DDR is linked with CMB temperature-redshift relation, therefore we also use the CMB temperature data to reconstruct η (z). It is important to note that with CMB data, we are able to study the evolution of DDR upto a very high redshift z = 2.418. In this analysis, we find no evidence of deviation from η=1 within a 1σ region in the entire redshift range used in this analysis (0 < z <= 2.418).

  3. A non-parametric peak calling algorithm for DamID-Seq.

    Directory of Open Access Journals (Sweden)

    Renhua Li

    Full Text Available Protein-DNA interactions play a significant role in gene regulation and expression. In order to identify transcription factor binding sites (TFBS of double sex (DSX-an important transcription factor in sex determination, we applied the DNA adenine methylation identification (DamID technology to the fat body tissue of Drosophila, followed by deep sequencing (DamID-Seq. One feature of DamID-Seq data is that induced adenine methylation signals are not assured to be symmetrically distributed at TFBS, which renders the existing peak calling algorithms for ChIP-Seq, including SPP and MACS, inappropriate for DamID-Seq data. This challenged us to develop a new algorithm for peak calling. A challenge in peaking calling based on sequence data is estimating the averaged behavior of background signals. We applied a bootstrap resampling method to short sequence reads in the control (Dam only. After data quality check and mapping reads to a reference genome, the peaking calling procedure compromises the following steps: 1 reads resampling; 2 reads scaling (normalization and computing signal-to-noise fold changes; 3 filtering; 4 Calling peaks based on a statistically significant threshold. This is a non-parametric method for peak calling (NPPC. We also used irreproducible discovery rate (IDR analysis, as well as ChIP-Seq data to compare the peaks called by the NPPC. We identified approximately 6,000 peaks for DSX, which point to 1,225 genes related to the fat body tissue difference between female and male Drosophila. Statistical evidence from IDR analysis indicated that these peaks are reproducible across biological replicates. In addition, these peaks are comparable to those identified by use of ChIP-Seq on S2 cells, in terms of peak number, location, and peaks width.

  4. A non-parametric peak calling algorithm for DamID-Seq.

    Science.gov (United States)

    Li, Renhua; Hempel, Leonie U; Jiang, Tingbo

    2015-01-01

    Protein-DNA interactions play a significant role in gene regulation and expression. In order to identify transcription factor binding sites (TFBS) of double sex (DSX)-an important transcription factor in sex determination, we applied the DNA adenine methylation identification (DamID) technology to the fat body tissue of Drosophila, followed by deep sequencing (DamID-Seq). One feature of DamID-Seq data is that induced adenine methylation signals are not assured to be symmetrically distributed at TFBS, which renders the existing peak calling algorithms for ChIP-Seq, including SPP and MACS, inappropriate for DamID-Seq data. This challenged us to develop a new algorithm for peak calling. A challenge in peaking calling based on sequence data is estimating the averaged behavior of background signals. We applied a bootstrap resampling method to short sequence reads in the control (Dam only). After data quality check and mapping reads to a reference genome, the peaking calling procedure compromises the following steps: 1) reads resampling; 2) reads scaling (normalization) and computing signal-to-noise fold changes; 3) filtering; 4) Calling peaks based on a statistically significant threshold. This is a non-parametric method for peak calling (NPPC). We also used irreproducible discovery rate (IDR) analysis, as well as ChIP-Seq data to compare the peaks called by the NPPC. We identified approximately 6,000 peaks for DSX, which point to 1,225 genes related to the fat body tissue difference between female and male Drosophila. Statistical evidence from IDR analysis indicated that these peaks are reproducible across biological replicates. In addition, these peaks are comparable to those identified by use of ChIP-Seq on S2 cells, in terms of peak number, location, and peaks width.

  5. Multivariate Stable Isotope Analysis to Determine Linkages between Benzocaine Seizures

    Science.gov (United States)

    Kemp, H. F.; Meier-Augenstein, W.; Collins, M.; Salouros, H.; Cunningham, A.; Harrison, M.

    2012-04-01

    In July 2010, a woman was jailed for nine years in the UK after the prosecution successfully argued that attempting to import a cutting agent was proof of involvement in a conspiracy to supply Cocaine. That landmark ruling provided law enforcement agencies with much greater scope to tackle those involved in this aspect of the drug trade, specifically targeting those importing the likes of benzocaine or lidocaine. Huge quantities of these compounds are imported into the UK and between May and August 2010, four shipments of Benzocaine amounting to more then 4 tons had been seized as part of Operation Kitley, a joint initiative between the UK Border Agency and the Serious Organised Crime Agency (SOCA). By diluting cocaine, traffickers can make it go a lot further for very little cost, leading to huge profits. In recent years, dealers have moved away from inert substances, like sugar and baby milk powder, in favour of active pharmaceutical ingredients (APIs), including anaesthetics like Benzocaine and Lidocaine. Both these mimic the numbing effect of cocaine, and resemble it closely in colour, texture and some chemical behaviours, making it easier to conceal the fact that the drug has been diluted. API cutting agents have helped traffickers to maintain steady supplies in the face of successful interdiction and even expand the market in the UK, particularly to young people aged from their mid teens to early twenties. From importation to street-level, the purity of the drug can be reduced up to a factor of 80 and street level cocaine can have a cocaine content as low as 1%. In view of the increasing use of Benzocaine as cutting agent for Cocaine, a study was carried out to investigate if 2H, 13C, 15N and 18O stable isotope signatures could be used in conjunction with multivariate chemometric data analysis to determine potential linkage between benzocaine exhibits seized from different locations or individuals to assist with investigation and prosecution of drug

  6. Does sunspot numbers cause global temperatures? A reconsideration using non-parametric causality tests

    Science.gov (United States)

    Hassani, Hossein; Huang, Xu; Gupta, Rangan; Ghodsi, Mansi

    2016-10-01

    In a recent paper, Gupta et al., (2015), analyzed whether sunspot numbers cause global temperatures based on monthly data covering the period 1880:1-2013:9. The authors find that standard time domain Granger causality test fails to reject the null hypothesis that sunspot numbers do not cause global temperatures for both full and sub-samples, namely 1880:1-1936:2, ​1936:3-1986:11 and 1986:12-2013:9 (identified based on tests of structural breaks). However, frequency domain causality test detects predictability for the full-sample at short (2-2.6 months) cycle lengths, but not the sub-samples. But since, full-sample causality cannot be relied upon due to structural breaks, Gupta et al., (2015) conclude that the evidence of causality running from sunspot numbers to global temperatures is weak and inconclusive. Given the importance of the issue of global warming, our current paper aims to revisit this issue of whether sunspot numbers cause global temperatures, using the same data set and sub-samples used by Gupta et al., (2015), based on an nonparametric Singular Spectrum Analysis (SSA)-based causality test. Based on this test, we however, show that sunspot numbers have predictive ability for global temperatures for the three sub-samples, over and above the full-sample. Thus, generally speaking, our non-parametric SSA-based causality test outperformed both time domain and frequency domain causality tests and highlighted that sunspot numbers have always been important in predicting global temperatures.

  7. Bayesian Semi- and Non-Parametric Models for Longitudinal Data with Multiple Membership Effects in R

    Directory of Open Access Journals (Sweden)

    Terrance Savitsky

    2014-03-01

    Full Text Available We introduce growcurves for R that performs analysis of repeated measures multiple membership (MM data. This data structure arises in studies under which an intervention is delivered to each subject through the subjects participation in a set of multiple elements that characterize the intervention. In our motivating study design under which subjects receive a group cognitive behavioral therapy (CBT treatment, an element is a group CBT session and each subject attends multiple sessions that, together, comprise the treatment. The sets of elements, or group CBT sessions, attended by subjects will partly overlap with some of those from other subjects to induce a dependence in their responses. The growcurves package offers two alternative sets of hierarchical models: 1. Separate terms are specified for multivariate subject and MM element random effects, where the subject effects are modeled under a Dirichlet process prior to produce a semi-parametric construction; 2. A single term is employed to model joint subject-by-MM effects. A fully non-parametric dependent Dirichlet process formulation allows exploration of differences in subject responses across different MM elements. This model allows for borrowing information among subjects who express similar longitudinal trajectories for flexible estimation. growcurves deploys estimation functions to perform posterior sampling under a suite of prior options. An accompanying set of plot functions allows the user to readily extract by-subject growth curves. The design approach intends to anticipate inferential goals with tools that fully extract information from repeated measures data. Computational efficiency is achieved by performing the sampling for estimation functions using compiled C++ code.

  8. Population pharmacokinetics of nevirapine in Malaysian HIV patients: a non-parametric approach.

    Science.gov (United States)

    Mustafa, Suzana; Yusuf, Wan Nazirah Wan; Woillard, Jean Baptiste; Choon, Tan Soo; Hassan, Norul Badriah

    2016-07-01

    Nevirapine is the first non-nucleoside reverse-transcriptase inhibitor approved and is widely used in combination therapy to treat HIV-1 infection. The pharmacokinetics of nevirapine was extensively studied in various populations with a parametric approach. Hence, this study was aimed to determine population pharmacokinetic parameters in Malaysian HIV-infected patients with a non-parametric approach which allows detection of outliers or non-normal distribution contrary to the parametric approach. Nevirapine population pharmacokinetics was modelled with Pmetrics. A total of 708 observations from 112 patients were included in the model building and validation analysis. Evaluation of the model was based on a visual inspection of observed versus predicted (population and individual) concentrations and plots weighted residual error versus concentrations. Accuracy and robustness of the model were evaluated by visual predictive check (VPC). The median parameters' estimates obtained from the final model were used to predict individual nevirapine plasma area-under-curve (AUC) in the validation dataset. The Bland-Altman plot was used to compare the AUC predicted with trapezoidal AUC. The median nevirapine clearance was of 2.92 L/h, the median rate of absorption was 2.55/h and the volume of distribution was 78.23 L. Nevirapine pharmacokinetics were best described by one-compartmental with first-order absorption model and a lag-time. Weighted residuals for the model selected were homogenously distributed over the concentration and time range. The developed model adequately estimated AUC. In conclusion, a model to describe the pharmacokinetics of nevirapine was developed. The developed model adequately describes nevirapine population pharmacokinetics in HIV-infected patients in Malaysia.

  9. A Non-Parametric Item Response Theory Evaluation of the CAGE Instrument Among Older Adults.

    Science.gov (United States)

    Abdin, Edimansyah; Sagayadevan, Vathsala; Vaingankar, Janhavi Ajit; Picco, Louisa; Chong, Siow Ann; Subramaniam, Mythily

    2017-08-04

    The validity of the CAGE using item response theory (IRT) has not yet been examined in older adult population. This study aims to investigate the psychometric properties of the CAGE using both non-parametric and parametric IRT models, assess whether there is any differential item functioning (DIF) by age, gender and ethnicity and examine the measurement precision at the cut-off scores. We used data from the Well-being of the Singapore Elderly study to conduct Mokken scaling analysis (MSA), dichotomous Rasch and 2-parameter logistic IRT models. The measurement precision at the cut-off scores were evaluated using classification accuracy (CA) and classification consistency (CC). The MSA showed the overall scalability H index was 0.459, indicating a medium performing instrument. All items were found to be homogenous, measuring the same construct and able to discriminate well between respondents with high levels of the construct and the ones with lower levels. The item discrimination ranged from 1.07 to 6.73 while the item difficulty ranged from 0.33 to 2.80. Significant DIF was found for 2-item across ethnic group. More than 90% (CC and CA ranged from 92.5% to 94.3%) of the respondents were consistently and accurately classified by the CAGE cut-off scores of 2 and 3. The current study provides new evidence on the validity of the CAGE from the IRT perspective. This study provides valuable information of each item in the assessment of the overall severity of alcohol problem and the precision of the cut-off scores in older adult population.

  10. Linkage analysis of quantitative refraction and refractive errors in the Beaver Dam Eye Study.

    Science.gov (United States)

    Klein, Alison P; Duggal, Priya; Lee, Kristine E; Cheng, Ching-Yu; Klein, Ronald; Bailey-Wilson, Joan E; Klein, Barbara E K

    2011-07-13

    Refraction, as measured by spherical equivalent, is the need for an external lens to focus images on the retina. While genetic factors play an important role in the development of refractive errors, few susceptibility genes have been identified. However, several regions of linkage have been reported for myopia (2q, 4q, 7q, 12q, 17q, 18p, 22q, and Xq) and for quantitative refraction (1p, 3q, 4q, 7p, 8p, and 11p). To replicate previously identified linkage peaks and to identify novel loci that influence quantitative refraction and refractive errors, linkage analysis of spherical equivalent, myopia, and hyperopia in the Beaver Dam Eye Study was performed. Nonparametric, sibling-pair, genome-wide linkage analyses of refraction (spherical equivalent adjusted for age, education, and nuclear sclerosis), myopia and hyperopia in 834 sibling pairs within 486 extended pedigrees were performed. Suggestive evidence of linkage was found for hyperopia on chromosome 3, region q26 (empiric P = 5.34 × 10(-4)), a region that had shown significant genome-wide evidence of linkage to refraction and some evidence of linkage to hyperopia. In addition, the analysis replicated previously reported genome-wide significant linkages to 22q11 of adjusted refraction and myopia (empiric P = 4.43 × 10(-3) and 1.48 × 10(-3), respectively) and to 7p15 of refraction (empiric P = 9.43 × 10(-4)). Evidence was also found of linkage to refraction on 7q36 (empiric P = 2.32 × 10(-3)), a region previously linked to high myopia. The findings provide further evidence that genes controlling refractive errors are located on 3q26, 7p15, 7p36, and 22q11.

  11. Meta-analysis of genome-wide linkage studies across autoimmune diseases

    Science.gov (United States)

    Forabosco, Paola; Bouzigon, Emmanuelle; Ng, Mandy Y; Hermanowski, Jane; Fisher, Sheila A; Criswell, Lindsey A; Lewis, Cathryn M

    2009-01-01

    Autoimmune diseases are chronic disorders initiated by a loss of immunologic tolerance to self-antigens. They cluster within families, and patients may be diagnosed with more than one disease, suggesting pleiotropic genes are involved in the aetiology of different diseases. To identify potential loci, which confer susceptibility to autoimmunity independent of disease phenotype, we pooled results from genome-wide linkage studies, using the genome scan meta-analysis method (GSMA). The meta-analysis included 42 independent studies for 11 autoimmune diseases, using 7350 families with 18 291 affected individuals. In addition to the HLA region, which showed highly significant genome-wide evidence for linkage, we obtained suggestive evidence for linkage on chromosome 16, with peak evidence at 10.0–19.8 Mb. This region may harbour a pleiotropic gene (or genes) conferring risk for several diseases, although no such gene has been identified through association studies. We did not identify evidence for linkage at several genes known to confer increased risk to different autoimmune diseases (PTPN22, CTLA4), even in subgroups of diseases consistently found to be associated with these genes. The relative risks conferred by variants in these genes are modest (<1.5 in most cases), and even a large study like this meta-analysis lacks power to detect linkage. This study illustrates the concept that linkage and association studies have power to identify very different types of disease-predisposing variants. PMID:18781189

  12. Non-parametric frontier approach to modelling the relationships among population, GDP, energy consumption and CO{sub 2} emissions

    Energy Technology Data Exchange (ETDEWEB)

    Lozano, Sebastian; Gutierrez, Ester [University of Seville, E.S.I., Department of Industrial Management, Camino de los Descubrimientos, s/n, 41092 Sevilla (Spain)

    2008-07-15

    In this paper, a non-parametric approach based in Data Envelopment Analysis (DEA) is proposed as an alternative to the Kaya identity (a.k.a ImPACT). This Frontier Method identifies and extends existing best practices. Population and GDP are considered as input and output, respectively. Both primary energy consumption and Greenhouse Gas (GHG) emissions are considered as undesirable outputs. Several Linear Programming models are formulated with different aims, namely: (a) determine efficiency levels, (b) estimate maximum GDP compatible with given levels of population, energy intensity and carbonization intensity, and (c) estimate the minimum level of GHG emissions compatible with given levels of population, GDP, energy intensity or carbonization index. The United States of America case is used as illustration of the proposed approach. (author)

  13. The effects of selection on linkage analysis for quantitative traits.

    Science.gov (United States)

    Mackinnon, M J; Georges, M A

    1992-12-01

    The effects of within-sample selection on the outcome of analyses detecting linkage between genetic markers and quantitative traits were studied. It was found that selection by truncation for the trait of interest significantly reduces the differences between marker genotype means thus reducing the power to detect linked quantitative trait loci (QTL). The size of this reduction is a function of proportion selected, the magnitude of the QTL effect, recombination rate between the marker locus and the QTL, and the allele frequency of the QTL. Proportion selected was the most influential of these factors on bias, e.g., for an allele substitution effect of one standard deviation unit, selecting the top 80%, 50% or 20% of the population required 2, 6 or 24 times the number of progeny, respectively, to offset the loss of power caused by this selection. The effect on power was approximately linear with respect to the size of gene effect, almost invariant to recombination rate, and a complex function of QTL allele frequency. It was concluded that experimental samples from animal populations which have been subjected to even minor amounts of selection will be inefficient in yielding information on linkage between markers and loci influencing the quantitative trait under selection.

  14. Non-parametric Bayesian human motion recognition using a single MEMS tri-axial accelerometer.

    Science.gov (United States)

    Ahmed, M Ejaz; Song, Ju Bin

    2012-09-27

    In this paper, we propose a non-parametric clustering method to recognize the number of human motions using features which are obtained from a single microelectromechanical system (MEMS) accelerometer. Since the number of human motions under consideration is not known a priori and because of the unsupervised nature of the proposed technique, there is no need to collect training data for the human motions. The infinite Gaussian mixture model (IGMM) and collapsed Gibbs sampler are adopted to cluster the human motions using extracted features. From the experimental results, we show that the unanticipated human motions are detected and recognized with significant accuracy, as compared with the parametric Fuzzy C-Mean (FCM) technique, the unsupervised K-means algorithm, and the non-parametric mean-shift method.

  15. Non-Parametric Bayesian Human Motion Recognition Using a Single MEMS Tri-Axial Accelerometer

    Directory of Open Access Journals (Sweden)

    M. Ejaz Ahmed

    2012-09-01

    Full Text Available In this paper, we propose a non-parametric clustering method to recognize the number of human motions using features which are obtained from a single microelectromechanical system (MEMS accelerometer. Since the number of human motions under consideration is not known a priori and because of the unsupervised nature of the proposed technique, there is no need to collect training data for the human motions. The infinite Gaussian mixture model (IGMM and collapsed Gibbs sampler are adopted to cluster the human motions using extracted features. From the experimental results, we show that the unanticipated human motions are detected and recognized with significant accuracy, as compared with the parametric Fuzzy C-Mean (FCM technique, the unsupervised K-means algorithm, and the non-parametric mean-shift method.

  16. Non-Parametric Tests of Structure for High Angular Resolution Diffusion Imaging in Q-Space

    CERN Document Server

    Olhede, Sofia C

    2010-01-01

    High angular resolution diffusion imaging data is the observed characteristic function for the local diffusion of water molecules in tissue. This data is used to infer structural information in brain imaging. Non-parametric scalar measures are proposed to summarize such data, and to locally characterize spatial features of the diffusion probability density function (PDF), relying on the geometry of the characteristic function. Summary statistics are defined so that their distributions are, to first order, both independent of nuisance parameters and also analytically tractable. The dominant direction of the diffusion at a spatial location (voxel) is determined, and a new set of axes are introduced in Fourier space. Variation quantified in these axes determines the local spatial properties of the diffusion density. Non-parametric hypothesis tests for determining whether the diffusion is unimodal, isotropic or multi-modal are proposed. More subtle characteristics of white-matter microstructure, such as the degre...

  17. Variable selection in identification of a high dimensional nonlinear non-parametric system

    Institute of Scientific and Technical Information of China (English)

    Er-Wei BAI; Wenxiao ZHAO; Weixing ZHENG

    2015-01-01

    The problem of variable selection in system identification of a high dimensional nonlinear non-parametric system is described. The inherent difficulty, the curse of dimensionality, is introduced. Then its connections to various topics and research areas are briefly discussed, including order determination, pattern recognition, data mining, machine learning, statistical regression and manifold embedding. Finally, some results of variable selection in system identification in the recent literature are presented.

  18. Estimating Financial Risk Measures for Futures Positions:A Non-Parametric Approach

    OpenAIRE

    Cotter, John; dowd, kevin

    2011-01-01

    This paper presents non-parametric estimates of spectral risk measures applied to long and short positions in 5 prominent equity futures contracts. It also compares these to estimates of two popular alternative measures, the Value-at-Risk (VaR) and Expected Shortfall (ES). The spectral risk measures are conditioned on the coefficient of absolute risk aversion, and the latter two are conditioned on the confidence level. Our findings indicate that all risk measures increase dramatically and the...

  19. Measuring the influence of information networks on transaction costs using a non-parametric regression technique

    DEFF Research Database (Denmark)

    Henningsen, Geraldine; Henningsen, Arne; Henning, Christian H. C. A.

    All business transactions as well as achieving innovations take up resources, subsumed under the concept of transaction costs (TAC). One of the major factors in TAC theory is information. Information networks can catalyse the interpersonal information exchange and hence, increase the access to no...... are unveiled by reduced productivity. A cross-validated local linear non-parametric regression shows that good information networks increase the productivity of farms. A bootstrapping procedure confirms that this result is statistically significant....

  20. t-tests, non-parametric tests, and large studies—a paradox of statistical practice?

    Directory of Open Access Journals (Sweden)

    Fagerland Morten W

    2012-06-01

    Full Text Available Abstract Background During the last 30 years, the median sample size of research studies published in high-impact medical journals has increased manyfold, while the use of non-parametric tests has increased at the expense of t-tests. This paper explores this paradoxical practice and illustrates its consequences. Methods A simulation study is used to compare the rejection rates of the Wilcoxon-Mann-Whitney (WMW test and the two-sample t-test for increasing sample size. Samples are drawn from skewed distributions with equal means and medians but with a small difference in spread. A hypothetical case study is used for illustration and motivation. Results The WMW test produces, on average, smaller p-values than the t-test. This discrepancy increases with increasing sample size, skewness, and difference in spread. For heavily skewed data, the proportion of p Conclusions Non-parametric tests are most useful for small studies. Using non-parametric tests in large studies may provide answers to the wrong question, thus confusing readers. For studies with a large sample size, t-tests and their corresponding confidence intervals can and should be used even for heavily skewed data.

  1. Non-parametric foreground subtraction for 21cm epoch of reionization experiments

    CERN Document Server

    Harker, Geraint; Bernardi, Gianni; Brentjens, Michiel A; De Bruyn, A G; Ciardi, Benedetta; Jelic, Vibor; Koopmans, Leon V E; Labropoulos, Panagiotis; Mellema, Garrelt; Offringa, Andre; Pandey, V N; Schaye, Joop; Thomas, Rajat M; Yatawatta, Sarod

    2009-01-01

    An obstacle to the detection of redshifted 21cm emission from the epoch of reionization (EoR) is the presence of foregrounds which exceed the cosmological signal in intensity by orders of magnitude. We argue that in principle it would be better to fit the foregrounds non-parametrically - allowing the data to determine their shape - rather than selecting some functional form in advance and then fitting its parameters. Non-parametric fits often suffer from other problems, however. We discuss these before suggesting a non-parametric method, Wp smoothing, which seems to avoid some of them. After outlining the principles of Wp smoothing we describe an algorithm used to implement it. We then apply Wp smoothing to a synthetic data cube for the LOFAR EoR experiment. The performance of Wp smoothing, measured by the extent to which it is able to recover the variance of the cosmological signal and to which it avoids leakage of power from the foregrounds, is compared to that of a parametric fit, and to another non-parame...

  2. Non-parametric Tuning of PID Controllers A Modified Relay-Feedback-Test Approach

    CERN Document Server

    Boiko, Igor

    2013-01-01

    The relay feedback test (RFT) has become a popular and efficient  tool used in process identification and automatic controller tuning. Non-parametric Tuning of PID Controllers couples new modifications of classical RFT with application-specific optimal tuning rules to form a non-parametric method of test-and-tuning. Test and tuning are coordinated through a set of common parameters so that a PID controller can obtain the desired gain or phase margins in a system exactly, even with unknown process dynamics. The concept of process-specific optimal tuning rules in the nonparametric setup, with corresponding tuning rules for flow, level pressure, and temperature control loops is presented in the text.   Common problems of tuning accuracy based on parametric and non-parametric approaches are addressed. In addition, the text treats the parametric approach to tuning based on the modified RFT approach and the exact model of oscillations in the system under test using the locus of a perturbedrelay system (LPRS) meth...

  3. Estimation of the limit of detection with a bootstrap-derived standard error by a partly non-parametric approach. Application to HPLC drug assays

    DEFF Research Database (Denmark)

    Linnet, Kristian

    2005-01-01

    Bootstrap, HPLC, limit of blank, limit of detection, non-parametric statistics, type I and II errors......Bootstrap, HPLC, limit of blank, limit of detection, non-parametric statistics, type I and II errors...

  4. Non-parametric determination of H and He interstellar fluxes from cosmic-ray data

    Science.gov (United States)

    Ghelfi, A.; Barao, F.; Derome, L.; Maurin, D.

    2016-06-01

    Context. Top-of-atmosphere (TOA) cosmic-ray (CR) fluxes from satellites and balloon-borne experiments are snapshots of the solar activity imprinted on the interstellar (IS) fluxes. Given a series of snapshots, the unknown IS flux shape and the level of modulation (for each snapshot) can be recovered. Aims: We wish (i) to provide the most accurate determination of the IS H and He fluxes from TOA data alone; (ii) to obtain the associated modulation levels (and uncertainties) while fully accounting for the correlations with the IS flux uncertainties; and (iii) to inspect whether the minimal force-field approximation is sufficient to explain all the data at hand. Methods: Using H and He TOA measurements, including the recent high-precision AMS, BESS-Polar, and PAMELA data, we performed a non-parametric fit of the IS fluxes JISH,~He and modulation level φi for each data-taking period. We relied on a Markov chain Monte Carlo (MCMC) engine to extract the probability density function and correlations (hence the credible intervals) of the sought parameters. Results: Although H and He are the most abundant and best measured CR species, several datasets had to be excluded from the analysis because of inconsistencies with other measurements. From the subset of data passing our consistency cut, we provide ready-to-use best-fit and credible intervals for the H and He IS fluxes from MeV/n to PeV/n energy (with a relative precision in the range [ 2-10% ] at 1σ). Given the strong correlation between JIS and φi parameters, the uncertainties on JIS translate into Δφ ≈ ± 30 MV (at 1σ) for all experiments. We also find that the presence of 3He in He data biases φ towards higher φ values by ~30 MV. The force-field approximation, despite its limitation, gives an excellent (χ2/d.o.f. = 1.02) description of the recent high-precision TOA H and He fluxes. Conclusions: The analysis must be extended to different charge species and more realistic modulation models. It would benefit

  5. Evaluation of world's largest social welfare scheme: An assessment using non-parametric approach.

    Science.gov (United States)

    Singh, Sanjeet

    2016-08-01

    Mahatma Gandhi National Rural Employment Guarantee Act (MGNREGA) is the world's largest social welfare scheme in India for the poverty alleviation through rural employment generation. This paper aims to evaluate and rank the performance of the states in India under MGNREGA scheme. A non-parametric approach, Data Envelopment Analysis (DEA) is used to calculate the overall technical, pure technical, and scale efficiencies of states in India. The sample data is drawn from the annual official reports published by the Ministry of Rural Development, Government of India. Based on three selected input parameters (expenditure indicators) and five output parameters (employment generation indicators), I apply both input and output oriented DEA models to estimate how well the states utilize their resources and generate outputs during the financial year 2013-14. The relative performance evaluation has been made under the assumption of constant returns and also under variable returns to scale to assess the impact of scale on performance. The results indicate that the main source of inefficiency is both technical and managerial practices adopted. 11 states are overall technically efficient and operate at the optimum scale whereas 18 states are pure technical or managerially efficient. It has been found that for some states it necessary to alter scheme size to perform at par with the best performing states. For inefficient states optimal input and output targets along with the resource savings and output gains are calculated. Analysis shows that if all inefficient states operate at optimal input and output levels, on an average 17.89% of total expenditure and a total amount of $780million could have been saved in a single year. Most of the inefficient states perform poorly when it comes to the participation of women and disadvantaged sections (SC&ST) in the scheme. In order to catch up with the performance of best performing states, inefficient states on an average need to enhance

  6. Viral Genetic Linkage Analysis in the Presence of Missing Data.

    Directory of Open Access Journals (Sweden)

    Shelley H Liu

    Full Text Available Analyses of viral genetic linkage can provide insight into HIV transmission dynamics and the impact of prevention interventions. For example, such analyses have the potential to determine whether recently-infected individuals have acquired viruses circulating within or outside a given community. In addition, they have the potential to identify characteristics of chronically infected individuals that make their viruses likely to cluster with others circulating within a community. Such clustering can be related to the potential of such individuals to contribute to the spread of the virus, either directly through transmission to their partners or indirectly through further spread of HIV from those partners. Assessment of the extent to which individual (incident or prevalent viruses are clustered within a community will be biased if only a subset of subjects are observed, especially if that subset is not representative of the entire HIV infected population. To address this concern, we develop a multiple imputation framework in which missing sequences are imputed based on a model for the diversification of viral genomes. The imputation method decreases the bias in clustering that arises from informative missingness. Data from a household survey conducted in a village in Botswana are used to illustrate these methods. We demonstrate that the multiple imputation approach reduces bias in the overall proportion of clustering due to the presence of missing observations.

  7. Linkage analysis of quantitative trait loci in the presence of heterogeneity.

    Science.gov (United States)

    Ekstrøm, Claus Thorn; Dalgaard, Peter

    2003-01-01

    Variance component modeling for linkage analysis of quantitative traits is a powerful tool for detecting and locating genes affecting a trait of interest, but the presence of genetic heterogeneity will decrease the power of a linkage study and may even give biased estimates of the location of the quantitative trait loci. Many complex diseases are believed to be influenced by multiple genes and therefore genetic heterogeneity is likely to be present for many real applications of linkage analysis. We consider a mixture of multivariate normals to model locus heterogeneity by allowing only a proportion of the sampled pedigrees to segregate trait-influencing allele(s) at a specific locus. However, for mixtures of normals the classical asymptotic distribution theory of the maximum likelihood estimates does not hold, so tests of linkage and/or heterogeneity are evaluated using resampling methods. It is shown that allowing for genetic heterogeneity leads to an increase in power to detect linkage. This increase is more prominent when the genetic effect of the locus is small or when the percentage of pedigrees not segregating trait-influencing allele(s) at the locus is high.

  8. Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.

    Science.gov (United States)

    Hellwege, Jacklyn N; Palmer, Nicholette D; Raffield, Laura M; Ng, Maggie C Y; Hawkins, Gregory A; Long, Jirong; Lorenzo, Carlos; Norris, Jill M; Ida Chen, Y-D; Speliotes, Elizabeth K; Rotter, Jerome I; Langefeld, Carl D; Wagenknecht, Lynne E; Bowden, Donald W

    2014-05-01

    Linkage analysis of complex traits has had limited success in identifying trait-influencing loci. Recently, coding variants have been implicated as the basis for some biomedical associations. We tested whether coding variants are the basis for linkage peaks of complex traits in 42 African-American (n = 596) and 90 Hispanic (n = 1,414) families in the Insulin Resistance Atherosclerosis Family Study (IRASFS) using Illumina HumanExome Beadchips. A total of 92,157 variants in African Americans (34%) and 81,559 (31%) in Hispanics were polymorphic and tested using two-point linkage and association analyses with 37 cardiometabolic phenotypes. In African Americans 77 LOD scores greater than 3 were observed. The highest LOD score was 4.91 with the APOE SNP rs7412 (MAF = 0.13) with plasma apolipoprotein B (ApoB). This SNP was associated with ApoB (P-value = 4 × 10(-19)) and accounted for 16.2% of the variance in African Americans. In Hispanic families, 104 LOD scores were greater than 3. The strongest evidence of linkage (LOD = 4.29) was with rs5882 (MAF = 0.46) in CETP with HDL. CETP variants were strongly associated with HDL (0.00049 evidence of strong linkage in this genome wide survey of primarily coding variants was uncommon. Loci with strong evidence of linkage was characterized by large contributions to the variance, and, in these cases, are common variants. Less compelling evidence of linkage and association was observed with additional loci that may require larger family sets to confirm. © 2014 WILEY PERIODICALS, INC.

  9. Non-parametric change-point method for differential gene expression detection.

    Directory of Open Access Journals (Sweden)

    Yao Wang

    Full Text Available BACKGROUND: We proposed a non-parametric method, named Non-Parametric Change Point Statistic (NPCPS for short, by using a single equation for detecting differential gene expression (DGE in microarray data. NPCPS is based on the change point theory to provide effective DGE detecting ability. METHODOLOGY: NPCPS used the data distribution of the normal samples as input, and detects DGE in the cancer samples by locating the change point of gene expression profile. An estimate of the change point position generated by NPCPS enables the identification of the samples containing DGE. Monte Carlo simulation and ROC study were applied to examine the detecting accuracy of NPCPS, and the experiment on real microarray data of breast cancer was carried out to compare NPCPS with other methods. CONCLUSIONS: Simulation study indicated that NPCPS was more effective for detecting DGE in cancer subset compared with five parametric methods and one non-parametric method. When there were more than 8 cancer samples containing DGE, the type I error of NPCPS was below 0.01. Experiment results showed both good accuracy and reliability of NPCPS. Out of the 30 top genes ranked by using NPCPS, 16 genes were reported as relevant to cancer. Correlations between the detecting result of NPCPS and the compared methods were less than 0.05, while between the other methods the values were from 0.20 to 0.84. This indicates that NPCPS is working on different features and thus provides DGE identification from a distinct perspective comparing with the other mean or median based methods.

  10. Two new non-parametric tests to the distance duality relation with galaxy clusters

    CERN Document Server

    Costa, S S; Holanda, R F L

    2015-01-01

    The cosmic distance duality relation is a milestone of cosmology involving the luminosity and angular diameter distances. Any departure of the relation points to new physics or systematic errors in the observations, therefore tests of the relation are extremely important to build a consistent cosmological framework. Here, two new tests are proposed based on galaxy clusters observations (angular diameter distance and gas mass fraction) and $H(z)$ measurements. By applying Gaussian Processes, a non-parametric method, we are able to derive constraints on departures of the relation where no evidence of deviation is found in both methods, reinforcing the cosmological and astrophysical hypotheses adopted so far.

  11. The geometry of distributional preferences and a non-parametric identification approach: The Equality Equivalence Test.

    Science.gov (United States)

    Kerschbamer, Rudolf

    2015-05-01

    This paper proposes a geometric delineation of distributional preference types and a non-parametric approach for their identification in a two-person context. It starts with a small set of assumptions on preferences and shows that this set (i) naturally results in a taxonomy of distributional archetypes that nests all empirically relevant types considered in previous work; and (ii) gives rise to a clean experimental identification procedure - the Equality Equivalence Test - that discriminates between archetypes according to core features of preferences rather than properties of specific modeling variants. As a by-product the test yields a two-dimensional index of preference intensity.

  12. Prospective linkages between peer victimization and externalizing problems in children: a meta-analysis.

    Science.gov (United States)

    Reijntjes, Albert; Kamphuis, Jan H; Prinzie, Peter; Boelen, Paul A; van der Schoot, Menno; Telch, Michael J

    2011-01-01

    Previous meta-analytic research has shown both concurrent and prospective linkages between peer victimization and internalizing problems in youth. However, the linkages between peer victimization and externalizing problems over time have not been systematically examined, and it is therefore unknown if externalizing problems are antecedents of victimization, consequences of victimization, both, or neither. This study provides a meta-analysis of 14 longitudinal studies examining prospective linkages between peer victimization and externalizing problems (n = 7,821). Two prospective paths were examined: the extent to which peer victimization at baseline predicts future residualized changes in externalizing problems, as well as the extent to which externalizing problems at baseline predict future residualized changes in peer victimization. Results revealed significant associations between peer victimization and subsequent residualized changes in externalizing problems, as well as significant associations between externalizing problems and subsequent residualized changes in peer victimization. Hence, externalizing problems function as both antecedents and consequences of peer victimization. © 2010 Wiley-Liss, Inc.

  13. Meta-analysis of genome-wide linkage studies in BMI and obesity

    NARCIS (Netherlands)

    Saunders, Catherine L.; Chiodini, Benedetta D.; Sham, Pak; Lewis, Cathryn M.; Abkevich, Victor; Adeyemo, Adebowale A.; de Andrade, Mariza; Arya, Rector; Berenson, Gerald S.; Blangero, John; Boehnke, Michael; Borecki, Ingrid B.; Chagnon, Yvon C.; Chen, Wei; Comuzzie, Anthony G.; Deng, Hong-Wen; Duggirala, Ravindranath; Feitosa, Mary F.; Froguel, Philippe; Hanson, Robert L.; Hebebrand, Johannes; Huezo-Dias, Patricia; Kissebah, Ahmed H.; Li, Weidong; Luke, Amy; Martin, Lisa J.; Nash, Matthew; Ohman, Muena; Palmer, Lyle J.; Peltonen, Leena; Perola, Markus; Price, R. Arlen; Redline, Susan; Srinivasan, Sathanur R.; Stern, Michael P.; Stone, Steven; Stringham, Heather; Turner, Stephen; Wijmenga, Cisca; Collier, David A.

    Objective: The objective was to provide an overall assessment of genetic linkage data of BMI and BMI-defined obesity using a nonparametric genome scan meta-analysis. Research Methods and Procedures: We identified 37 published studies containing data on over 31,000 individuals from more than >10,000

  14. Genome-Wide Association Study and Linkage Analysis of the Healthy Aging Index

    DEFF Research Database (Denmark)

    Minster, Ryan L; Sanders, Jason L; Singh, Jatinder;

    2015-01-01

    BACKGROUND: The Healthy Aging Index (HAI) is a tool for measuring the extent of health and disease across multiple systems. METHODS: We conducted a genome-wide association study and a genome-wide linkage analysis to map quantitative trait loci associated with the HAI and a modified HAI weighted...

  15. Meta-analysis of genome-wide linkage studies in BMI and obesity

    NARCIS (Netherlands)

    Saunders, Catherine L.; Chiodini, Benedetta D.; Sham, Pak; Lewis, Cathryn M.; Abkevich, Victor; Adeyemo, Adebowale A.; de Andrade, Mariza; Arya, Rector; Berenson, Gerald S.; Blangero, John; Boehnke, Michael; Borecki, Ingrid B.; Chagnon, Yvon C.; Chen, Wei; Comuzzie, Anthony G.; Deng, Hong-Wen; Duggirala, Ravindranath; Feitosa, Mary F.; Froguel, Philippe; Hanson, Robert L.; Hebebrand, Johannes; Huezo-Dias, Patricia; Kissebah, Ahmed H.; Li, Weidong; Luke, Amy; Martin, Lisa J.; Nash, Matthew; Ohman, Muena; Palmer, Lyle J.; Peltonen, Leena; Perola, Markus; Price, R. Arlen; Redline, Susan; Srinivasan, Sathanur R.; Stern, Michael P.; Stone, Steven; Stringham, Heather; Turner, Stephen; Wijmenga, Cisca; Collier, David A.

    2007-01-01

    Objective: The objective was to provide an overall assessment of genetic linkage data of BMI and BMI-defined obesity using a nonparametric genome scan meta-analysis. Research Methods and Procedures: We identified 37 published studies containing data on over 31,000 individuals from more than >10,000

  16. VT Wildlife Linkage Habitat

    Data.gov (United States)

    Vermont Center for Geographic Information — (Link to Metadata) The Wildlife Linkage Habitat Analysis uses landscape scale data to identify or predict the location of potentially significant wildlife linkage...

  17. Genome-wide Linkage Disequilibrium Linkage Analysis (LDLA) of Body Fat Traits in an F2 Porcine Model for Human Obesity

    DEFF Research Database (Denmark)

    Pant, Sameer Dinkar; Karlskov-Mortensen, Peter; Cirera Salicio, Susanna;

    , body composition was determined at about two months of age (64 ± 11 days) via dual-energy xray absorptiometry (DXA) scanning. All pigs were genotyped using Illumina Porcine 60k SNP Beadchip and a combined LDLA approach was used to perform genomewide linkage and association analysis for body fat traits...

  18. SwiftLink: parallel MCMC linkage analysis using multicore CPU and GPU.

    Science.gov (United States)

    Medlar, Alan; Głowacka, Dorota; Stanescu, Horia; Bryson, Kevin; Kleta, Robert

    2013-02-15

    Linkage analysis remains an important tool in elucidating the genetic component of disease and has become even more important with the advent of whole exome sequencing, enabling the user to focus on only those genomic regions co-segregating with Mendelian traits. Unfortunately, methods to perform multipoint linkage analysis scale poorly with either the number of markers or with the size of the pedigree. Large pedigrees with many markers can only be evaluated with Markov chain Monte Carlo (MCMC) methods that are slow to converge and, as no attempts have been made to exploit parallelism, massively underuse available processing power. Here, we describe SWIFTLINK, a novel application that performs MCMC linkage analysis by spreading the computational burden between multiple processor cores and a graphics processing unit (GPU) simultaneously. SWIFTLINK was designed around the concept of explicitly matching the characteristics of an algorithm with the underlying computer architecture to maximize performance. We implement our approach using existing Gibbs samplers redesigned for parallel hardware. We applied SWIFTLINK to a real-world dataset, performing parametric multipoint linkage analysis on a highly consanguineous pedigree with EAST syndrome, containing 28 members, where a subset of individuals were genotyped with single nucleotide polymorphisms (SNPs). In our experiments with a four core CPU and GPU, SWIFTLINK achieves a 8.5× speed-up over the single-threaded version and a 109× speed-up over the popular linkage analysis program SIMWALK. SWIFTLINK is available at https://github.com/ajm/swiftlink. All source code is licensed under GPLv3.

  19. A web application for evaluating Phase I methods using a non-parametric optimal benchmark.

    Science.gov (United States)

    Wages, Nolan A; Varhegyi, Nikole

    2017-06-01

    In evaluating the performance of Phase I dose-finding designs, simulation studies are typically conducted to assess how often a method correctly selects the true maximum tolerated dose under a set of assumed dose-toxicity curves. A necessary component of the evaluation process is to have some concept for how well a design can possibly perform. The notion of an upper bound on the accuracy of maximum tolerated dose selection is often omitted from the simulation study, and the aim of this work is to provide researchers with accessible software to quickly evaluate the operating characteristics of Phase I methods using a benchmark. The non-parametric optimal benchmark is a useful theoretical tool for simulations that can serve as an upper limit for the accuracy of maximum tolerated dose identification based on a binary toxicity endpoint. It offers researchers a sense of the plausibility of a Phase I method's operating characteristics in simulation. We have developed an R shiny web application for simulating the benchmark. The web application has the ability to quickly provide simulation results for the benchmark and requires no programming knowledge. The application is free to access and use on any device with an Internet browser. The application provides the percentage of correct selection of the maximum tolerated dose and an accuracy index, operating characteristics typically used in evaluating the accuracy of dose-finding designs. We hope this software will facilitate the use of the non-parametric optimal benchmark as an evaluation tool in dose-finding simulation.

  20. Application of the LSQR algorithm in non-parametric estimation of aerosol size distribution

    Science.gov (United States)

    He, Zhenzong; Qi, Hong; Lew, Zhongyuan; Ruan, Liming; Tan, Heping; Luo, Kun

    2016-05-01

    Based on the Least Squares QR decomposition (LSQR) algorithm, the aerosol size distribution (ASD) is retrieved in non-parametric approach. The direct problem is solved by the Anomalous Diffraction Approximation (ADA) and the Lambert-Beer Law. An optimal wavelength selection method is developed to improve the retrieval accuracy of the ASD. The proposed optimal wavelength set is selected by the method which can make the measurement signals sensitive to wavelength and decrease the degree of the ill-condition of coefficient matrix of linear systems effectively to enhance the anti-interference ability of retrieval results. Two common kinds of monomodal and bimodal ASDs, log-normal (L-N) and Gamma distributions, are estimated, respectively. Numerical tests show that the LSQR algorithm can be successfully applied to retrieve the ASD with high stability in the presence of random noise and low susceptibility to the shape of distributions. Finally, the experimental measurement ASD over Harbin in China is recovered reasonably. All the results confirm that the LSQR algorithm combined with the optimal wavelength selection method is an effective and reliable technique in non-parametric estimation of ASD.

  1. Non-parametric transformation for data correlation and integration: From theory to practice

    Energy Technology Data Exchange (ETDEWEB)

    Datta-Gupta, A.; Xue, Guoping; Lee, Sang Heon [Texas A& M Univ., College Station, TX (United States)

    1997-08-01

    The purpose of this paper is two-fold. First, we introduce the use of non-parametric transformations for correlating petrophysical data during reservoir characterization. Such transformations are completely data driven and do not require a priori functional relationship between response and predictor variables which is the case with traditional multiple regression. The transformations are very general, computationally efficient and can easily handle mixed data types for example, continuous variables such as porosity, permeability and categorical variables such as rock type, lithofacies. The power of the non-parametric transformation techniques for data correlation has been illustrated through synthetic and field examples. Second, we utilize these transformations to propose a two-stage approach for data integration during heterogeneity characterization. The principal advantages of our approach over traditional cokriging or cosimulation methods are: (1) it does not require a linear relationship between primary and secondary data, (2) it exploits the secondary information to its fullest potential by maximizing the correlation between the primary and secondary data, (3) it can be easily applied to cases where several types of secondary or soft data are involved, and (4) it significantly reduces variance function calculations and thus, greatly facilitates non-Gaussian cosimulation. We demonstrate the data integration procedure using synthetic and field examples. The field example involves estimation of pore-footage distribution using well data and multiple seismic attributes.

  2. A non-parametric approach to estimate the total deviation index for non-normal data.

    Science.gov (United States)

    Perez-Jaume, Sara; Carrasco, Josep L

    2015-11-10

    Concordance indices are used to assess the degree of agreement between different methods that measure the same characteristic. In this context, the total deviation index (TDI) is an unscaled concordance measure that quantifies to which extent the readings from the same subject obtained by different methods may differ with a certain probability. Common approaches to estimate the TDI assume data are normally distributed and linearity between response and effects (subjects, methods and random error). Here, we introduce a new non-parametric methodology for estimation and inference of the TDI that can deal with any kind of quantitative data. The present study introduces this non-parametric approach and compares it with the already established methods in two real case examples that represent situations of non-normal data (more specifically, skewed data and count data). The performance of the already established methodologies and our approach in these contexts is assessed by means of a simulation study. Copyright © 2015 John Wiley & Sons, Ltd.

  3. A non-parametric Bayesian approach for clustering and tracking non-stationarities of neural spikes.

    Science.gov (United States)

    Shalchyan, Vahid; Farina, Dario

    2014-02-15

    Neural spikes from multiple neurons recorded in a multi-unit signal are usually separated by clustering. Drifts in the position of the recording electrode relative to the neurons over time cause gradual changes in the position and shapes of the clusters, challenging the clustering task. By dividing the data into short time intervals, Bayesian tracking of the clusters based on Gaussian cluster model has been previously proposed. However, the Gaussian cluster model is often not verified for neural spikes. We present a Bayesian clustering approach that makes no assumptions on the distribution of the clusters and use kernel-based density estimation of the clusters in every time interval as a prior for Bayesian classification of the data in the subsequent time interval. The proposed method was tested and compared to Gaussian model-based approach for cluster tracking by using both simulated and experimental datasets. The results showed that the proposed non-parametric kernel-based density estimation of the clusters outperformed the sequential Gaussian model fitting in both simulated and experimental data tests. Using non-parametric kernel density-based clustering that makes no assumptions on the distribution of the clusters enhances the ability of tracking cluster non-stationarity over time with respect to the Gaussian cluster modeling approach. Copyright © 2013 Elsevier B.V. All rights reserved.

  4. Non-parametric iterative model constraint graph min-cut for automatic kidney segmentation.

    Science.gov (United States)

    Freiman, M; Kronman, A; Esses, S J; Joskowicz, L; Sosna, J

    2010-01-01

    We present a new non-parametric model constraint graph min-cut algorithm for automatic kidney segmentation in CT images. The segmentation is formulated as a maximum a-posteriori estimation of a model-driven Markov random field. A non-parametric hybrid shape and intensity model is treated as a latent variable in the energy functional. The latent model and labeling map that minimize the energy functional are then simultaneously computed with an expectation maximization approach. The main advantages of our method are that it does not assume a fixed parametric prior model, which is subjective to inter-patient variability and registration errors, and that it combines both the model and the image information into a unified graph min-cut based segmentation framework. We evaluated our method on 20 kidneys from 10 CT datasets with and without contrast agent for which ground-truth segmentations were generated by averaging three manual segmentations. Our method yields an average volumetric overlap error of 10.95%, and average symmetric surface distance of 0.79 mm. These results indicate that our method is accurate and robust for kidney segmentation.

  5. MEASURING DARK MATTER PROFILES NON-PARAMETRICALLY IN DWARF SPHEROIDALS: AN APPLICATION TO DRACO

    Energy Technology Data Exchange (ETDEWEB)

    Jardel, John R.; Gebhardt, Karl [Department of Astronomy, The University of Texas, 2515 Speedway, Stop C1400, Austin, TX 78712-1205 (United States); Fabricius, Maximilian H.; Williams, Michael J. [Max-Planck Institut fuer extraterrestrische Physik, Giessenbachstrasse, D-85741 Garching bei Muenchen (Germany); Drory, Niv, E-mail: jardel@astro.as.utexas.edu [Instituto de Astronomia, Universidad Nacional Autonoma de Mexico, Avenida Universidad 3000, Ciudad Universitaria, C.P. 04510 Mexico D.F. (Mexico)

    2013-02-15

    We introduce a novel implementation of orbit-based (or Schwarzschild) modeling that allows dark matter density profiles to be calculated non-parametrically in nearby galaxies. Our models require no assumptions to be made about velocity anisotropy or the dark matter profile. The technique can be applied to any dispersion-supported stellar system, and we demonstrate its use by studying the Local Group dwarf spheroidal galaxy (dSph) Draco. We use existing kinematic data at larger radii and also present 12 new radial velocities within the central 13 pc obtained with the VIRUS-W integral field spectrograph on the 2.7 m telescope at McDonald Observatory. Our non-parametric Schwarzschild models find strong evidence that the dark matter profile in Draco is cuspy for 20 {<=} r {<=} 700 pc. The profile for r {>=} 20 pc is well fit by a power law with slope {alpha} = -1.0 {+-} 0.2, consistent with predictions from cold dark matter simulations. Our models confirm that, despite its low baryon content relative to other dSphs, Draco lives in a massive halo.

  6. A Bayesian non-parametric Potts model with application to pre-surgical FMRI data.

    Science.gov (United States)

    Johnson, Timothy D; Liu, Zhuqing; Bartsch, Andreas J; Nichols, Thomas E

    2013-08-01

    The Potts model has enjoyed much success as a prior model for image segmentation. Given the individual classes in the model, the data are typically modeled as Gaussian random variates or as random variates from some other parametric distribution. In this article, we present a non-parametric Potts model and apply it to a functional magnetic resonance imaging study for the pre-surgical assessment of peritumoral brain activation. In our model, we assume that the Z-score image from a patient can be segmented into activated, deactivated, and null classes, or states. Conditional on the class, or state, the Z-scores are assumed to come from some generic distribution which we model non-parametrically using a mixture of Dirichlet process priors within the Bayesian framework. The posterior distribution of the model parameters is estimated with a Markov chain Monte Carlo algorithm, and Bayesian decision theory is used to make the final classifications. Our Potts prior model includes two parameters, the standard spatial regularization parameter and a parameter that can be interpreted as the a priori probability that each voxel belongs to the null, or background state, conditional on the lack of spatial regularization. We assume that both of these parameters are unknown, and jointly estimate them along with other model parameters. We show through simulation studies that our model performs on par, in terms of posterior expected loss, with parametric Potts models when the parametric model is correctly specified and outperforms parametric models when the parametric model in misspecified.

  7. Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease.

    Science.gov (United States)

    Silverman, Edwin K; Palmer, Lyle J; Mosley, Jonathan D; Barth, Matthew; Senter, Jody M; Brown, Alison; Drazen, Jeffrey M; Kwiatkowski, David J; Chapman, Harold A; Campbell, Edward J; Province, Michael A; Rao, D C; Reilly, John J; Ginns, Leo C; Speizer, Frank E; Weiss, Scott T

    2002-05-01

    Chronic obstructive pulmonary disease (COPD) is a common, complex disease associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction; airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC). To identify genetic determinants of quantitative spirometric phenotypes, an autosomal 10-cM genomewide scan of short tandem repeat (STR) polymorphic markers was performed in 72 pedigrees (585 individuals) ascertained through probands with severe early-onset COPD. Multipoint variance-component linkage analysis (using SOLAR) was performed for quantitative phenotypes, including FEV(1), FVC, and FEV(1)/FVC. In the initial genomewide scan, significant evidence for linkage to FEV(1)/FVC was demonstrated on chromosome 2q (LOD score 4.12 at 222 cM). Suggestive evidence was found for linkage to FEV(1)/FVC on chromosomes 1 (LOD score 1.92 at 120 cM) and 17 (LOD score 2.03 at 67 cM) and to FVC on chromosome 1 (LOD score 2.05 at 13 cM). The highest LOD score for FEV(1) in the initial genomewide scan was 1.53, on chromosome 12, at 36 cM. After inclusion of 12 additional STR markers on chromosome 12p, which had been previously genotyped in this population, suggestive evidence for linkage of FEV(1) (LOD score 2.43 at 37 cM) to this region was demonstrated. These observations provide both significant evidence for an early-onset COPD-susceptibility locus on chromosome 2 and suggestive evidence for linkage of spirometry-related phenotypes to several other genomic regions. The significant linkage of FEV(1)/FVC to chromosome 2q could reflect one or more genes influencing the development of airflow obstruction or dysanapsis.

  8. Linkage analysis by two-dimensional DNA typing

    NARCIS (Netherlands)

    te Meerman, G J; Mullaart, E; van der Meulen, M A; den Daas, J H; Morolli, B; Uitterlinden, A G; Vijg, J

    1993-01-01

    In two-dimensional (2-D) DNA typing, genomic DNA fragments are separated, first according to size by electrophoresis in a neutral polyacrylamide gel and second according to sequence by denaturing gradient gel electrophoresis, followed by hybridization analysis using micro- and minisatellite core pro

  9. Multipoint linkage analysis in X-linked Alport syndrome

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Kruse, T A; Thomsen, A

    1991-01-01

    In order to localize the gene for the X-linked form of Alport syndrome (ATS) more precisely, we performed restriction fragment length polymorphism analysis with nine different X-chromosomal DNA markers in 107 members of twelve Danish families segregating for classic ATS or progressive hereditary ...

  10. Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Gasser Thomas

    2007-07-01

    Full Text Available Abstract Background Genome wide linkage scans have often been successful in the identification of genetic regions containing susceptibility genes for a disease. Meta analysis is used to synthesize information and can even deliver evidence for findings missed by original studies. If researchers are not contributing their data, extracting valid information from publications is technically challenging, but worth the effort. We propose an approach to include data extracted from published figures of genome wide linkage scans. The validity of the extraction was examined on the basis of those 25 markers, for which sufficient information was reported. Monte Carlo simulations were used to take into account the uncertainty in marker position and in linkage test statistic. For the final meta analysis we compared the Genome Search Meta Analysis method (GSMA and the Corrected p-value Meta analysis Method (CPMM. An application to Parkinson's disease is given. Because we had to use secondary data a meta analysis based on original summary values would be desirable. Results Data uncertainty by replicated extraction of marker position is shown to be much smaller than 30 cM, a distance up to which a maximum LOD score may usually be found away from the true locus. The main findings are not impaired by data uncertainty. Conclusion Applying the proposed method a novel linked region for Parkinson's disease was identified on chromosome 14 (p = 0.036. Comparing the two meta analysis methods we found in this analysis more regions of interest being identified by GSMA, whereas CPMM provides stronger evidence for linkage. For further validation of the extraction method comparisons with raw data would be required.

  11. Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson's disease

    Science.gov (United States)

    Rosenberger, Albert; Sharma, Manu; Müller-Myhsok, Bertram; Gasser, Thomas; Bickeböller, Heike

    2007-01-01

    Background Genome wide linkage scans have often been successful in the identification of genetic regions containing susceptibility genes for a disease. Meta analysis is used to synthesize information and can even deliver evidence for findings missed by original studies. If researchers are not contributing their data, extracting valid information from publications is technically challenging, but worth the effort. We propose an approach to include data extracted from published figures of genome wide linkage scans. The validity of the extraction was examined on the basis of those 25 markers, for which sufficient information was reported. Monte Carlo simulations were used to take into account the uncertainty in marker position and in linkage test statistic. For the final meta analysis we compared the Genome Search Meta Analysis method (GSMA) and the Corrected p-value Meta analysis Method (CPMM). An application to Parkinson's disease is given. Because we had to use secondary data a meta analysis based on original summary values would be desirable. Results Data uncertainty by replicated extraction of marker position is shown to be much smaller than 30 cM, a distance up to which a maximum LOD score may usually be found away from the true locus. The main findings are not impaired by data uncertainty. Conclusion Applying the proposed method a novel linked region for Parkinson's disease was identified on chromosome 14 (p = 0.036). Comparing the two meta analysis methods we found in this analysis more regions of interest being identified by GSMA, whereas CPMM provides stronger evidence for linkage. For further validation of the extraction method comparisons with raw data would be required. PMID:17605797

  12. Cliff´s Delta Calculator: A non-parametric effect size program for two groups of observations

    Directory of Open Access Journals (Sweden)

    Guillermo Macbeth

    2011-05-01

    Full Text Available The Cliff´s Delta statistic is an effect size measure that quantifies the amount of difference between two non-parametric variables beyond p-values interpretation. This measure can be understood as a useful complementary analysis for the corresponding hypothesis testing. During the last two decades the use of effect size measures has been strongly encouraged by methodologists and leading institutions of behavioral sciences. The aim of this contribution is to introduce the Cliff´s Delta Calculator software that performs such analysis and offers some interpretation tips. Differences and similarities with the parametric case are analysed and illustrated. The implementation of this free program is fully described and compared with other calculators. Alternative algorithmic approaches are mathematically analysed and a basic linear algebra proof of its equivalence is formally presented. Two worked examples in cognitive psychology are commented. A visual interpretation of Cliff´s Delta is suggested. Availability, installation and applications of the program are presented and discussed.

  13. CAUSALITY BETWEEN GDP, ENERGY AND COAL CONSUMPTION IN INDIA, 1970-2011: A NON-PARAMETRIC BOOTSTRAP APPROACH

    Directory of Open Access Journals (Sweden)

    Rohin Anhal

    2013-10-01

    Full Text Available The aim of this paper is to examine the direction of causality between real GDP on the one hand and final energy and coal consumption on the other in India, for the period from 1970 to 2011. The methodology adopted is the non-parametric bootstrap procedure, which is used to construct the critical values for the hypothesis of causality. The results of the bootstrap tests show that for total energy consumption, there exists no causal relationship in either direction with GDP of India. However, if coal consumption is considered, we find evidence in support of unidirectional causality running from coal consumption to GDP. This clearly has important implications for the Indian economy. The most important implication is that curbing coal consumption in order to reduce carbon emissions would in turn have a limiting effect on economic growth. Our analysis contributes to the literature in three distinct ways. First, this is the first paper to use the bootstrap method to examine the growth-energy connection for the Indian economy. Second, we analyze data for the time period 1970 to 2011, thereby utilizing recently available data that has not been used by others. Finally, in contrast to the recently done studies, we adopt a disaggregated approach for the analysis of the growth-energy nexus by considering not only aggregate energy consumption, but coal consumption as well.

  14. Bivariate linkage analysis of the insulin resistance syndrome phenotypes on chromosome 7q.

    Science.gov (United States)

    Lehman, Donna M; Arya, Rector; Blangero, John; Almasy, Laura; Puppala, Sobha; Dyer, Thomas D; Leach, Robin J; O'Connell, Peter; Stern, Michael P; Duggirala, Ravindranath

    2005-04-01

    Metabolic abnormalities of the insulin resistance syndrome (IRS) have been shown to aggregate in families and to exhibit trait-pair correlations, suggesting a common genetic component. A broad region on chromosome 7q has been implicated in several studies to contain loci that cosegregate with IRS-related traits. However, it is not clear whether such loci have any common genetic (pleiotropic) influences on the correlated traits. Also, it is not clear whether the chromosomal regions contain more than one locus influencing the IRS-related phenotypes. In this study we present evidence for linkage of five IRS-related traits [body mass index (BMI), waist circumference (WC), In split proinsulin (LSPI), In triglycerides (LTG), and high-density lipoprotein cholesterol (HDLC)] to a region at 7q11.23. Subsequently, to gain further insight into the genetic component(s) mapping to this region, we explored whether linkage of these traits is due to pleiotropic effects using a bivariate linkage analytical technique, which has been shown to localize susceptibility regions with precision. Four hundred forty individuals from 27 Mexican American families living in Texas were genotyped for 19 highly polymorphic markers on chromosome 7. Multipoint variance component linkage analysis was used to identify genetic location(s) influencing IRS-related traits of obesity (BMI and WC), dyslipidemia (LTG and HDLC), and insulin levels (LSPI); the analysis identified a broad chromosomal region spanning approximately 24 cM. To gain more precision in localization, we used a bivariate linkage approach for each trait pair. These analyses suggest localization of most of these bivariate traits to an approximately 6-cM region near marker D7S653 [7q11.23, 103-109 cM; a maximum bivariate LOD of 4.51 was found for the trait pair HDLC and LSPI (the LODeq score is 3.94)]. We observed evidence of pleiotropic effects in this region on obesity and insulin-related trait pairs.

  15. Linkages and Interactions Analysis of Major Effect Drought Grain Yield QTLs in Rice.

    Directory of Open Access Journals (Sweden)

    Prashant Vikram

    Full Text Available Quantitative trait loci conferring high grain yield under drought in rice are important genomic resources for climate resilient breeding. Major and consistent drought grain yield QTLs usually co-locate with flowering and/or plant height QTLs, which could be due to either linkage or pleiotropy. Five mapping populations used for the identification of major and consistent drought grain yield QTLs underwent multiple-trait, multiple-interval mapping test (MT-MIM to estimate the significance of pleiotropy effects. Results indicated towards possible linkages between the drought grain yield QTLs with co-locating flowering and/or plant height QTLs. Linkages of days to flowering and plant height were eliminated through a marker-assisted breeding approach. Drought grain yield QTLs also showed interaction effects with flowering QTLs. Drought responsiveness of the flowering locus on chromosome 3 (qDTY3.2 has been revealed through allelic analysis. Considering linkage and interaction effects associated with drought QTLs, a comprehensive marker-assisted breeding strategy was followed to develop rice genotypes with improved grain yield under drought stress.

  16. Genetic mapping of X-linked ocular albinism: Linkage analysis in a large Newfoundland kindred

    Energy Technology Data Exchange (ETDEWEB)

    Charles, S.J.; Moore, A.T.; Barton, D.E.; Yates, J.R.W. (Addenbrooke' s Hospital, Cambridge (United Kingdom)); Green, J.S. (Memorial Univ. of Newfoundland, St. John' s (Canada))

    1993-04-01

    Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22.3. One recombinant mapped the disease proximal to DXS143 (dic56) and two recombinants mapped the disease distal to DXS85 (782). Combining the data with that from 16 British families previously published confirmed close linkage between OA1 and DXS143 (dic56; Z[sub max] = 21.96 at [theta] = 0.01, confidence interval (CI) 0.0005--0.05) and linkage to DXS85 (782; Z[sub max] = 17.60 at [theta] = 0.07, CI = 0.03--0.13) and DXS237 (GMGX9; Z[sub max] = 15.20 at [theta] = 0.08, CI = 0.03--0.15). Multipoint analysis (LINKMAP) gave the most likely order as Xpter-XG-DXS237-DXS143-OA1-DXS85, with odds of 48:1 over the order Xpter-XG-DXS237-OA1-DXS143-DXS85, and odds exceeding 10[sup 10]:1 over other locations for the disease locus. 11 refs., 1 fig., 1 tab.

  17. QTL linkage analysis of connected populations using ancestral marker and pedigree information.

    Science.gov (United States)

    Bink, Marco C A M; Totir, L Radu; ter Braak, Cajo J F; Winkler, Christopher R; Boer, Martin P; Smith, Oscar S

    2012-04-01

    The common assumption in quantitative trait locus (QTL) linkage mapping studies that parents of multiple connected populations are unrelated is unrealistic for many plant breeding programs. We remove this assumption and propose a Bayesian approach that clusters the alleles of the parents of the current mapping populations from locus-specific identity by descent (IBD) matrices that capture ancestral marker and pedigree information. Moreover, we demonstrate how the parental IBD data can be incorporated into a QTL linkage analysis framework by using two approaches: a Threshold IBD model (TIBD) and a Latent Ancestral Allele Model (LAAM). The TIBD and LAAM models are empirically tested via numerical simulation based on the structure of a commercial maize breeding program. The simulations included a pilot dataset with closely linked QTL on a single linkage group and 100 replicated datasets with five linkage groups harboring four unlinked QTL. The simulation results show that including parental IBD data (similarly for TIBD and LAAM) significantly improves the power and particularly accuracy of QTL mapping, e.g., position, effect size and individuals' genotype probability without significantly increasing computational demand.

  18. Saturation of an intra-gene pool linkage map: towards a unified consensus linkage map for fine mapping and synteny analysis in common bean.

    Science.gov (United States)

    Galeano, Carlos H; Fernandez, Andrea C; Franco-Herrera, Natalia; Cichy, Karen A; McClean, Phillip E; Vanderleyden, Jos; Blair, Matthew W

    2011-01-01

    Map-based cloning and fine mapping to find genes of interest and marker assisted selection (MAS) requires good genetic maps with reproducible markers. In this study, we saturated the linkage map of the intra-gene pool population of common bean DOR364 × BAT477 (DB) by evaluating 2,706 molecular markers including SSR, SNP, and gene-based markers. On average the polymorphism rate was 7.7% due to the narrow genetic base between the parents. The DB linkage map consisted of 291 markers with a total map length of 1,788 cM. A consensus map was built using the core mapping populations derived from inter-gene pool crosses: DOR364 × G19833 (DG) and BAT93 × JALO EEP558 (BJ). The consensus map consisted of a total of 1,010 markers mapped, with a total map length of 2,041 cM across 11 linkage groups. On average, each linkage group on the consensus map contained 91 markers of which 83% were single copy markers. Finally, a synteny analysis was carried out using our highly saturated consensus maps compared with the soybean pseudo-chromosome assembly. A total of 772 marker sequences were compared with the soybean genome. A total of 44 syntenic blocks were identified. The linkage group Pv6 presented the most diverse pattern of synteny with seven syntenic blocks, and Pv9 showed the most consistent relations with soybean with just two syntenic blocks. Additionally, a co-linear analysis using common bean transcript map information against soybean coding sequences (CDS) revealed the relationship with 787 soybean genes. The common bean consensus map has allowed us to map a larger number of markers, to obtain a more complete coverage of the common bean genome. Our results, combined with synteny relationships provide tools to increase marker density in selected genomic regions to identify closely linked polymorphic markers for indirect selection, fine mapping or for positional cloning.

  19. Rural-urban Migration and Dynamics of Income Distribution in China: A Non-parametric Approach%Rural-urban Migration and Dynamics of Income Distribution in China: A Non-parametric Approach

    Institute of Scientific and Technical Information of China (English)

    Yong Liu,; Wei Zou

    2011-01-01

    Extending the income dynamics approach in Quah (2003), the present paper studies the enlarging income inequality in China over the past three decades from the viewpoint of rural-urban migration and economic transition. We establish non-parametric estimations of rural and urban income distribution functions in China, and aggregate a population- weighted, nationwide income distribution function taking into account rural-urban differences in technological progress and price indexes. We calculate 12 inequality indexes through non-parametric estimation to overcome the biases in existingparametric estimation and, therefore, provide more accurate measurement of income inequalitY. Policy implications have been drawn based on our research.

  20. Linkage analysis of five Chinese families with arrhythmogenic right ventricular cardiomyopathy using microsatellite genetic markers

    Institute of Scientific and Technical Information of China (English)

    黄峻; 杨春梅; 马立隽; 单其俊; 许迪; 华子春; 曹克将

    2003-01-01

    Objective To explore the linkage relationship between specific genetic markers and arrhythmogenic right ventricular cardiomyopathy (ARVC) in Chinese pedigrees.Methods The microsatellite genetic markers D2S152, D14S252, and D10S1664 were studied for their linkages to ARVC in five Chinese ARVC pedigrees and a normal population of 121 Chinese individuals. Genomic DNA of the pedigrees and normal population was amplified using PCR techniques. Denaturing polyacrylamide sequencing gel (4%) electrophoresis was used to detect microsatellite repeat polymorphisms. Gels were silver-stained. A classical linkage analysis program was used assuming models of autosomal dominance and recession. Results The logarithm of the odds (LOD) scores of D2S152 with ARVC in LW, WD, DS, LC and TY pedigrees were 2.174, -0.589, -∞, - (indicating that linkage is not supported in this mode), and -∞ respectively in autosomal dominant model (recombination fraction=0.000 respectively)and were -∞, -∞, -∞, -∞, and 0.182 respectively in the autosomal recessive model. The LOD scores of D14S252 with ARVC in LW, WD, DS, LC and TY pedigrees were -, -, -∞, -, and 0 respectively in autosomal dominant model, and were -∞, -0.812, -∞, -∞, and 0.087 respectively in autosomal recessive model. The LOD scores of D2S152 with ARVC in LW, WD, DS, LC and TY pedigrees were -, -0.539, -, and 0.602 respectively in autosomal dominant model and were -, -∞, -∞, -∞, and -∞ respectively in autosomal recessive model. Conclusions The LOD score for D2S152 in the LW pedigree was 2.174, indicating that the chance of linkage is about 150∶ 1. This suggests that there is a possible ARVC-related gene near this marker. There were no clear linkage relationships between ARVC and D10S1664 and D14S252 in this family, and no linkages between ARVC and any of the three genetic markers in the other four families. These results also suggest that there is genetic heterogeneity in LW and in the other pedigrees.

  1. Spatial Modeling of Rainfall Patterns over the Ebro River Basin Using Multifractality and Non-Parametric Statistical Techniques

    Directory of Open Access Journals (Sweden)

    José L. Valencia

    2015-11-01

    Full Text Available Rainfall, one of the most important climate variables, is commonly studied due to its great heterogeneity, which occasionally causes negative economic, social, and environmental consequences. Modeling the spatial distributions of rainfall patterns over watersheds has become a major challenge for water resources management. Multifractal analysis can be used to reproduce the scale invariance and intermittency of rainfall processes. To identify which factors are the most influential on the variability of multifractal parameters and, consequently, on the spatial distribution of rainfall patterns for different time scales in this study, universal multifractal (UM analysis—C1, α, and γs UM parameters—was combined with non-parametric statistical techniques that allow spatial-temporal comparisons of distributions by gradients. The proposed combined approach was applied to a daily rainfall dataset of 132 time-series from 1931 to 2009, homogeneously spatially-distributed across a 25 km × 25 km grid covering the Ebro River Basin. A homogeneous increase in C1 over the watershed and a decrease in α mainly in the western regions, were detected, suggesting an increase in the frequency of dry periods at different scales and an increase in the occurrence of rainfall process variability over the last decades.

  2. Assessing T cell clonal size distribution: a non-parametric approach.

    Science.gov (United States)

    Bolkhovskaya, Olesya V; Zorin, Daniil Yu; Ivanchenko, Mikhail V

    2014-01-01

    Clonal structure of the human peripheral T-cell repertoire is shaped by a number of homeostatic mechanisms, including antigen presentation, cytokine and cell regulation. Its accurate tuning leads to a remarkable ability to combat pathogens in all their variety, while systemic failures may lead to severe consequences like autoimmune diseases. Here we develop and make use of a non-parametric statistical approach to assess T cell clonal size distributions from recent next generation sequencing data. For 41 healthy individuals and a patient with ankylosing spondylitis, who undergone treatment, we invariably find power law scaling over several decades and for the first time calculate quantitatively meaningful values of decay exponent. It has proved to be much the same among healthy donors, significantly different for an autoimmune patient before the therapy, and converging towards a typical value afterwards. We discuss implications of the findings for theoretical understanding and mathematical modeling of adaptive immunity.

  3. Assessing T cell clonal size distribution: a non-parametric approach.

    Directory of Open Access Journals (Sweden)

    Olesya V Bolkhovskaya

    Full Text Available Clonal structure of the human peripheral T-cell repertoire is shaped by a number of homeostatic mechanisms, including antigen presentation, cytokine and cell regulation. Its accurate tuning leads to a remarkable ability to combat pathogens in all their variety, while systemic failures may lead to severe consequences like autoimmune diseases. Here we develop and make use of a non-parametric statistical approach to assess T cell clonal size distributions from recent next generation sequencing data. For 41 healthy individuals and a patient with ankylosing spondylitis, who undergone treatment, we invariably find power law scaling over several decades and for the first time calculate quantitatively meaningful values of decay exponent. It has proved to be much the same among healthy donors, significantly different for an autoimmune patient before the therapy, and converging towards a typical value afterwards. We discuss implications of the findings for theoretical understanding and mathematical modeling of adaptive immunity.

  4. A non-parametric method for correction of global radiation observations

    DEFF Research Database (Denmark)

    Bacher, Peder; Madsen, Henrik; Perers, Bengt;

    2013-01-01

    This paper presents a method for correction and alignment of global radiation observations based on information obtained from calculated global radiation, in the present study one-hour forecast of global radiation from a numerical weather prediction (NWP) model is used. Systematical errors detected...... in the observations are corrected. These are errors such as: tilt in the leveling of the sensor, shadowing from surrounding objects, clipping and saturation in the signal processing, and errors from dirt and wear. The method is based on a statistical non-parametric clear-sky model which is applied to both...... University. The method can be useful for optimized use of solar radiation observations for forecasting, monitoring, and modeling of energy production and load which are affected by solar radiation....

  5. Non-parametric Reconstruction of Cluster Mass Distribution from Strong Lensing Modelling Abell 370

    CERN Document Server

    Abdel-Salam, H M; Williams, L L R

    1997-01-01

    We describe a new non-parametric technique for reconstructing the mass distribution in galaxy clusters with strong lensing, i.e., from multiple images of background galaxies. The observed positions and redshifts of the images are considered as rigid constraints and through the lens (ray-trace) equation they provide us with linear constraint equations. These constraints confine the mass distribution to some allowed region, which is then found by linear programming. Within this allowed region we study in detail the mass distribution with minimum mass-to-light variation; also some others, such as the smoothest mass distribution. The method is applied to the extensively studied cluster Abell 370, which hosts a giant luminous arc and several other multiply imaged background galaxies. Our mass maps are constrained by the observed positions and redshifts (spectroscopic or model-inferred by previous authors) of the giant arc and multiple image systems. The reconstructed maps obtained for A370 reveal a detailed mass d...

  6. Depth Transfer: Depth Extraction from Video Using Non-Parametric Sampling.

    Science.gov (United States)

    Karsch, Kevin; Liu, Ce; Kang, Sing Bing

    2014-11-01

    We describe a technique that automatically generates plausible depth maps from videos using non-parametric depth sampling. We demonstrate our technique in cases where past methods fail (non-translating cameras and dynamic scenes). Our technique is applicable to single images as well as videos. For videos, we use local motion cues to improve the inferred depth maps, while optical flow is used to ensure temporal depth consistency. For training and evaluation, we use a Kinect-based system to collect a large data set containing stereoscopic videos with known depths. We show that our depth estimation technique outperforms the state-of-the-art on benchmark databases. Our technique can be used to automatically convert a monoscopic video into stereo for 3D visualization, and we demonstrate this through a variety of visually pleasing results for indoor and outdoor scenes, including results from the feature film Charade.

  7. Comparison of non-parametric methods for ungrouping coarsely aggregated data

    DEFF Research Database (Denmark)

    Rizzi, Silvia; Thinggaard, Mikael; Engholm, Gerda

    2016-01-01

    Background Histograms are a common tool to estimate densities non-parametrically. They are extensively encountered in health sciences to summarize data in a compact format. Examples are age-specific distributions of death or onset of diseases grouped in 5-years age classes with an open-ended age...... methods for ungrouping count data. We compare the performance of two spline interpolation methods, two kernel density estimators and a penalized composite link model first via a simulation study and then with empirical data obtained from the NORDCAN Database. All methods analyzed can be used to estimate...... composite link model performs the best. Conclusion We give an overview and test different methods to estimate detailed distributions from grouped count data. Health researchers can benefit from these versatile methods, which are ready for use in the statistical software R. We recommend using the penalized...

  8. Non-parametric Estimation approach in statistical investigation of nuclear spectra

    CERN Document Server

    Jafarizadeh, M A; Sabri, H; Maleki, B Rashidian

    2011-01-01

    In this paper, Kernel Density Estimation (KDE) as a non-parametric estimation method is used to investigate statistical properties of nuclear spectra. The deviation to regular or chaotic dynamics, is exhibited by closer distances to Poisson or Wigner limits respectively which evaluated by Kullback-Leibler Divergence (KLD) measure. Spectral statistics of different sequences prepared by nuclei corresponds to three dynamical symmetry limits of Interaction Boson Model(IBM), oblate and prolate nuclei and also the pairing effect on nuclear level statistics are analyzed (with pure experimental data). KD-based estimated density function, confirm previous predictions with minimum uncertainty (evaluated with Integrate Absolute Error (IAE)) in compare to Maximum Likelihood (ML)-based method. Also, the increasing of regularity degrees of spectra due to pairing effect is reveal.

  9. Non-parametric method for separating domestic hot water heating spikes and space heating

    DEFF Research Database (Denmark)

    Bacher, Peder; de Saint-Aubain, Philip Anton; Christiansen, Lasse Engbo;

    2016-01-01

    In this paper a method for separating spikes from a noisy data series, where the data change and evolve over time, is presented. The method is applied on measurements of the total heat load for a single family house. It relies on the fact that the domestic hot water heating is a process generating...... short-lived spikes in the time series, while the space heating changes in slower patterns during the day dependent on the climate and user behavior. The challenge is to separate the domestic hot water heating spikes from the space heating without affecting the natural noise in the space heating...... measurements. The assumption behind the developed method is that the space heating can be estimated by a non-parametric kernel smoother, such that every value significantly above this kernel smoother estimate is identified as a domestic hot water heating spike. First, it is showed how a basic kernel smoothing...

  10. LICORS: Light Cone Reconstruction of States for Non-parametric Forecasting of Spatio-Temporal Systems

    CERN Document Server

    Goerg, Georg M

    2012-01-01

    We present a new, non-parametric forecasting method for data where continuous values are observed discretely in space and time. Our method, "light-cone reconstruction of states" (LICORS), uses physical principles to identify predictive states which are local properties of the system, both in space and time. LICORS discovers the number of predictive states and their predictive distributions automatically, and consistently, under mild assumptions on the data source. We provide an algorithm to implement our method, along with a cross-validation scheme to pick control settings. Simulations show that CV-tuned LICORS outperforms standard methods in forecasting challenging spatio-temporal dynamics. Our work provides applied researchers with a new, highly automatic method to analyze and forecast spatio-temporal data.

  11. A Novel Linkage to Generalized Vitiligo on 4q13-q21 Identified in a Genomewide Linkage Analysis of Chinese Families

    OpenAIRE

    Chen, Jian-Jun; Huang, Wei; Gui, Jin-Ping; Yang, Sen; Zhou, Fu-Sheng; Xiong, Quan-Geng; Wu, Hong-Bo; Cui, Yong; Gao, Min; Li, Wei; Li, Jin-Xian; Yan, Kai-Lin; Yuan, Wen-tao; Xu, Shi-Jie; Liu, Jian-Jun

    2005-01-01

    Generalized vitiligo is a common, autoimmune, familial-clustering depigmentary disorder of the skin and hair that results from selective destruction of melanocytes. Generalized vitiligo is likely a heterogeneous disease, with five susceptibility loci reported so far—on chromosomes 1p31, 6p21, 7q, 8p, and 17p13—in white populations. To investigate vitiligo susceptibility loci in the Chinese population, we performed a genomewide linkage analysis in 57 multiplex Chinese families, each with at le...

  12. High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

    Science.gov (United States)

    Jean, G; Fuchshuber, A; Town, M M; Gribouval, O; Schneider, J A; Broyer, M; van't Hoff, W; Niaudet, P; Antignac, C

    1996-03-01

    Infantile nephropathic cystinosis is an autosomal recessive disorder characterized biochemically by an abnormally high intracellular content of free cystine in different organs and tissues due to a transport defect of cystine through the lysosomal membrane. Affected children present with the Fanconi syndrome and usually develop progressive renal failure within the 1st decade of life. Measurement of free cystine in purified polymorphonuclear leukocytes provides an accurate method for diagnosis and detection of heterozygous carriers. In order to localize the gene locus for cystinosis we performed linkage analysis in 18 cystinosis families. However, since 17 of these were simplex families, we decided to include the phenotypes of the heterozygous carriers previously determined by their leukocyte cystine content in the linkage analysis. This approach allowed us to obtain highly significant results, confirming the localization of the cystinosis gene locus recently mapped to the short arm of chromosome 17 by the Cystinosis Collaborative Research Group. Crucial recombination events allowed us to refine the interval of the cystinosis gene to a genetic distance of 1 cM. No evidence of genetic heterogeneity was found. Our results demonstrate that the use of the previously determined phenotypes of heterozygous carriers in linkage analysis provides a reliable method for the investigation of simplex families in autosomal recessive traits.

  13. Genome scan for linkage to Gilles de la Tourette syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Barr, C.L.; Livingston, J.; Williamson, R. [and others

    1994-09-01

    Gilles de la Tourette Syndrome (TS) is a familial, neuropsychiatric disorder characterized by chronic, intermittent motor and vocal tics. In addition to tics, affected individuals frequently display symptoms such as attention-deficit hyperactivity disorder and/or obsessive compulsive disorder. Genetic analyses of family data have suggested that susceptibility to the disorder is most likely due to a single genetic locus with a dominant mode of transmission and reduced penetrance. In the search for genetic linkage for TS, we have collected well-characterized pedigrees with multiple affected individuals on whom extensive diagnostic evaluations have been done. The first stage of our study is to scan the genome systematically using a panel of uniformly spaced (10 to 20 cM), highly polymorphic, microsatellite markers on 5 families segregating TS. To date, 290 markers have been typed and 3,660 non-overlapping cM of the genome have been excluded for possible linkage under the assumption of genetic homogeneity. Because of the possibility of locus heterogeneity overall summed exclusion is not considered tantamount to absolute exclusion of a disease locus in that region. The results from each family are carefully evaluated and a positive lod score in a single family is followed up by typing closely linked markers. Linkage to TS was examined by two-point analysis using the following genetic model: single autosomal dominant gene with gene frequency .003 and maximum penetrance of .99. An age-of-onset correction is included using a linear function increasing from age 2 years to 21 years. A small rate of phenocopies is also incorporated into the model. Only individuals with TS or CMT according to DSM III-R criteria were regarded as affected for the purposes of this summary. Additional markers are being tested to provide coverage at 5 cM intervals. Moreover, we are currently analyzing the data non-parametrically using the Affected-Pedigree-Member Method of linkage analysis.

  14. Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy

    Institute of Scientific and Technical Information of China (English)

    MA Kai; LIU Ning-pu; YANG Xiu-fen; HAN Cui; ZHANG Ning; XU Jun; LIU Shou-bin; LU Hal; Torkel Snellingen; WANG Ning-li

    2009-01-01

    Background A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified.The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage nalysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography,fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months.Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted.Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD.The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUC Y2D, and AIPL1) and two genetic loci (4p15.2-16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings of this Chinese family with CACD shared

  15. Non-parametric methods – Tree and P-CFA – for the ecological evaluation and assessment of suitable aquatic habitats: A contribution to fish psychology

    Directory of Open Access Journals (Sweden)

    Andreas H. Melcher

    2012-09-01

    Full Text Available This study analyses multidimensional spawning habitat suitability of the fish species “Nase” (latin: Chondrostoma nasus. This is the first time non-parametric methods were used to better understand biotic habitat use in theory and practice. In particular, we tested (1 the Decision Tree technique, Chi-squared Automatic Interaction Detectors (CHAID, to identify specific habitat types and (2 Prediction-Configural Frequency Analysis (P-CFA to test for statistical significance. The combination of both non-parametric methods, CHAID and P-CFA, enabled the identification, prediction and interpretation of most typical significant spawning habitats, and we were also able to determine non-typical habitat types, e.g., types in contrast to antitypes. The gradual combination of these two methods underlined three significant habitat types: shaded habitat, fine and coarse substrate habitat depending on high flow velocity. The study affirmed the importance for fish species of shading and riparian vegetation along river banks. In addition, this method provides a weighting of interactions between specific habitat characteristics. The results demonstrate that efficient river restoration requires re-establishing riparian vegetation as well as the open river continuum and hydro-morphological improvements to habitats.

  16. Whole-genome linkage analysis in mapping alcoholism genes using single-nucleotide polymorphisms and microsatellites.

    Science.gov (United States)

    Wang, Shuang; Huang, Song; Liu, Nianjun; Chen, Liang; Oh, Cheongeun; Zhao, Hongyu

    2005-12-30

    There is currently a great interest in using single-nucleotide polymorphisms (SNPs) in genetic linkage and association studies because of the abundance of SNPs as well as the availability of high-throughput genotyping technologies. In this study, we compared the performance of whole-genome scans using SNPs with microsatellites on 143 pedigrees from the Collaborative Studies on Genetics of Alcoholism provided by Genetic Analysis Workshop 14. A total of 315 microsatellites and 10,081 SNPs from Affymetrix on 22 autosomal chromosomes were used in our analyses. We found that the results from the two scans had good overall concordance. One region on chromosome 2 and two regions on chromosome 7 showed significant linkage signals (i.e., NPL >or= 2) for alcoholism from both the SNP and microsatellite scans. The different results observed between the two scans may be explained by the difference observed in information content between the SNPs and the microsatellites.

  17. Ascertainment correction for Markov chain Monte Carlo segregation and linkage analysis of a quantitative trait.

    Science.gov (United States)

    Ma, Jianzhong; Amos, Christopher I; Warwick Daw, E

    2007-09-01

    Although extended pedigrees are often sampled through probands with extreme levels of a quantitative trait, Markov chain Monte Carlo (MCMC) methods for segregation and linkage analysis have not been able to perform ascertainment corrections. Further, the extent to which ascertainment of pedigrees leads to biases in the estimation of segregation and linkage parameters has not been previously studied for MCMC procedures. In this paper, we studied these issues with a Bayesian MCMC approach for joint segregation and linkage analysis, as implemented in the package Loki. We first simulated pedigrees ascertained through individuals with extreme values of a quantitative trait in spirit of the sequential sampling theory of Cannings and Thompson [Cannings and Thompson [1977] Clin. Genet. 12:208-212]. Using our simulated data, we detected no bias in estimates of the trait locus location. However, in addition to allele frequencies, when the ascertainment threshold was higher than or close to the true value of the highest genotypic mean, bias was also found in the estimation of this parameter. When there were multiple trait loci, this bias destroyed the additivity of the effects of the trait loci, and caused biases in the estimation all genotypic means when a purely additive model was used for analyzing the data. To account for pedigree ascertainment with sequential sampling, we developed a Bayesian ascertainment approach and implemented Metropolis-Hastings updates in the MCMC samplers used in Loki. Ascertainment correction greatly reduced biases in parameter estimates. Our method is designed for multiple, but a fixed number of trait loci.

  18. Genetic mapping of the gene for Usher syndrome: Linkage analysis in a large Samaritan kindred

    Energy Technology Data Exchange (ETDEWEB)

    Bonne-Tamir, B.; Korostishevsky, M.; Kalinsky, H.; Seroussi, E.; Beker, R.; Weiss, S. (Sackler Faculty of Medicine, Ramat-Aviv (Israel)); Godel, V. (Ichilov Hospital, Tel-Aviv (Israel))

    1994-03-01

    Usher syndrome is a group of autosomal recessive disorders associated with congenital sensorineural deafness and progressive visual loss due to retinitis pigmentosa. Sixteen members of the small inbred Samaritan isolate with autosomal recessive deafness from 59 individuals including parents and affected and nonaffected sibs were typed for markers on chromosomes 1q and 11q for which linkage has recently been established for Usher syndrome types II and I. Statistically significant linkage was observed with four markers on 11q (D11S533, D11S527, OMP, and INT2) with a maximum six-point location score of 11.61 at the D11S533 locus. Analysis of haplotypes supports the notion that the mutation arose only once in an ancestral chromosome carrying a specific haplotype. The availability of markers closely linked to the disease locus allows indirect genotype analysis and identifies all carriers of the gene within the community. Furthermore, the detection of complete linkage disequilibrium between the D11S533 marker and the Usher gene suggests that these loci are either identical or adjacent and narrows the critical region to which physical mapping efforts are currently directed. 35 refs., 2 figs., 6 tabs.

  19. Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.

    Directory of Open Access Journals (Sweden)

    Kristy R Crooks

    Full Text Available Primary open-angle glaucoma (POAG is the most common form of glaucoma and one of the leading causes of vision loss worldwide. The genetic etiology of POAG is complex and poorly understood. The purpose of this work is to identify genomic regions of interest linked to POAG. This study is the largest genetic linkage study of POAG performed to date: genomic DNA samples from 786 subjects (538 Caucasian ancestry, 248 African ancestry were genotyped using either the Illumina GoldenGate Linkage 4 Panel or the Illumina Infinium Human Linkage-12 Panel. A total of 5233 SNPs was analyzed in 134 multiplex POAG families (89 Caucasian ancestry, 45 African ancestry. Parametric and non-parametric linkage analyses were performed on the overall dataset and within race-specific datasets (Caucasian ancestry and African ancestry. Ordered subset analysis was used to stratify the data on the basis of age of glaucoma diagnosis. Novel linkage regions were identified on chromosomes 1 and 20, and two previously described loci-GLC1D on chromosome 8 and GLC1I on chromosome 15--were replicated. These data will prove valuable in the context of interpreting results from genome-wide association studies for POAG.

  20. A variable age of onset segregation model for linkage analysis, with correction for ascertainment, applied to glioma

    DEFF Research Database (Denmark)

    Sun, Xiangqing; Vengoechea, Jaime; Elston, Robert

    2012-01-01

    We propose a 2-step model-based approach, with correction for ascertainment, to linkage analysis of a binary trait with variable age of onset and apply it to a set of multiplex pedigrees segregating for adult glioma.......We propose a 2-step model-based approach, with correction for ascertainment, to linkage analysis of a binary trait with variable age of onset and apply it to a set of multiplex pedigrees segregating for adult glioma....

  1. Genome-wide linkage analysis of malaria infection intensity and mild disease.

    Directory of Open Access Journals (Sweden)

    Christian Timmann

    2007-03-01

    Full Text Available Although balancing selection with the sickle-cell trait and other red blood cell disorders has emphasized the interaction between malaria and human genetics, no systematic approach has so far been undertaken towards a comprehensive search for human genome variants influencing malaria. By screening 2,551 families in rural Ghana, West Africa, 108 nuclear families were identified who were exposed to hyperendemic malaria transmission and were homozygous wild-type for the established malaria resistance factors of hemoglobin (HbS, HbC, alpha(+ thalassemia, and glucose-6-phosphate-dehydrogenase deficiency. Of these families, 392 siblings aged 0.5-11 y were characterized for malaria susceptibility by closely monitoring parasite counts, malaria fever episodes, and anemia over 8 mo. An autosome-wide linkage analysis based on 10,000 single-nucleotide polymorphisms was conducted in 68 selected families including 241 siblings forming 330 sib pairs. Several regions were identified which showed evidence for linkage to the parasitological and clinical phenotypes studied, among them a prominent signal on Chromosome 10p15 obtained with malaria fever episodes (asymptotic z score = 4.37, empirical p-value = 4.0 x 10(-5, locus-specific heritability of 37.7%; 95% confidence interval, 15.7%-59.7%. The identification of genetic variants underlying the linkage signals may reveal as yet unrecognized pathways influencing human resistance to malaria.

  2. Posterior contraction rate for non-parametric Bayesian estimation of the dispersion coefficient of a stochastic differential equation

    NARCIS (Netherlands)

    Gugushvili, S.; Spreij, P.

    2016-01-01

    We consider the problem of non-parametric estimation of the deterministic dispersion coefficient of a linear stochastic differential equation based on discrete time observations on its solution. We take a Bayesian approach to the problem and under suitable regularity assumptions derive the posteror

  3. Further Empirical Results on Parametric Versus Non-Parametric IRT Modeling of Likert-Type Personality Data

    Science.gov (United States)

    Maydeu-Olivares, Albert

    2005-01-01

    Chernyshenko, Stark, Chan, Drasgow, and Williams (2001) investigated the fit of Samejima's logistic graded model and Levine's non-parametric MFS model to the scales of two personality questionnaires and found that the graded model did not fit well. We attribute the poor fit of the graded model to small amounts of multidimensionality present in…

  4. Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers

    Energy Technology Data Exchange (ETDEWEB)

    Rosen, D.R.; Sapp, P.; O`Regan, J.; McKenna-Yasek, D.; Schlumpf, K.S.; Haines, J.L.; Gusella, J.F.; Horvitz, H.R.; Brown, R.H. Jr. [Massachusetts Institute of Technology, Cambridge, MA (United States)

    1994-05-15

    Amyotrophic lateral sclerosis (ALS; Lou Gehrig`s Disease) is a lethal neurodegenerative disease of upper and lower motorneurons in the brain and spinal cord. We previously reported linkage of a gene for familial ALS (FALS) to human chromosome 21 using 4 restriction fragment length polymorphism DNA markers and identified disease-associated mutations in the superoxide dismutase (SOD)-1 gene in some ALS families. We report here the genetic linkage data that led us to examine the SOD-1 gene for mutations. We also report a new microsatellite DNA marker for D21S63, derived from the cosmid PW517. Ten microsatellite DNA markers, including the new marker D21S63, were used to reinvestigate linkage of FALS to chromosome 21. Genetic linkage analysis performed with 13 ALS familes for these 10 DNA markers confirmed the presence of a FALS gene on chromosome 21. The highest total 2-point LOD score for all families was 4.33, obtained at a distance of 10 cM from the marker D21S223. For 5 ALS families linked to chromosome 21, a peak 2-point LOD score of 5.94 was obtained at the DNA marker D21S223. A multipoint score of 6.50 was obtained with the markers D21S213, D21S223, D21S167, and FALS for 5 chromosome 21-linked ALS families. The haplotypes of these families for the 10 DNA markers reveal recombination events that further refined the location of the FALS gene to a segment of approximately 5 megabases (Mb) between D21S213 and D21S219. The only characterized gene within this segment was SOD-1, the structural gene for Cu, Zn SOD. 30 refs., 4 figs., 4 tabs.

  5. Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22.

    Science.gov (United States)

    Zhong, Wei; Cui, Bin; Zhang, Yizhi; Jiang, Haisong; Wei, Shengcai; Bu, Lei; Zhao, Guoping; Hu, Landian; Kong, Xiangyin

    2003-01-01

    Ichthyosis vulgaris (IV) is an inherited scaling skin disorder with a prevalence estimated at 2.29% in China. The gene responsible for this disorder has not been elucidated. To find the disease gene, we ascertained two Chinese IV families. Linkage analysis identified an IV locus on chromosome 1q22 with a maximum two-point Lod score of 2.47 at D1S1653 (theta=0.00). Haplotype analysis placed the critical region in a 7-cM interval defined by D1S1653 and D1S2675. These results provide the basis for further identifying the gene responsible for IV disorder.

  6. Importance sampling method of correction for multiple testing in affected sib-pair linkage analysis

    OpenAIRE

    Klein, Alison P.; Kovac, Ilija; Sorant, Alexa JM; Baffoe-Bonnie, Agnes; Doan, Betty Q; Ibay, Grace; Lockwood, Erica; Mandal, Diptasri; Santhosh, Lekshmi; Weissbecker, Karen; Woo, Jessica; Zambelli-Weiner, April; Zhang, Jie; Naiman, Daniel Q.; Malley, James

    2003-01-01

    Using the Genetic Analysis Workshop 13 simulated data set, we compared the technique of importance sampling to several other methods designed to adjust p-values for multiple testing: the Bonferroni correction, the method proposed by Feingold et al., and naïve Monte Carlo simulation. We performed affected sib-pair linkage analysis for each of the 100 replicates for each of five binary traits and adjusted the derived p-values using each of the correction methods. The type I error rates for each...

  7. Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing.

    Science.gov (United States)

    Teare, M Dawn; Santibañez Koref, Mauro F

    2014-09-01

    Whole exome and whole genome sequencing are now routinely used in the study of inherited disease, and some of their major successes have been the identification of genes involved in disease predisposition in pedigrees where disease seems to follow Mendelian inheritance patterns. These successes include scenarios where only a single individual was sequenced and raise the question whether linkage analysis has become superfluous. Linkage analysis requires genome-wide genotyping on family-based data, and traditionally the linkage analysis was performed before the targeting sequencing stage. However, methods are emerging that seek to exploit the capability of linkage analysis to integrate data both across individuals and across pedigrees. This ability has been exploited to select samples used for sequencing studies and to identify among the variants uncovered by sequencing those mapping to regions likely to contain the gene of interest and, more generally, to improve variant detection. So, although the formal isolated linkage analysis stage is less commonly seen, when uncovering the genetic basis of Mendelian disease, methods relying heavily on genetic linkage analysis principles are being integrated directly into the whole mapping process ranging from sample selection to variant calling and filtering. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  8. Structuring feature space: a non-parametric method for volumetric transfer function generation.

    Science.gov (United States)

    Maciejewski, Ross; Woo, Insoo; Chen, Wei; Ebert, David S

    2009-01-01

    The use of multi-dimensional transfer functions for direct volume rendering has been shown to be an effective means of extracting materials and their boundaries for both scalar and multivariate data. The most common multi-dimensional transfer function consists of a two-dimensional (2D) histogram with axes representing a subset of the feature space (e.g., value vs. value gradient magnitude), with each entry in the 2D histogram being the number of voxels at a given feature space pair. Users then assign color and opacity to the voxel distributions within the given feature space through the use of interactive widgets (e.g., box, circular, triangular selection). Unfortunately, such tools lead users through a trial-and-error approach as they assess which data values within the feature space map to a given area of interest within the volumetric space. In this work, we propose the addition of non-parametric clustering within the transfer function feature space in order to extract patterns and guide transfer function generation. We apply a non-parametric kernel density estimation to group voxels of similar features within the 2D histogram. These groups are then binned and colored based on their estimated density, and the user may interactively grow and shrink the binned regions to explore feature boundaries and extract regions of interest. We also extend this scheme to temporal volumetric data in which time steps of 2D histograms are composited into a histogram volume. A three-dimensional (3D) density estimation is then applied, and users can explore regions within the feature space across time without adjusting the transfer function at each time step. Our work enables users to effectively explore the structures found within a feature space of the volume and provide a context in which the user can understand how these structures relate to their volumetric data. We provide tools for enhanced exploration and manipulation of the transfer function, and we show that the initial

  9. A non-parametric statistical test to compare clusters with applications in functional magnetic resonance imaging data.

    Science.gov (United States)

    Fujita, André; Takahashi, Daniel Y; Patriota, Alexandre G; Sato, João R

    2014-12-10

    Statistical inference of functional magnetic resonance imaging (fMRI) data is an important tool in neuroscience investigation. One major hypothesis in neuroscience is that the presence or not of a psychiatric disorder can be explained by the differences in how neurons cluster in the brain. Therefore, it is of interest to verify whether the properties of the clusters change between groups of patients and controls. The usual method to show group differences in brain imaging is to carry out a voxel-wise univariate analysis for a difference between the mean group responses using an appropriate test and to assemble the resulting 'significantly different voxels' into clusters, testing again at cluster level. In this approach, of course, the primary voxel-level test is blind to any cluster structure. Direct assessments of differences between groups at the cluster level seem to be missing in brain imaging. For this reason, we introduce a novel non-parametric statistical test called analysis of cluster structure variability (ANOCVA), which statistically tests whether two or more populations are equally clustered. The proposed method allows us to compare the clustering structure of multiple groups simultaneously and also to identify features that contribute to the differential clustering. We illustrate the performance of ANOCVA through simulations and an application to an fMRI dataset composed of children with attention deficit hyperactivity disorder (ADHD) and controls. Results show that there are several differences in the clustering structure of the brain between them. Furthermore, we identify some brain regions previously not described to be involved in the ADHD pathophysiology, generating new hypotheses to be tested. The proposed method is general enough to be applied to other types of datasets, not limited to fMRI, where comparison of clustering structures is of interest. Copyright © 2014 John Wiley & Sons, Ltd.

  10. A non-parametric approach for detecting gene-gene interactions associated with age-at-onset outcomes.

    Science.gov (United States)

    Li, Ming; Gardiner, Joseph C; Breslau, Naomi; Anthony, James C; Lu, Qing

    2014-07-01

    Cox-regression-based methods have been commonly used for the analyses of survival outcomes, such as age-at-disease-onset. These methods generally assume the hazard functions are proportional among various risk groups. However, such an assumption may not be valid in genetic association studies, especially when complex interactions are involved. In addition, genetic association studies commonly adopt case-control designs. Direct use of Cox regression to case-control data may yield biased estimators and incorrect statistical inference. We propose a non-parametric approach, the weighted Nelson-Aalen (WNA) approach, for detecting genetic variants that are associated with age-dependent outcomes. The proposed approach can be directly applied to prospective cohort studies, and can be easily extended for population-based case-control studies. Moreover, it does not rely on any assumptions of the disease inheritance models, and is able to capture high-order gene-gene interactions. Through simulations, we show the proposed approach outperforms Cox-regression-based methods in various scenarios. We also conduct an empirical study of progression of nicotine dependence by applying the WNA approach to three independent datasets from the Study of Addiction: Genetics and Environment. In the initial dataset, two SNPs, rs6570989 and rs2930357, located in genes GRIK2 and CSMD1, are found to be significantly associated with the progression of nicotine dependence (ND). The joint association is further replicated in two independent datasets. Further analysis suggests that these two genes may interact and be associated with the progression of ND. As demonstrated by the simulation studies and real data analysis, the proposed approach provides an efficient tool for detecting genetic interactions associated with age-at-onset outcomes.

  11. Strategies for assessing proton linkage to bimolecular interactions by global analysis of isothermal titration calorimetry data.

    Science.gov (United States)

    Coussens, Nathan P; Schuck, Peter; Zhao, Huaying

    2012-09-01

    Isothermal titration calorimetry (ITC) is a traditional and powerful method for studying the linkage of ligand binding to proton uptake or release. The theoretical framework has been developed for more than two decades and numerous applications have appeared. In the current work, we explored strategic aspects of experimental design. To this end, we simulated families of ITC data sets that embed different strategies with regard to the number of experiments, range of experimental pH, buffer ionization enthalpy, and temperature. We then re-analyzed the families of data sets in the context of global analysis, employing a proton linkage binding model implemented in the global data analysis platform SEDPHAT, and examined the information content of all data sets by a detailed statistical error analysis of the parameter estimates. In particular, we studied the impact of different assumptions about the knowledge of the exact concentrations of the components, which in practice presents an experimental limitation for many systems. For example, the uncertainty in concentration may reflect imperfectly known extinction coefficients and stock concentrations or may account for different extents of partial inactivation when working with proteins at different pH values. Our results show that the global analysis can yield reliable estimates of the thermodynamic parameters for intrinsic binding and protonation, and that in the context of the global analysis the exact molecular component concentrations may not be required. Additionally, a comparison of data from different experimental strategies illustrates the benefit of conducting experiments at a range of temperatures.

  12. Non-parametric determination of H and He IS fluxes from cosmic-ray data

    CERN Document Server

    Ghelfi, A; Derome, L; Maurin, D

    2015-01-01

    Top-of-atmosphere (TOA) cosmic-ray (CR) fluxes from satellites and balloon-borne experiments are snapshots of the solar activity imprinted on the interstellar (IS) fluxes. Given a series of snapshots, the unknown IS flux shape and the level of modulation (for each snapshot) can be recovered. We wish (i) to provide the most accurate determination of the IS H and He fluxes from TOA data only, (ii) to obtain the associated modulation levels (and uncertainties) fully accounting for the correlations with the IS flux uncertainties, and (iii) to inspect whether the minimal Force-Field approximation is sufficient to explain all the data at hand. Using H and He TOA measurements, including the recent high precision AMS, BESS-Polar and PAMELA data, we perform a non-parametric fit of the IS fluxes $J^{\\rm IS}_{\\rm H,~He}$ and modulation level $\\phi_i$ for each data taking period. We rely on a Markov Chain Monte Carlo (MCMC) engine to extract the PDF and correlations (hence the credible intervals) of the sought parameters...

  13. THE DARK MATTER PROFILE OF THE MILKY WAY: A NON-PARAMETRIC RECONSTRUCTION

    Energy Technology Data Exchange (ETDEWEB)

    Pato, Miguel [The Oskar Klein Centre for Cosmoparticle Physics, Department of Physics, Stockholm University, AlbaNova, SE-106 91 Stockholm (Sweden); Iocco, Fabio [ICTP South American Institute for Fundamental Research, and Instituto de Física Teórica—Universidade Estadual Paulista (UNESP), Rua Dr. Bento Teobaldo Ferraz 271, 01140-070 São Paulo, SP (Brazil)

    2015-04-10

    We present the results of a new, non-parametric method to reconstruct the Galactic dark matter profile directly from observations. Using the latest kinematic data to track the total gravitational potential and the observed distribution of stars and gas to set the baryonic component, we infer the dark matter contribution to the circular velocity across the Galaxy. The radial derivative of this dynamical contribution is then estimated to extract the dark matter profile. The innovative feature of our approach is that it makes no assumption on the functional form or shape of the profile, thus allowing for a clean determination with no theoretical bias. We illustrate the power of the method by constraining the spherical dark matter profile between 2.5 and 25 kpc away from the Galactic center. The results show that the proposed method, free of widely used assumptions, can already be applied to pinpoint the dark matter distribution in the Milky Way with competitive accuracy, and paves the way for future developments.

  14. Comparison of non-parametric methods for ungrouping coarsely aggregated data

    Directory of Open Access Journals (Sweden)

    Silvia Rizzi

    2016-05-01

    Full Text Available Abstract Background Histograms are a common tool to estimate densities non-parametrically. They are extensively encountered in health sciences to summarize data in a compact format. Examples are age-specific distributions of death or onset of diseases grouped in 5-years age classes with an open-ended age group at the highest ages. When histogram intervals are too coarse, information is lost and comparison between histograms with different boundaries is arduous. In these cases it is useful to estimate detailed distributions from grouped data. Methods From an extensive literature search we identify five methods for ungrouping count data. We compare the performance of two spline interpolation methods, two kernel density estimators and a penalized composite link model first via a simulation study and then with empirical data obtained from the NORDCAN Database. All methods analyzed can be used to estimate differently shaped distributions; can handle unequal interval length; and allow stretches of 0 counts. Results The methods show similar performance when the grouping scheme is relatively narrow, i.e. 5-years age classes. With coarser age intervals, i.e. in the presence of open-ended age groups, the penalized composite link model performs the best. Conclusion We give an overview and test different methods to estimate detailed distributions from grouped count data. Health researchers can benefit from these versatile methods, which are ready for use in the statistical software R. We recommend using the penalized composite link model when data are grouped in wide age classes.

  15. Non-parametric method for measuring gas inhomogeneities from X-ray observations of galaxy clusters

    CERN Document Server

    Morandi, Andrea; Cui, Wei

    2013-01-01

    We present a non-parametric method to measure inhomogeneities in the intracluster medium (ICM) from X-ray observations of galaxy clusters. Analyzing mock Chandra X-ray observations of simulated clusters, we show that our new method enables the accurate recovery of the 3D gas density and gas clumping factor profiles out to large radii of galaxy clusters. We then apply this method to Chandra X-ray observations of Abell 1835 and present the first determination of the gas clumping factor from the X-ray cluster data. We find that the gas clumping factor in Abell 1835 increases with radius and reaches ~2-3 at r=R_{200}. This is in good agreement with the predictions of hydrodynamical simulations, but it is significantly below the values inferred from recent Suzaku observations. We further show that the radially increasing gas clumping factor causes flattening of the derived entropy profile of the ICM and affects physical interpretation of the cluster gas structure, especially at the large cluster-centric radii. Our...

  16. Modeling the World Health Organization Disability Assessment Schedule II using non-parametric item response models.

    Science.gov (United States)

    Galindo-Garre, Francisca; Hidalgo, María Dolores; Guilera, Georgina; Pino, Oscar; Rojo, J Emilio; Gómez-Benito, Juana

    2015-03-01

    The World Health Organization Disability Assessment Schedule II (WHO-DAS II) is a multidimensional instrument developed for measuring disability. It comprises six domains (getting around, self-care, getting along with others, life activities and participation in society). The main purpose of this paper is the evaluation of the psychometric properties for each domain of the WHO-DAS II with parametric and non-parametric Item Response Theory (IRT) models. A secondary objective is to assess whether the WHO-DAS II items within each domain form a hierarchy of invariantly ordered severity indicators of disability. A sample of 352 patients with a schizophrenia spectrum disorder is used in this study. The 36 items WHO-DAS II was administered during the consultation. Partial Credit and Mokken scale models are used to study the psychometric properties of the questionnaire. The psychometric properties of the WHO-DAS II scale are satisfactory for all the domains. However, we identify a few items that do not discriminate satisfactorily between different levels of disability and cannot be invariantly ordered in the scale. In conclusion the WHO-DAS II can be used to assess overall disability in patients with schizophrenia, but some domains are too general to assess functionality in these patients because they contain items that are not applicable to this pathology.

  17. Non-parametric reconstruction of the galaxy-lens in PG1115+080

    CERN Document Server

    Saha, P; Saha, Prasenjit; Williams, Liliya L. R.

    1997-01-01

    We describe a new, non-parametric, method for reconstructing lensing mass distributions in multiple-image systems, and apply it to PG1115, for which time delays have recently been measured. It turns out that the image positions and the ratio of time delays between different pairs of images constrain the mass distribution in a linear fashion. Since observational errors on image positions and time delay ratios are constantly improving, we use these data as a rigid constraint in our modelling. In addition, we require the projected mass distributions to be inversion-symmetric and to have inward-pointing density gradients. With these realistic yet non-restrictive conditions it is very easy to produce mass distributions that fit the data precisely. We then present models, for $H_0=42$, 63 and 84 \\kmsmpc, that in each case minimize mass-to-light variations while strictly obeying the lensing constraints. (Only a very rough light distribution is available at present.) All three values of $H_0$ are consistent with the ...

  18. Comparison between linear and non-parametric regression models for genome-enabled prediction in wheat.

    Science.gov (United States)

    Pérez-Rodríguez, Paulino; Gianola, Daniel; González-Camacho, Juan Manuel; Crossa, José; Manès, Yann; Dreisigacker, Susanne

    2012-12-01

    In genome-enabled prediction, parametric, semi-parametric, and non-parametric regression models have been used. This study assessed the predictive ability of linear and non-linear models using dense molecular markers. The linear models were linear on marker effects and included the Bayesian LASSO, Bayesian ridge regression, Bayes A, and Bayes B. The non-linear models (this refers to non-linearity on markers) were reproducing kernel Hilbert space (RKHS) regression, Bayesian regularized neural networks (BRNN), and radial basis function neural networks (RBFNN). These statistical models were compared using 306 elite wheat lines from CIMMYT genotyped with 1717 diversity array technology (DArT) markers and two traits, days to heading (DTH) and grain yield (GY), measured in each of 12 environments. It was found that the three non-linear models had better overall prediction accuracy than the linear regression specification. Results showed a consistent superiority of RKHS and RBFNN over the Bayesian LASSO, Bayesian ridge regression, Bayes A, and Bayes B models.

  19. Decision making in coal mine planning using a non-parametric technique of indicator kriging

    Energy Technology Data Exchange (ETDEWEB)

    Mamurekli, D. [Hacettepe University, Ankara (Turkey). Mining Engineering Dept.

    1997-03-01

    In countries where low calorific value coal reserves are abundant and oil reserves are short or none, the requirement of energy production is mainly supported by coal-fired power stations. Consequently, planning to mine the low calorific value coal deposits gains much importance considering the technical and environmental restrictions. Such a mine in Kangal Town of Sivas City is the one that delivers run of mine coal directly to the power station built in the region. In case the calorific value and the ash content of the extracted coal are lower and higher than the required limits, 1300 kcal/kg and 21%, respectively, the power station may apply penalties to the coal producing company. Since the delivery is continuous and made by relying on in situ determination of pre-estimated values these assessments without defining any confidence levels are inevitably subject to inaccuracy. Thus, the company should be aware of uncertainties in making decisions and avoid conceivable risks. In this study, valuable information is provided in the form of conditional distribution to be used during planning process. It maps the indicator variogram corresponding to calorific value of 1300 kcal/kg and the ash content of 21% estimating the conditional probabilities that the true ash contents are less and calorific values are higher than the critical limits by the application of non-parametric technique, indicator kriging. In addition, it outlines the areas that are most uncertain for decision making. 4 refs., 8 figs., 3 tabs.

  20. Patterns of trunk muscle activation during walking and pole walking using statistical non-parametric mapping.

    Science.gov (United States)

    Zoffoli, Luca; Ditroilo, Massimiliano; Federici, Ario; Lucertini, Francesco

    2017-09-09

    This study used surface electromyography (EMG) to investigate the regions and patterns of activity of the external oblique (EO), erector spinae longissimus (ES), multifidus (MU) and rectus abdominis (RA) muscles during walking (W) and pole walking (PW) performed at different speeds and grades. Eighteen healthy adults undertook W and PW on a motorized treadmill at 60% and 100% of their walk-to-run preferred transition speed at 0% and 7% treadmill grade. The Teager-Kaiser energy operator was employed to improve the muscle activity detection and statistical non-parametric mapping based on paired t-tests was used to highlight statistical differences in the EMG patterns corresponding to different trials. The activation amplitude of all trunk muscles increased at high speed, while no differences were recorded at 7% treadmill grade. ES and MU appeared to support the upper body at the heel-strike during both W and PW, with the latter resulting in elevated recruitment of EO and RA as required to control for the longer stride and the push of the pole. Accordingly, the greater activity of the abdominal muscles and the comparable intervention of the spine extensors supports the use of poles by walkers seeking higher engagement of the lower trunk region. Copyright © 2017 Elsevier Ltd. All rights reserved.

  1. Non-parametric Deprojection of Surface Brightness Profiles of Galaxies in Generalised Geometries

    CERN Document Server

    Chakrabarty, Dalia

    2009-01-01

    We present a new Bayesian non-parametric deprojection algorithm DOPING (Deprojection of Observed Photometry using and INverse Gambit), that is designed to extract 3-D luminosity density distributions $\\rho$ from observed surface brightness maps $I$, in generalised geometries, while taking into account changes in intrinsic shape with radius, using a penalised likelihood approach and an MCMC optimiser. We provide the most likely solution to the integral equation that represents deprojection of the measured $I$ to $\\rho$. In order to keep the solution modular, we choose to express $\\rho$ as a function of the line-of-sight (LOS) coordinate $z$. We calculate the extent of the system along the ${\\bf z}$-axis, for a given point on the image that lies within an identified isophotal annulus. The extent along the LOS is binned and density is held a constant over each such $z$-bin. The code begins with a seed density and at the beginning of an iterative step, the trial $\\rho$ is updated. Comparison of the projection of ...

  2. COLOR IMAGE RETRIEVAL BASED ON NON-PARAMETRIC STATISTICAL TESTS OF HYPOTHESIS

    Directory of Open Access Journals (Sweden)

    R. Shekhar

    2016-09-01

    Full Text Available A novel method for color image retrieval, based on statistical non-parametric tests such as twosample Wald Test for equality of variance and Man-Whitney U test, is proposed in this paper. The proposed method tests the deviation, i.e. distance in terms of variance between the query and target images; if the images pass the test, then it is proceeded to test the spectrum of energy, i.e. distance between the mean values of the two images; otherwise, the test is dropped. If the query and target images pass the tests then it is inferred that the two images belong to the same class, i.e. both the images are same; otherwise, it is assumed that the images belong to different classes, i.e. both images are different. The proposed method is robust for scaling and rotation, since it adjusts itself and treats either the query image or the target image is the sample of other.

  3. Non-Parametric Evolutionary Algorithm for Estimating Root Zone Soil Moisture

    Science.gov (United States)

    Mohanty, B.; Shin, Y.; Ines, A. M.

    2013-12-01

    Prediction of root zone soil moisture is critical for water resources management. In this study, we explored a non-parametric evolutionary algorithm for estimating root zone soil moisture from a time series of spatially-distributed rainfall across multiple weather locations under two different hydro-climatic regions. A new genetic algorithm-based hidden Markov model (HMMGA) was developed to estimate long-term root zone soil moisture dynamics at different soil depths. Also, we analyzed rainfall occurrence probabilities and dry/wet spell lengths reproduced by this approach. The HMMGA was used to estimate the optimal state sequences (weather states) based on the precipitation history. Historical root zone soil moisture statistics were then determined based on the weather state conditions. To test the new approach, we selected two different soil moisture fields, Oklahoma (130 km x 130 km) and Illinois (300 km x 500 km), during 1995 to 2009 and 1994 to 2010, respectively. We found that the newly developed framework performed well in predicting root zone soil moisture dynamics at both the spatial scales. Also, the reproduced rainfall occurrence probabilities and dry/wet spell lengths matched well with the observations at the spatio-temporal scales. Since the proposed algorithm requires only precipitation and historical soil moisture data from existing, established weather stations, it can serve an attractive alternative for predicting root zone soil moisture in the future using climate change scenarios and root zone soil moisture history.

  4. An artificial neural network architecture for non-parametric visual odometry in wireless capsule endoscopy

    Science.gov (United States)

    Dimas, George; Iakovidis, Dimitris K.; Karargyris, Alexandros; Ciuti, Gastone; Koulaouzidis, Anastasios

    2017-09-01

    Wireless capsule endoscopy is a non-invasive screening procedure of the gastrointestinal (GI) tract performed with an ingestible capsule endoscope (CE) of the size of a large vitamin pill. Such endoscopes are equipped with a usually low-frame-rate color camera which enables the visualization of the GI lumen and the detection of pathologies. The localization of the commercially available CEs is performed in the 3D abdominal space using radio-frequency (RF) triangulation from external sensor arrays, in combination with transit time estimation. State-of-the-art approaches, such as magnetic localization, which have been experimentally proved more accurate than the RF approach, are still at an early stage. Recently, we have demonstrated that CE localization is feasible using solely visual cues and geometric models. However, such approaches depend on camera parameters, many of which are unknown. In this paper the authors propose a novel non-parametric visual odometry (VO) approach to CE localization based on a feed-forward neural network architecture. The effectiveness of this approach in comparison to state-of-the-art geometric VO approaches is validated using a robotic-assisted in vitro experimental setup.

  5. A Non-parametric Approach to Constrain the Transfer Function in Reverberation Mapping

    Science.gov (United States)

    Li, Yan-Rong; Wang, Jian-Min; Bai, Jin-Ming

    2016-11-01

    Broad emission lines of active galactic nuclei stem from a spatially extended region (broad-line region, BLR) that is composed of discrete clouds and photoionized by the central ionizing continuum. The temporal behaviors of these emission lines are blurred echoes of continuum variations (i.e., reverberation mapping, RM) and directly reflect the structures and kinematic information of BLRs through the so-called transfer function (also known as the velocity-delay map). Based on the previous works of Rybicki and Press and Zu et al., we develop an extended, non-parametric approach to determine the transfer function for RM data, in which the transfer function is expressed as a sum of a family of relatively displaced Gaussian response functions. Therefore, arbitrary shapes of transfer functions associated with complicated BLR geometry can be seamlessly included, enabling us to relax the presumption of a specified transfer function frequently adopted in previous studies and to let it be determined by observation data. We formulate our approach in a previously well-established framework that incorporates the statistical modeling of continuum variations as a damped random walk process and takes into account long-term secular variations which are irrelevant to RM signals. The application to RM data shows the fidelity of our approach.

  6. A Non-parametric Approach to Constrain the Transfer Function in Reverberation Mapping

    CERN Document Server

    Li, Yan-Rong; Bai, Jin-Ming

    2016-01-01

    Broad emission lines of active galactic nuclei stem from a spatially extended region (broad-line region; BLR) that are composed of discrete clouds and photoionized by the central ionizing continuum. The temporal behaviors of these emission lines are blurred echoes of the continuum variations (i.e., reverberation mapping; RM) and directly reflect structures and kinematics information of BLRs through the so-called transfer function (also known as velocity-delay map). Based on the previous works of Rybicki & Press (1992) and Zu et al. (2011), we develop an extended, non-parametric approach to determine the transfer function for RM data, in which the transfer function is expressed as a sum of a family of relatively-displaced Gaussian response functions. As such, arbitrary shapes of transfer functions associated with complicated BLR geometry can be seamlessly included, enabling us to relax the presumption of a specified transfer function frequently adopted in previous studies and to let it be determined by obs...

  7. A combined linkage and exome sequencing analysis for electrocardiogram parameters in the Erasmus Rucphen Family study

    Directory of Open Access Journals (Sweden)

    Claudia Tamar Silva

    2016-11-01

    Full Text Available Electrocardiogram (ECG measurements play a key role in the diagnosis and prediction of cardiac arrhythmias and sudden cardiac death. ECG parameters, such as the PR, QRS, and QT intervals, are known to be heritable and genome-wide association studies (GWAS of these phenotypes have been successful in identifying common variants; however, a large proportion of the genetic variability of these traits remains to be elucidated. The aim of this study was to discover loci potentially harboring rare variants utilizing variance component linkage analysis in 1547 individuals from a large family-based study, the Erasmus Rucphen Family Study (ERF. Linked regions were further explored using exome sequencing. Five suggestive linkage peaks were identified: two for QT interval (1q24, LOD = 2.63; 2q34, LOD = 2.05, one for QRS interval (1p35, LOD = 2.52 and two for PR interval (9p22, LOD = 2.20; 14q11, LOD = 2.29. Fine-mapping using exome sequence data identified a C > G missense variant (c.713C>G, p.Ser238Cys in the FCRL2 gene associated with QT (rs74608430; P = 2.8 ×10-4, minor allele frequency = 0.019. Heritability analysis demonstrated that the SNP explained 2.42% of the trait’s genetic variability in ERF (P = 0.02. Pathway analysis suggested that the gene is involved in cytosolic Ca2+ levels (P = 3.3 × 10-3 and AMPK stimulated fatty acid oxidation in muscle (P = 4.1 ×10-3. Look-ups in bioinformatics resources showed that expression of FCRL2 is associated with ARHGAP24 and SETBP1 expression. This finding was not replicated in the Rotterdam study. Combining the bioinformatics information with the association and linkage analyses, FCRL2 emerges as a strong candidate gene for QT interval.

  8. The sumLINK statistic for genetic linkage analysis in the presence of heterogeneity.

    Science.gov (United States)

    Christensen, G B; Knight, S; Camp, N J

    2009-11-01

    We present the "sumLINK" statistic--the sum of multipoint LOD scores for the subset of pedigrees with nominally significant linkage evidence at a given locus--as an alternative to common methods to identify susceptibility loci in the presence of heterogeneity. We also suggest the "sumLOD" statistic (the sum of positive multipoint LOD scores) as a companion to the sumLINK. sumLINK analysis identifies genetic regions of extreme consistency across pedigrees without regard to negative evidence from unlinked or uninformative pedigrees. Significance is determined by an innovative permutation procedure based on genome shuffling that randomizes linkage information across pedigrees. This procedure for generating the empirical null distribution may be useful for other linkage-based statistics as well. Using 500 genome-wide analyses of simulated null data, we show that the genome shuffling procedure results in the correct type 1 error rates for both the sumLINK and sumLOD. The power of the statistics was tested using 100 sets of simulated genome-wide data from the alternative hypothesis from GAW13. Finally, we illustrate the statistics in an analysis of 190 aggressive prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics, where we identified a new susceptibility locus. We propose that the sumLINK and sumLOD are ideal for collaborative projects and meta-analyses, as they do not require any sharing of identifiable data between contributing institutions. Further, loci identified with the sumLINK have good potential for gene localization via statistical recombinant mapping, as, by definition, several linked pedigrees contribute to each peak.

  9. Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.

    Science.gov (United States)

    Borgulová, Irena; Putzová, Martina; Soldatova, Inna; Stejskal, David

    2017-08-07

    To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease. We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage analysis, when during analysis we reach to exclude embryos that carry a high-risk haplotype linked to the causal mutation p.Leu9Phe in the GJB1 gene. Within the PGD cycle, we examined 4 blastomeres biopsied from cleavage-stage embryos and recommended 3 embryos for transfer. Two embryos were implanted into the uterus; however, it resulted in a singleton pregnancy with a male descendant. Three years later, the couple returned again with spontaneous gravidity. A chorionic biopsy examination of this gravidity ascertained the female sex and a pericentric inversion of chromosome 5 in 70% of the cultivated foetal cells. Using indirect linkage analysis, PGD may help to identify genetic X-linked defects within embryos during screening, thereby circumventing the potential problems with abortion. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  10. Neurofibromatosis type I (NFI) in Israeli families: Linkage analysis as a diagnostic tool

    Energy Technology Data Exchange (ETDEWEB)

    Elyakim, S.; Lerer, I.; Zlotogora, J.; Sagi, M.; Merin, S.; Abeliovich, D. [Hadassah Univ. Hospital, Jerusalem (Israel); Gelman-Kohan, Z. [Hebrew Univ. Hadassah Medical School, Rehovot (Israel)

    1994-12-01

    Linkage analysis of 18 neurofibromatosis type I (NFI) families was performed using intragenic and flanking polymorphic markers. The aims of the analysis were prenatal diagnosis of at-risk fetuses, and of asymptomatic individuals who were relatives of NFI patients. Prenatal diagnosis was performed in 9 pregnancies of 7 families; 5 fetuses were diagnosed as affected. In 6 families with an affected spouse, the request was to identify informative polymorphisms to be used in future pregnancies. Presymptomatic diagnosis was performed in 4 families. One individual, a brother of an NFI patient, was found to have Lisch nodules as the only NFI symptom. Linkage analysis indicated that if this person is a carrier of the NFI gene, he must be a product of intragenic crossover. In 2 individuals with a new NFI mutation, the origin of the NFI-bearing chromosomes was paternal. The same observation was noted by others. A summary of published cases shows that some 90% of the NFI-bearing chromosomes of patients with new mutations were of paternal origin. We therefore suggest that for the purpose of prenatal diagnosis in carriers of NFI new (and unidentified) mutations, the paternal chromosome will be considered as the NFI-bearing chromosome. 49 refs., 4 figs., 3 tabs.

  11. Nonlinear Analysis of Time Series in Genome-Wide Linkage Disequilibrium Data

    Science.gov (United States)

    Hernández-Lemus, Enrique; Estrada-Gil, Jesús K.; Silva-Zolezzi, Irma; Fernández-López, J. Carlos; Hidalgo-Miranda, Alfredo; Jiménez-Sánchez, Gerardo

    2008-02-01

    The statistical study of large scale genomic data has turned out to be a very important tool in population genetics. Quantitative methods are essential to understand and implement association studies in the biomedical and health sciences. Nevertheless, the characterization of recently admixed populations has been an elusive problem due to the presence of a number of complex phenomena. For example, linkage disequilibrium structures are thought to be more complex than their non-recently admixed population counterparts, presenting the so-called ancestry blocks, admixed regions that are not yet smoothed by the effect of genetic recombination. In order to distinguish characteristic features for various populations we have implemented several methods, some of them borrowed or adapted from the analysis of nonlinear time series in statistical physics and quantitative physiology. We calculate the main fractal dimensions (Kolmogorov's capacity, information dimension and correlation dimension, usually named, D0, D1 and D2). We also have made detrended fluctuation analysis and information based similarity index calculations for the probability distribution of correlations of linkage disequilibrium coefficient of six recently admixed (mestizo) populations within the Mexican Genome Diversity Project [1] and for the non-recently admixed populations in the International HapMap Project [2]. Nonlinear correlations showed up as a consequence of internal structure within the haplotype distributions. The analysis of these correlations as well as the scope and limitations of these procedures within the biomedical sciences are discussed.

  12. An approach to incorporate linkage disequilibrium structure into genomic association analysis

    Institute of Scientific and Technical Information of China (English)

    Fengyu Zhang; Diane Wagener

    2008-01-01

    In this study, we propose to use the principal component analysis (PCA) and regression model to incorporate linkage disequilibrium (LD) in genomic association data analysis. To accommodate LD in genomic data and reduce multiple testing, we suggest performing PCA and extracting the PCA score to capture the variation of genomic data, after which regression analysis is used to assess the association of the disease with the principal component score. An empirical analysis result shows that both genotype-basod correlation matrix and haplotype-based LD matrix can produce similar results for PCA. Principal component score seems to be more powerful in detecting genetic association because the principal component score is quantitatively measured and may be able to capture the effect of multiple loci.

  13. Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families.

    Science.gov (United States)

    Woodbury-Smith, M; Bilder, D A; Morgan, J; Jerominski, L; Darlington, T; Dyer, T; Paterson, A D; Coon, H

    2017-01-01

    It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis. The Illumina 6K SNP linkage panel was used, and analyses were carried out using the SOLAR implemented variance components model. Loci identified in this way formed the target for subsequent association analysis using the Illumina OmniExpress chip and imputed genotypes. A modification of the qTDT was used as implemented in SOLAR. We identified a linkage signal spanning 6p21.31 to 6p22.2 (maximum LOD = 3.4). Although targeted association did not find evidence of association with any SNP overall, in one family with the strongest evidence of linkage, there was evidence for association (rs17586672, p = 1.72E-07). Although this region does not overlap with ASD linkage signals in these same samples, it has been associated with other psychiatric risk, including ADHD, developmental dyslexia, schizophrenia, specific language impairment, and juvenile bipolar disorder. The genome-wide significant linkage signal represents the first reported observation of a potential quantitative trait locus for HC in ASD and may be relevant in the context of complex multivariate risk likely leading to ASD.

  14. Linkage Map Construction and Quantitative Trait Locus Analysis of Agronomic and Fiber Quality Traits in Cotton

    Directory of Open Access Journals (Sweden)

    Michael A. Gore

    2014-03-01

    Full Text Available The superior fiber properties of L. serve as a source of novel variation for improving fiber quality in Upland cotton ( L., but introgression from has been largely unsuccessful due to hybrid breakdown and a lack of genetic and genomic resources. In an effort to overcome these limitations, we constructed a linkage map and conducted a quantitative trait locus (QTL analysis of 10 agronomic and fiber quality traits in a recombinant inbred mapping population derived from a cross between TM-1, an Upland cotton line, and NM24016, an elite line with stabilized introgression from . The linkage map consisted of 429 simple-sequence repeat (SSR and 412 genotyping-by-sequencing (GBS-based single-nucleotide polymorphism (SNP marker loci that covered half of the tetraploid cotton genome. Notably, the 841 marker loci were unevenly distributed among the 26 chromosomes of tetraploid cotton. The 10 traits evaluated on the TM-1 × NM24016 population in a multienvironment trial were highly heritable, and most of the fiber traits showed considerable transgressive variation. Through the QTL analysis, we identified a total of 28 QTLs associated with the 10 traits. Our study provides a novel resource that can be used by breeders and geneticists for the genetic improvement of agronomic and fiber quality traits in Upland cotton.

  15. Parametric and Non-Parametric Vibration-Based Structural Identification Under Earthquake Excitation

    Science.gov (United States)

    Pentaris, Fragkiskos P.; Fouskitakis, George N.

    2014-05-01

    The problem of modal identification in civil structures is of crucial importance, and thus has been receiving increasing attention in recent years. Vibration-based methods are quite promising as they are capable of identifying the structure's global characteristics, they are relatively easy to implement and they tend to be time effective and less expensive than most alternatives [1]. This paper focuses on the off-line structural/modal identification of civil (concrete) structures subjected to low-level earthquake excitations, under which, they remain within their linear operating regime. Earthquakes and their details are recorded and provided by the seismological network of Crete [2], which 'monitors' the broad region of south Hellenic arc, an active seismic region which functions as a natural laboratory for earthquake engineering of this kind. A sufficient number of seismic events are analyzed in order to reveal the modal characteristics of the structures under study, that consist of the two concrete buildings of the School of Applied Sciences, Technological Education Institute of Crete, located in Chania, Crete, Hellas. Both buildings are equipped with high-sensitivity and accuracy seismographs - providing acceleration measurements - established at the basement (structure's foundation) presently considered as the ground's acceleration (excitation) and at all levels (ground floor, 1st floor, 2nd floor and terrace). Further details regarding the instrumentation setup and data acquisition may be found in [3]. The present study invokes stochastic, both non-parametric (frequency-based) and parametric methods for structural/modal identification (natural frequencies and/or damping ratios). Non-parametric methods include Welch-based spectrum and Frequency response Function (FrF) estimation, while parametric methods, include AutoRegressive (AR), AutoRegressive with eXogeneous input (ARX) and Autoregressive Moving-Average with eXogeneous input (ARMAX) models[4, 5

  16. Cancer driver gene discovery through an integrative genomics approach in a non-parametric Bayesian framework.

    Science.gov (United States)

    Yang, Hai; Wei, Qiang; Zhong, Xue; Yang, Hushan; Li, Bingshan

    2017-02-15

    Comprehensive catalogue of genes that drive tumor initiation and progression in cancer is key to advancing diagnostics, therapeutics and treatment. Given the complexity of cancer, the catalogue is far from complete yet. Increasing evidence shows that driver genes exhibit consistent aberration patterns across multiple-omics in tumors. In this study, we aim to leverage complementary information encoded in each of the omics data to identify novel driver genes through an integrative framework. Specifically, we integrated mutations, gene expression, DNA copy numbers, DNA methylation and protein abundance, all available in The Cancer Genome Atlas (TCGA) and developed iDriver, a non-parametric Bayesian framework based on multivariate statistical modeling to identify driver genes in an unsupervised fashion. iDriver captures the inherent clusters of gene aberrations and constructs the background distribution that is used to assess and calibrate the confidence of driver genes identified through multi-dimensional genomic data. We applied the method to 4 cancer types in TCGA and identified candidate driver genes that are highly enriched with known drivers. (e.g.: P < 3.40 × 10 -36 for breast cancer). We are particularly interested in novel genes and observed multiple lines of supporting evidence. Using systematic evaluation from multiple independent aspects, we identified 45 candidate driver genes that were not previously known across these 4 cancer types. The finding has important implications that integrating additional genomic data with multivariate statistics can help identify cancer drivers and guide the next stage of cancer genomics research. The C ++ source code is freely available at https://medschool.vanderbilt.edu/cgg/ . hai.yang@vanderbilt.edu or bingshan.li@Vanderbilt.Edu. Supplementary data are available at Bioinformatics online.

  17. Assessment of water quality trends in the Minnesota River using non-parametric and parametric methods

    Science.gov (United States)

    Johnson, H.O.; Gupta, S.C.; Vecchia, A.V.; Zvomuya, F.

    2009-01-01

    Excessive loading of sediment and nutrients to rivers is a major problem in many parts of the United States. In this study, we tested the non-parametric Seasonal Kendall (SEAKEN) trend model and the parametric USGS Quality of Water trend program (QWTREND) to quantify trends in water quality of the Minnesota River at Fort Snelling from 1976 to 2003. Both methods indicated decreasing trends in flow-adjusted concentrations of total suspended solids (TSS), total phosphorus (TP), and orthophosphorus (OP) and a generally increasing trend in flow-adjusted nitrate plus nitrite-nitrogen (NO3-N) concentration. The SEAKEN results were strongly influenced by the length of the record as well as extreme years (dry or wet) earlier in the record. The QWTREND results, though influenced somewhat by the same factors, were more stable. The magnitudes of trends between the two methods were somewhat different and appeared to be associated with conceptual differences between the flow-adjustment processes used and with data processing methods. The decreasing trends in TSS, TP, and OP concentrations are likely related to conservation measures implemented in the basin. However, dilution effects from wet climate or additional tile drainage cannot be ruled out. The increasing trend in NO3-N concentrations was likely due to increased drainage in the basin. Since the Minnesota River is the main source of sediments to the Mississippi River, this study also addressed the rapid filling of Lake Pepin on the Mississippi River and found the likely cause to be increased flow due to recent wet climate in the region. Copyright ?? 2009 by the American Society of Agronomy, Crop Science Society of America, and Soil Science Society of America. All rights reserved.

  18. Creative Activities in Music – A Genome-Wide Linkage Analysis

    Science.gov (United States)

    Oikkonen, Jaana; Kuusi, Tuire; Peltonen, Petri; Raijas, Pirre; Ukkola-Vuoti, Liisa; Karma, Kai; Onkamo, Päivi; Järvelä, Irma

    2016-01-01

    Creative activities in music represent a complex cognitive function of the human brain, whose biological basis is largely unknown. In order to elucidate the biological background of creative activities in music we performed genome-wide linkage and linkage disequilibrium (LD) scans in musically experienced individuals characterised for self-reported composing, arranging and non-music related creativity. The participants consisted of 474 individuals from 79 families, and 103 sporadic individuals. We found promising evidence for linkage at 16p12.1-q12.1 for arranging (LOD 2.75, 120 cases), 4q22.1 for composing (LOD 2.15, 103 cases) and Xp11.23 for non-music related creativity (LOD 2.50, 259 cases). Surprisingly, statistically significant evidence for linkage was found for the opposite phenotype of creative activity in music (neither composing nor arranging; NCNA) at 18q21 (LOD 3.09, 149 cases), which contains cadherin genes like CDH7 and CDH19. The locus at 4q22.1 overlaps the previously identified region of musical aptitude, music perception and performance giving further support for this region as a candidate region for broad range of music-related traits. The other regions at 18q21 and 16p12.1-q12.1 are also adjacent to the previously identified loci with musical aptitude. Pathway analysis of the genes suggestively associated with composing suggested an overrepresentation of the cerebellar long-term depression pathway (LTD), which is a cellular model for synaptic plasticity. The LTD also includes cadherins and AMPA receptors, whose component GSG1L was linked to arranging. These results suggest that molecular pathways linked to memory and learning via LTD affect music-related creative behaviour. Musical creativity is a complex phenotype where a common background with musicality and intelligence has been proposed. Here, we implicate genetic regions affecting music-related creative behaviour, which also include genes with neuropsychiatric associations. We also propose

  19. Creative Activities in Music--A Genome-Wide Linkage Analysis.

    Directory of Open Access Journals (Sweden)

    Jaana Oikkonen

    Full Text Available Creative activities in music represent a complex cognitive function of the human brain, whose biological basis is largely unknown. In order to elucidate the biological background of creative activities in music we performed genome-wide linkage and linkage disequilibrium (LD scans in musically experienced individuals characterised for self-reported composing, arranging and non-music related creativity. The participants consisted of 474 individuals from 79 families, and 103 sporadic individuals. We found promising evidence for linkage at 16p12.1-q12.1 for arranging (LOD 2.75, 120 cases, 4q22.1 for composing (LOD 2.15, 103 cases and Xp11.23 for non-music related creativity (LOD 2.50, 259 cases. Surprisingly, statistically significant evidence for linkage was found for the opposite phenotype of creative activity in music (neither composing nor arranging; NCNA at 18q21 (LOD 3.09, 149 cases, which contains cadherin genes like CDH7 and CDH19. The locus at 4q22.1 overlaps the previously identified region of musical aptitude, music perception and performance giving further support for this region as a candidate region for broad range of music-related traits. The other regions at 18q21 and 16p12.1-q12.1 are also adjacent to the previously identified loci with musical aptitude. Pathway analysis of the genes suggestively associated with composing suggested an overrepresentation of the cerebellar long-term depression pathway (LTD, which is a cellular model for synaptic plasticity. The LTD also includes cadherins and AMPA receptors, whose component GSG1L was linked to arranging. These results suggest that molecular pathways linked to memory and learning via LTD affect music-related creative behaviour. Musical creativity is a complex phenotype where a common background with musicality and intelligence has been proposed. Here, we implicate genetic regions affecting music-related creative behaviour, which also include genes with neuropsychiatric associations. We

  20. Creative Activities in Music--A Genome-Wide Linkage Analysis.

    Science.gov (United States)

    Oikkonen, Jaana; Kuusi, Tuire; Peltonen, Petri; Raijas, Pirre; Ukkola-Vuoti, Liisa; Karma, Kai; Onkamo, Päivi; Järvelä, Irma

    2016-01-01

    Creative activities in music represent a complex cognitive function of the human brain, whose biological basis is largely unknown. In order to elucidate the biological background of creative activities in music we performed genome-wide linkage and linkage disequilibrium (LD) scans in musically experienced individuals characterised for self-reported composing, arranging and non-music related creativity. The participants consisted of 474 individuals from 79 families, and 103 sporadic individuals. We found promising evidence for linkage at 16p12.1-q12.1 for arranging (LOD 2.75, 120 cases), 4q22.1 for composing (LOD 2.15, 103 cases) and Xp11.23 for non-music related creativity (LOD 2.50, 259 cases). Surprisingly, statistically significant evidence for linkage was found for the opposite phenotype of creative activity in music (neither composing nor arranging; NCNA) at 18q21 (LOD 3.09, 149 cases), which contains cadherin genes like CDH7 and CDH19. The locus at 4q22.1 overlaps the previously identified region of musical aptitude, music perception and performance giving further support for this region as a candidate region for broad range of music-related traits. The other regions at 18q21 and 16p12.1-q12.1 are also adjacent to the previously identified loci with musical aptitude. Pathway analysis of the genes suggestively associated with composing suggested an overrepresentation of the cerebellar long-term depression pathway (LTD), which is a cellular model for synaptic plasticity. The LTD also includes cadherins and AMPA receptors, whose component GSG1L was linked to arranging. These results suggest that molecular pathways linked to memory and learning via LTD affect music-related creative behaviour. Musical creativity is a complex phenotype where a common background with musicality and intelligence has been proposed. Here, we implicate genetic regions affecting music-related creative behaviour, which also include genes with neuropsychiatric associations. We also propose

  1. Genetic Linkage Map Construction and QTL Analysis of Two Interspecific Reproductive Isolation Traits in Sponge Gourd

    Science.gov (United States)

    Wu, Haibin; He, Xiaoli; Gong, Hao; Luo, Shaobo; Li, Mingzhu; Chen, Junqiu; Zhang, Changyuan; Yu, Ting; Huang, Wangping; Luo, Jianning

    2016-01-01

    The hybrids between Luffa acutangula (L.) Roxb. and L.cylindrica (L.) Roem. have strong heterosis effects. However, some reproductive isolation traits hindered their normal hybridization and fructification, which was mainly caused by the flowering time and hybrid pollen sterility. In order to study the genetic basis of two interspecific reproductive isolation traits, we constructed a genetic linkage map using an F2 population derived from a cross between S1174 [L. acutangula (L.) Roxb.] and 93075 [L. cylindrica (L.) Roem.]. The map spans 1436.12 CentiMorgans (cM), with an average of 8.11 cM among markers, and consists of 177 EST-SSR markers distributed in 14 linkage groups (LG) with an average of 102.58 cM per LG. Meanwhile, we conducted colinearity analysis between the sequences of EST-SSR markers and the genomic sequences of cucumber, melon and watermelon. On the basis of genetic linkage map, we conducted QTL mapping of two reproductive isolation traits in sponge gourd, which were the flowering time and hybrid male sterility. Two putative QTLs associated with flowering time (FT) were both detected on LG 1. The accumulated contribution of these two QTLs explained 38.07% of the total phenotypic variance (PV), and each QTL explained 15.36 and 22.71% of the PV respectively. Four QTLs for pollen fertility (PF) were identified on LG 1 (qPF1.1 and qPF1.2), LG 3 (qPF3) and LG 7 (qPF7), respectively. The percentage of PF explained by these QTLs varied from 2.91 to 16.79%, and all together the four QTLs accounted for 39.98% of the total PV. Our newly developed EST-SSR markers and linkage map are very useful for gene mapping, comparative genomics and molecular marker-assisted breeding. These QTLs for interspecific reproductive isolation will also contribute to the cloning of genes relating to interspecific reproductive isolation and the utilization of interspecific heterosis in sponge gourd in further studies. PMID:27458467

  2. Statistic Non-Parametric Methods of Measurement and Interpretation of Existing Statistic Connections within Seaside Hydro Tourism

    OpenAIRE

    MIRELA SECARĂ

    2008-01-01

    Tourism represents an important field of economic and social life in our country, and the main sector of the economy of Constanta County is the balneary touristic capitalization of Romanian seaside. In order to statistically analyze hydro tourism on Romanian seaside, we have applied non-parametric methods of measuring and interpretation of existing statistic connections within seaside hydro tourism. Major objective of this research is represented by hydro tourism re-establishment on Romanian ...

  3. Setting up Multiplex Panels for Genetic Testing of Familial Hy¬pertrophic Cardiomyopathy Based on Linkage Analysis

    Directory of Open Access Journals (Sweden)

    Hoorieh SAGHAFI

    2016-03-01

    Full Text Available Background: Familial hypertrophic cardiomyopathy (HCM is caused by mutations in genes encoding cardiac sarcomere proteins. Nowadays genetic testing of HCM plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. The aim of this study was developing a reliable testing strategy for HCM based on linkage analysis and appropriate for Iranian population.Methods: Six panels of four microsatellite markers surrounding MYH7, MYBPC3, TNNT2, TNNI3, TPM1, and MYL2 genes (24 markers in total were selected for multiplex PCR and fragment length analysis. Characteristics of markers and informativeness of the panels were evaluated in 50 unrelated Iranians. The efficacy of the strategy was verified in a family with HCM.Results: All markers were highly polymorphic. The panels were informative in 96-100% of samples. Multipoint linkage analysis excluded the linkage between the disease and all six genes by obtaining maximum LOD score ≤-2.Conclusion: This study suggests a reliable genetic testing method based on linkage analysis between 6 sarcomere genes and familial HCM. It could be applied for diagnostic, predictive, or screening testing in clinical setting. Keywords: Cardiomyopathy, Hypertrophic, Genetic linkage, Diagnosis 

  4. Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, L.S.; Hoffman, E.P. (Univ. of Pittsburgh Schoool of Medicine, Pittsburgh, PA (United States)); Tarleton, J. (Self Memorial Hospital, Greenwood, SC (United States)); Popovich, B. (Children' s Hosptial and Health Center, San Diego, CA (United States)); Seltzer, W.K. (Univ. of Colorado Health Sciences Center, Denver, CO (United States))

    1992-10-01

    The authors have developed a fast and accurate PCR-based linkage and carrier detection protocol for families of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients with or without detectable deletions of the dystrophin gene, using fluorescent PCR products analyzed on an automated sequencer. When a deletion is found in the affected male DMD/BMD patient by standard multiplex PCR, fluorescently labeled primers specific for the deleted and nondeleted exon(s) are used to amplify the DNA of at-risk female relatives by using multiplex PCR at low cycle number (20 cycles). The products are then quantitatively analyzed on an automatic sequencer to determine whether they are heterozygous for the deletion and thus are carriers. As a confirmation of the deletion data, and in cases in which a deletion is not found in the proband, fluorescent multiplex PCR linkage is done by using four previously described polymorphic dinucleotide sequences. The four (CA)[sub n] repeats are located throughout the dystrophin gene, making the analysis highly informative and accurate. The authors present the successful application of this protocol in families who proved refractory to more traditional analyses. 22 refs., 3 figs.

  5. Parametric modeling of DSC-MRI data with stochastic filtration and optimal input design versus non-parametric modeling.

    Science.gov (United States)

    Kalicka, Renata; Pietrenko-Dabrowska, Anna

    2007-03-01

    In the paper MRI measurements are used for assessment of brain tissue perfusion and other features and functions of the brain (cerebral blood flow - CBF, cerebral blood volume - CBV, mean transit time - MTT). Perfusion is an important indicator of tissue viability and functioning as in pathological tissue blood flow, vascular and tissue structure are altered with respect to normal tissue. MRI enables diagnosing diseases at an early stage of their course. The parametric and non-parametric approaches to the identification of MRI models are presented and compared. The non-parametric modeling adopts gamma variate functions. The parametric three-compartmental catenary model, based on the general kinetic model, is also proposed. The parameters of the models are estimated on the basis of experimental data. The goodness of fit of the gamma variate and the three-compartmental models to the data and the accuracy of the parameter estimates are compared. Kalman filtering, smoothing the measurements, was adopted to improve the estimate accuracy of the parametric model. Parametric modeling gives a better fit and better parameter estimates than non-parametric and allows an insight into the functioning of the system. To improve the accuracy optimal experiment design related to the input signal was performed.

  6. Non-parametric kernel density estimation of species sensitivity distributions in developing water quality criteria of metals.

    Science.gov (United States)

    Wang, Ying; Wu, Fengchang; Giesy, John P; Feng, Chenglian; Liu, Yuedan; Qin, Ning; Zhao, Yujie

    2015-09-01

    Due to use of different parametric models for establishing species sensitivity distributions (SSDs), comparison of water quality criteria (WQC) for metals of the same group or period in the periodic table is uncertain and results can be biased. To address this inadequacy, a new probabilistic model, based on non-parametric kernel density estimation was developed and optimal bandwidths and testing methods are proposed. Zinc (Zn), cadmium (Cd), and mercury (Hg) of group IIB of the periodic table are widespread in aquatic environments, mostly at small concentrations, but can exert detrimental effects on aquatic life and human health. With these metals as target compounds, the non-parametric kernel density estimation method and several conventional parametric density estimation methods were used to derive acute WQC of metals for protection of aquatic species in China that were compared and contrasted with WQC for other jurisdictions. HC5 values for protection of different types of species were derived for three metals by use of non-parametric kernel density estimation. The newly developed probabilistic model was superior to conventional parametric density estimations for constructing SSDs and for deriving WQC for these metals. HC5 values for the three metals were inversely proportional to atomic number, which means that the heavier atoms were more potent toxicants. The proposed method provides a novel alternative approach for developing SSDs that could have wide application prospects in deriving WQC and use in assessment of risks to ecosystems.

  7. Validation of two (parametric vs non-parametric) daily weather generators

    Science.gov (United States)

    Dubrovsky, M.; Skalak, P.

    2015-12-01

    As the climate models (GCMs and RCMs) fail to satisfactorily reproduce the real-world surface weather regime, various statistical methods are applied to downscale GCM/RCM outputs into site-specific weather series. The stochastic weather generators are among the most favourite downscaling methods capable to produce realistic (observed-like) meteorological inputs for agrological, hydrological and other impact models used in assessing sensitivity of various ecosystems to climate change/variability. To name their advantages, the generators may (i) produce arbitrarily long multi-variate synthetic weather series representing both present and changed climates (in the latter case, the generators are commonly modified by GCM/RCM-based climate change scenarios), (ii) be run in various time steps and for multiple weather variables (the generators reproduce the correlations among variables), (iii) be interpolated (and run also for sites where no weather data are available to calibrate the generator). This contribution will compare two stochastic daily weather generators in terms of their ability to reproduce various features of the daily weather series. M&Rfi is a parametric generator: Markov chain model is used to model precipitation occurrence, precipitation amount is modelled by the Gamma distribution, and the 1st order autoregressive model is used to generate non-precipitation surface weather variables. The non-parametric GoMeZ generator is based on the nearest neighbours resampling technique making no assumption on the distribution of the variables being generated. Various settings of both weather generators will be assumed in the present validation tests. The generators will be validated in terms of (a) extreme temperature and precipitation characteristics (annual and 30-years extremes and maxima of duration of hot/cold/dry/wet spells); (b) selected validation statistics developed within the frame of VALUE project. The tests will be based on observational weather series

  8. Linkage analysis of 19 French breast cancer families, with five chromosome 17q markers.

    OpenAIRE

    Mazoyer, S; Lalle, P.; Narod, S. A.; Bignon, Y J; Courjal, F; Jamot, B.; Dutrillaux, B.; Stoppa-Lyonnett, D; Sobol, H

    1993-01-01

    Nineteen French breast and breast-ovarian cancer families were tested for linkage with five chromosome 17q markers. The five breast-ovarian cancer families as a group give positive evidence for linkage, whereas the 14 breast cancer-only families do not. Heterogeneity of linkage of breast and breast-ovarian cancers is significant in France and supports the existence of more than one susceptibility gene.

  9. Genome-Wide Linkage Analysis Identifies Loci for Physical Appearance Traits in Chickens.

    Science.gov (United States)

    Sun, Yanfa; Liu, Ranran; Zhao, Guiping; Zheng, Maiqing; Sun, Yan; Yu, Xiaoqiong; Li, Peng; Wen, Jie

    2015-08-06

    Physical appearance traits, such as feather-crested head, comb size and type, beard, wattles size, and feathered feet, are used to distinguish between breeds of chicken and also may be associated with economic traits. In this study, a genome-wide linkage analysis was used to identify candidate regions and genes for physical appearance traits and to potentially provide further knowledge of the molecular mechanisms that underlie these traits. The linkage analysis was conducted with an F2 population derived from Beijing-You chickens and a commercial broiler line. Single-nucleotide polymorphisms were analyzed using the Illumina 60K Chicken SNP Beadchip. The data were used to map quantitative trait loci and genes for six physical appearance traits. A 10-cM/0.51-Mb region (0.0-10.0 cM/0.00-0.51 Mb) with 1% genome-wide significant level on LGE22C19W28_E50C23 linkage group (LGE22) for crest trait was identified, which is likely very closely linked to the HOXC8. A QTL with 5% chromosome-wide significant level for comb weight, which partly overlaps with a region identified in a previous study, was identified at 74 cM/25.55 Mb on chicken (Gallus gallus; GG) chromosome 3 (i.e., GGA3). For beard and wattles traits, an identical region 11 cM/2.23 Mb (0.0-11.0 cM/0.00-2.23 Mb) including WNT3 and GH genes on GGA27 was identified. Two QTL with 1% genome-wide significant level for feathered feet trait, one 9-cM/2.80-Mb (48.0-57.0/13.40-16.20 Mb) region on GGA13, and another 12-cM/1.45-Mb (41.0-53.0 cM/11.37-12.82 Mb) region on GGA15 were identified. These candidate regions and genes provide important genetic information for the physical appearance traits in chicken. Copyright © 2015 Sun et al.

  10. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

    Science.gov (United States)

    Hu, Hao; Roach, Jared C; Coon, Hilary; Guthery, Stephen L; Voelkerding, Karl V; Margraf, Rebecca L; Durtschi, Jacob D; Tavtigian, Sean V; Shankaracharya; Wu, Wilfred; Scheet, Paul; Wang, Shuoguo; Xing, Jinchuan; Glusman, Gustavo; Hubley, Robert; Li, Hong; Garg, Vidu; Moore, Barry; Hood, Leroy; Galas, David J; Srivastava, Deepak; Reese, Martin G; Jorde, Lynn B; Yandell, Mark; Huff, Chad D

    2014-07-01

    High-throughput sequencing of related individuals has become an important tool for studying human disease. However, owing to technical complexity and lack of available tools, most pedigree-based sequencing studies rely on an ad hoc combination of suboptimal analyses. Here we present pedigree-VAAST (pVAAST), a disease-gene identification tool designed for high-throughput sequence data in pedigrees. pVAAST uses a sequence-based model to perform variant and gene-based linkage analysis. Linkage information is then combined with functional prediction and rare variant case-control association information in a unified statistical framework. pVAAST outperformed linkage and rare-variant association tests in simulations and identified disease-causing genes from whole-genome sequence data in three human pedigrees with dominant, recessive and de novo inheritance patterns. The approach is robust to incomplete penetrance and locus heterogeneity and is applicable to a wide variety of genetic traits. pVAAST maintains high power across studies of monogenic, high-penetrance phenotypes in a single pedigree to highly polygenic, common phenotypes involving hundreds of pedigrees.

  11. Gestão da inovação e capacidade competitiva: uma análise não paramétrica no setor cerâmico de Campos dos Goytacazes, RJ Innovation management and competitive capacity: a non-parametric analysis in the red ceramic sector of Campos dos Goytacazes, RJ, Brazil

    Directory of Open Access Journals (Sweden)

    A. F. Rocha

    2012-06-01

    applied to the companies' managers, people who were familiar with the business. Data collected were analyzed using content analysis in order to identify variables and factors necessary to construct a questionnaire. A survey research was conducted and these data were analyzed using nonparametric techniques to ratify the initial information, and to identify possible relationships among variables. The level of agreement among the answers furnished by the 20 companies studied was checked using Kendall concordance coefficient. The level of novelty was found low in the Campos dos Goytacazes Red Ceramic Cluster. This deficiency originate from factors such as unskilled labor, lack of innovative vision, low cooperation, lack of incentives and programs to encourage innovation.

  12. Genetic linkage map and comparative genome analysis for the estuarine Atlantic killifish (Fundulus heteroclitus)

    Data.gov (United States)

    U.S. Environmental Protection Agency — Genetic linkage maps are valuable tools in evolutionary biology; however, their availability for wild populations is extremely limited. Fundulus heteroclitus...

  13. Late onset autosomal dominant cerebellar ataxia a family description and linkage analysis with the hla system

    Directory of Open Access Journals (Sweden)

    Walter O. Arruda

    1991-09-01

    Full Text Available A family suffering an autosomal dominant form of late onset hereditary cerebellar ataxia is described. Eight affected family members were personally studied, and data from another four were obtained through anamnesis. The mean age of onset was 37.1±5.4 years (27-47 years. The clinical picture consisted basically of a pure ataxic cerebellar syndrome. CT-scan disclosed diffuse cerebellar atrophy with relative sparing of the brainstem (and no involvement of supratentorial structures. Neurophysiological studies (nerve conduction, VEP and BAEP were normal. Twenty-six individuals were typed for HLA histocompatibility antigens. Lod scores were calculated with the computer program LINKMAP. Close linkage of the ataxia gene with the HLA system in this family could be excluded - 0==0,02, z=(-2,17 - and the overall analysis of the lod scores suggest another chromossomal location than chromosome 6.

  14. Linkage Analysis of Genomic Regions Contributing to the Expression of Type 1 Diabetes Microvascular Complications and Interaction with HLA

    Directory of Open Access Journals (Sweden)

    Ettie M. Lipner

    2015-01-01

    Full Text Available We conducted linkage analysis to follow up earlier work on microvascular complications of type 1 diabetes (T1D. We analyzed 415 families (2,008 individuals previously genotyped for 402 SNP markers spanning chromosome 6. We did linkage analysis for the phenotypes of retinopathy and nephropathy. For retinopathy, two linkage peaks were mapped: one located at the HLA region and another novel locus telomeric to HLA. For nephropathy, a linkage peak centromeric to HLA was mapped, but the linkage peak telomeric to HLA seen in retinopathy was absent. Because of the strong association of T1D with DRB1*03:01 and DRB1*04:01, we stratified our analyses based on families whose probands were positive for DRB1*03:01 or DRB1*04:01. When analyzing the DRB1*03:01-positive retinopathy families, in addition to the novel telomeric locus, one centromeric to HLA was identified at the same location as the nephropathy peak. When we stratified on DRB1*04:01-positive families, the HLA telomeric peak strengthened but the centromeric peak disappeared. Our findings showed that HLA and non-HLA loci on chromosome 6 are involved in T1D complications’ expression. While the HLA region is a major contributor to the expression of T1D, our results suggest an interaction between specific HLA alleles and other loci that influence complications’ expression.

  15. Non-parametric Bayesian approach to post-translational modification refinement of predictions from tandem mass spectrometry.

    Science.gov (United States)

    Chung, Clement; Emili, Andrew; Frey, Brendan J

    2013-04-01

    Tandem mass spectrometry (MS/MS) is a dominant approach for large-scale high-throughput post-translational modification (PTM) profiling. Although current state-of-the-art blind PTM spectral analysis algorithms can predict thousands of modified peptides (PTM predictions) in an MS/MS experiment, a significant percentage of these predictions have inaccurate modification mass estimates and false modification site assignments. This problem can be addressed by post-processing the PTM predictions with a PTM refinement algorithm. We developed a novel PTM refinement algorithm, iPTMClust, which extends a recently introduced PTM refinement algorithm PTMClust and uses a non-parametric Bayesian model to better account for uncertainties in the quantity and identity of PTMs in the input data. The use of this new modeling approach enables iPTMClust to provide a confidence score per modification site that allows fine-tuning and interpreting resulting PTM predictions. The primary goal behind iPTMClust is to improve the quality of the PTM predictions. First, to demonstrate that iPTMClust produces sensible and accurate cluster assignments, we compare it with k-means clustering, mixtures of Gaussians (MOG) and PTMClust on a synthetically generated PTM dataset. Second, in two separate benchmark experiments using PTM data taken from a phosphopeptide and a yeast proteome study, we show that iPTMClust outperforms state-of-the-art PTM prediction and refinement algorithms, including PTMClust. Finally, we illustrate the general applicability of our new approach on a set of human chromatin protein complex data, where we are able to identify putative novel modified peptides and modification sites that may be involved in the formation and regulation of protein complexes. Our method facilitates accurate PTM profiling, which is an important step in understanding the mechanisms behind many biological processes and should be an integral part of any proteomic study. Our algorithm is implemented in

  16. The Effects of Minimum Wages on the Distribution of Family Incomes: A Non-Parametric Analysis

    OpenAIRE

    David Neumark; Mark Schweitzer; William Wascher

    1998-01-01

    The primary goal of a national minimum wage floor is to raise the incomes of poor or near-poor families with members in the work force. However, estimates of employment effects of minimum wages tell us relatively little about whether minimum wages are likely to achieve this goal; even if the disemployment effects of minimum wages are modest, minimum wage increases could result in net income losses for poor and low-income families. In this paper, we present evidence on the effects of minimum w...

  17. Applying a non-parametric efficiency analysis to measure conversion efficiency in Great Britain

    NARCIS (Netherlands)

    Binder, M.; Broekel, T.

    2011-01-01

    In the literature on Sen's capability approach, studies focusing on the empirical measurement of conversion factors are comparatively rare. We add to this field by adopting a measure of 'conversion efficiency' that captures the efficiency with which individuals convert their resources into achieved

  18. Applying a non-parametric efficiency analysis to measure conversion efficiency in Great Britain

    NARCIS (Netherlands)

    Binder, M.; Broekel, T.

    2011-01-01

    In the literature on Sen's capability approach, studies focusing on the empirical measurement of conversion factors are comparatively rare. We add to this field by adopting a measure of 'conversion efficiency' that captures the efficiency with which individuals convert their resources into achieved

  19. Productivity improvement in Korean rice farming: parametric and non-parametric analysis

    OpenAIRE

    Kwon, Oh Sang; Lee, Hyunok

    2004-01-01

    The published empirical literature on frontier production functions is dominated by two broadly defined estimation approaches – parametric and non‐parametric. Using panel data on Korean rice production, parametric and non‐parametric production frontiers are estimated and compared with estimated productivity. The non‐parametric approach employs two alternative measures based on the Malmquist index and the Luenberger indicator, while the parametric approach is closely related to the time‐varian...

  20. Bayesian analysis of energy balance data from growing cattle using parametric and non-parametric modelling

    NARCIS (Netherlands)

    Moraes, L.E.; Kebreab, E.; Strathe, A.B.; France, J.; Dijkstra, J.; Casper, D.; Fadel, J.G.

    2014-01-01

    Linear and non-linear models have been extensively utilised for the estimation of net and metabolisable energy requirements and for the estimation of the efficiencies of utilising dietary energy for maintenance and tissue gain. In growing animals, biological principles imply that energy retention ra

  1. Polymorphism analysis of microsatellites and construction of linkage map in part regions of four chromosomes in chicken

    Institute of Scientific and Technical Information of China (English)

    WANG Shouzhi; LI Hui; LI Ning; GAO Yu; DU Zhiqiang; GU Zhiliang; WANG Qigui; LI Zhihui; WANG Ying

    2007-01-01

    Based on chicken' consensus map issued in 2000, 17 microsatellites near 4 candidate genes such as IGF2, OBR, GDFS and APOA1 in 4 chromosomes (chromosome 5, 7, 8 and 24) were chosen for polymorphism analysis and construction of linkage map. Combining the technique of PCR and the fluorescent semi-automated detection, genome scanning was performed for 440 chickens, which was derived from China Agricultural University chicken resource families within three generations. The individuals of this resource families were genotyped. The results showed that the number of alleles ranged from 4 to 14; heterozygosity (H) of markers was between 0.3116 and 0.9148. Polymorphic information content (PIC) varied from 0.2672 to 0.8679. Microsatellites along with above-mentioned 4 candidate genes doing as general markers were used to construct linkage map. The spans of 4 linkage maps constructed in the part region of chromosome 5, 7, 8 and 24 were 263.5, 79.9, 206.2 and 104.2 cM, respectively. The order of markers was consistent with that of counterpart of reported consensus map. However, The spans of linkage map were larger than that of consensus map. The constructed linkage maps laid the foundation for mapping quantitative trait loci (QTL) responsible for economically important traits in chicken.

  2. Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder

    NARCIS (Netherlands)

    Zhou, Kaixin; Dempfle, Astrid; Arcos-Burgos, Mauricio; Bakker, Steven C; Banaschewski, Tobias; Biederman, Joseph; Buitelaar, Jan; Castellanos, F Xavier; Doyle, Alysa; Ebstein, Richard P; Ekholm, Jenny; Forabosco, Paola; Franke, Barbara; Freitag, Christine; Friedel, Susann; Gill, Michael; Hebebrand, Johannes; Hinney, Anke; Jacob, Christian; Lesch, Klaus Peter; Loo, Sandra K; Lopera, Francisco; McCracken, James T; McGough, James J; Meyer, Jobst; Mick, Eric; Miranda, Ana; Muenke, Maximilian; Mulas, Fernando; Nelson, Stanley F; Nguyen, T Trang; Oades, Robert D; Ogdie, Matthew N; Palacio, Juan David; Pineda, David; Reif, Andreas; Renner, Tobias J; Roeyers, Herbert; Romanos, Marcel; Rothenberger, Aribert; Schäfer, Helmut; Sergeant, Joseph; Sinke, Richard J; Smalley, Susan L; Sonuga-Barke, Edmund; Steinhausen, Hans-Christoph; van der Meulen, Emma; Walitza, Susanne; Warnke, Andreas; Lewis, Cathryn M; Faraone, Stephen V; Asherson, Philip

    2008-01-01

    Genetic contribution to the development of attention deficit hyperactivity disorder (ADHD) is well established. Seven independent genome-wide linkage scans have been performed to map loci that increase the risk for ADHD. Although significant linkage signals were identified in some of the studies, th

  3. Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

    Science.gov (United States)

    Rosenthal, Elisabeth A; Ranchalis, Jane; Crosslin, David R; Burt, Amber; Brunzell, John D; Motulsky, Arno G; Nickerson, Deborah A; Wijsman, Ellen M; Jarvik, Gail P

    2013-12-01

    Hypertriglyceridemia (HTG) is a heritable risk factor for cardiovascular disease. Investigating the genetics of HTG may identify new drug targets. There are ~35 known single-nucleotide variants (SNVs) that explain only ~10% of variation in triglyceride (TG) level. Because of the genetic heterogeneity of HTG, a family study design is optimal for identification of rare genetic variants with large effect size because the same mutation can be observed in many relatives and cosegregation with TG can be tested. We considered HTG in a five-generation family of European American descent (n = 121), ascertained for familial combined hyperlipidemia. By using Bayesian Markov chain Monte Carlo joint oligogenic linkage and association analysis, we detected linkage to chromosomes 7 and 17. Whole-exome sequence data revealed shared, highly conserved, private missense SNVs in both SLC25A40 on chr7 and PLD2 on chr17. Jointly, these SNVs explained 49% of the genetic variance in TG; however, only the SLC25A40 SNV was significantly associated with TG (p = 0.0001). This SNV, c.374A>G, causes a highly disruptive p.Tyr125Cys substitution just outside the second helical transmembrane region of the SLC25A40 inner mitochondrial membrane transport protein. Whole-gene testing in subjects from the Exome Sequencing Project confirmed the association between TG and SLC25A40 rare, highly conserved, coding variants (p = 0.03). These results suggest a previously undescribed pathway for HTG and illustrate the power of large pedigrees in the search for rare, causal variants.

  4. Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis

    Directory of Open Access Journals (Sweden)

    Fardeen Ali Malayeri

    2011-03-01

    Full Text Available This study determines the value of linkage analysis using six RFLP markers for carrier detection and prenatal diagnosis in familial DMD/BMD cases and their family members for the first time in the Iranian population. We studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of DMD or BMD. Subsequently, we determined the rate of heterozygosity for six intragenic RFLP markers in the mothers of patients with dystrophin gene deletions. Finally, we studied the efficiency of linkage analysis by using RFLP markers for carrier status detection of DMD/BMD. In 63.6% of the patients we found one or more deletions. The most common heterozygous RFLP marker with 57.1% heterozygosity was pERT87.15Taq1. More than 80% of mothers in two groups of familial or non-familial cases had at least two heterozygous markers. Family linkage analysis was informative in more than 80% of the cases, allowing for accurate carrier detection. We found that linkage analysis using these six RFLP markers for carrier detection and prenatal diagnosis is a rapid, easy, reliable, and inexpensive method, suitable for most routine diagnostic services. The heterozygosity frequency of these markers is high enough in the Iranian population to allow carrier detection and prenatal diagnosis of DMD/BMD in more than 80% of familial cases in Iran.

  5. Construction of high-quality recombination maps with low-coverage genomic sequencing for joint linkage analysis in maize

    Science.gov (United States)

    A genome-wide association study (GWAS) is the foremost strategy used for finding genes that control human diseases and agriculturally important traits, but it often reports false positives. In contrast, its complementary method, linkage analysis, provides direct genetic confirmation, but with limite...

  6. Scaling of preferential flow in biopores by parametric or non parametric transfer functions

    Science.gov (United States)

    Zehe, E.; Hartmann, N.; Klaus, J.; Palm, J.; Schroeder, B.

    2009-04-01

    finally assign the measured hydraulic capacities to these pores. By combining this population of macropores with observed data on soil hydraulic properties we obtain a virtual reality. Flow and transport is simulated for different rainfall forcings comparing two models, Hydrus 3d and Catflow. The simulated cumulative travel depths distributions for different forcings will be linked to the cumulative depth distribution of connected flow paths. The latter describes the fraction of connected paths - where flow resistance is always below a selected threshold that links the surface to a certain critical depth. Systematic variation of the average number of macropores and their depth distributions will show whether a clear link between the simulated travel depths distributions and the depth distribution of connected paths may be identified. The third essential step is to derive a non parametric transfer function that predicts travel depth distributions of tracers and on the long term pesticides based on easy-to-assess subsurface characteristics (mainly density and depth distribution of worm burrows, soil matrix properties), initial conditions and rainfall forcing. Such a transfer function is independent of scale ? as long as we stay in the same ensemble i.e. worm population and soil properties stay the same. Shipitalo, M.J. and Butt, K.R. (1999): Occupancy and geometrical properties of Lumbricus terrestris L. burrows affecting infiltration. Pedobiologia 43:782-794 Zehe E, and Fluehler H. (2001b): Slope scale distribution of flow patterns in soil profiles. J. Hydrol. 247: 116-132.

  7. 污染线性模型的非参数估计%NON-PARAMETRIC ESTIMATION IN CONTAMINATED LINEAR MODEL

    Institute of Scientific and Technical Information of China (English)

    柴根象; 孙燕; 杨筱菡

    2001-01-01

    In this paper, the following contaminated linear model is considered: yi=(1-ε)xτiβ+zi, 1≤i≤n, where r.v.'s {yi} are contaminated with errors {zi}. To assume that the errors have the finite moment of order 2 only. The non-parametric estimation of contaminated coefficient ε and regression parameter β are established, and the strong consistency and convergence rate almost surely of the estimators are obtained. A simulated example is also given to show the visual performance of the estimations.

  8. Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1

    Energy Technology Data Exchange (ETDEWEB)

    Bisceglia, L.; Totaro, A.; Melchionda, S. [and others

    1997-03-01

    Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes (I, II, and III) have been described. An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. Mutational and linkage analysis demonstrated the presence of genetic heterogeneity in which the SLC3A1 gene is responsible for type I cystinuria but not for type II or type III. In this study, we report the identification of the cystinuria type III locus on the long arm of chromosome 19 (19q13.1), obtained after a genomewide search. Pairwise linkage analysis in a series of type III or type II families previously excluded from linkage to the cystinuria type I locus (SLC3A1 gene) revealed a significant maximum LOD score (Z{sub max}) of 13.11 at a maximum recombination fraction ({theta}{sub max}) of .00, with marker D19S225. Multipoint linkage analysis performed with the use of additional markers from the region placed the cystinuria type III locus between D19S414 and D19S220. Preliminary data on type II families also seem to place the disease locus for this rare type of cystinuria at 19q13.1 (significant Z{sub max} = 3.11 at {theta}{sub max} of .00, with marker D19S225). 33 refs., 2 figs., 1 tab.

  9. Genetic linkage of bipolar disorder to chromosome 6q22 is a consistent finding in Portuguese subpopulations and may generalize to broader populations.

    Science.gov (United States)

    Pato, Carlos N; Middleton, Frank A; Gentile, Karen L; Morley, Christopher P; Medeiros, Helena; Macedo, Antonio; Azevedo, M Helena; Pato, Michele T

    2005-04-05

    We recently reported genome-wide significant linkage to chromosome 6q for bipolar disorder, in a study of 25 Portuguese families, using the Human Mapping Assay Xba 131 (HMA10K). To explore the generalizability of this finding, we reanalyzed our SNP linkage data according to the families' geographic origin. Specifically, the 25 families included 20 families from the Portuguese island collection (PIC; 15 families from the Azores Islands and 5 from the Madeira Islands) and 5 families from continental Portugal. Non-parametric linkage analysis (NPL) was performed as previously described and indicated that each of these subpopulations showed evidence of linkage for the same region. To further address the potential generalizability of these findings to other populations, we have also examined allelic heterozygosity in our subpopulations and in three reference populations (Caucasian, East Asian, and African-American). This analysis indicated that the PIC population is highly correlated to the Caucasian reference population (R = 0.86) for all of chromosome 6. In contrast allelic heterozygosity was more weakly correlated between PIC and both East Asian (R = 0.37) and African-American (R = 0.32) reference populations. Taken together these observations suggest a shared genetic liability among Portuguese populations for bipolar disorder on chromosome 6q, and that the PIC population is likely representative of Caucasians in general. Copyright 2005 Wiley-Liss, Inc.

  10. Analysis of stock market linkages: evidence from the selected CEE markets

    Directory of Open Access Journals (Sweden)

    Michaela Chocholatá

    2013-04-01

    Full Text Available This paper analyses the stock market linkages of the selected Central and Eastern European (CEE markets (Czech Republic – PX, Hungary – BUX and Poland – WIG20 with the Western European stock market represented by the German DAX and studies also the co-movement between the individual CEE countries’ stock markets. The dynamic conditional correlation (DCC models were used to model the co-movements and thereafter in some cases the smooth transition analysis was carried out in order to capture how these correla-tions evolve over time. The analysis was based on weekly data over the sample period Jan-uary 3rd, 1997 – November 29th, 2013 (883 observations. In the first step the asymmetric univariate autoregressive conditional heteroscedasticity model of Glosten, Jagannathan and Runkle (GJR was estimated for individual stock return series. The results of the DCC-GJR models estimated in the next step show almost in all analysed cases the increasing lev-el of conditional correlations. In four cases (BUX_DAX, WIG20_DAX, BUX_PX and PX_WIG20 the DCC series were identified to be nonstationary – I(1 and nonlinear lo-gistic smooth transition regression (LSTR model was used to capture the gradual transi-tion towards greater co-movements and to find out if the increasing level of DCC could be attributed to the accession of these countries into the European Union (EU in May 2004.

  11. Subsidiary Linkage Patterns

    DEFF Research Database (Denmark)

    Perri, Alessandra; Andersson, Ulf; Nell, Phillip C.;

    This paper investigates local vertical linkages of foreign subsidiaries and the dual role of such linkages as conduits for learning as well as potential channels for spillovers to competitors. On the basis of data from 97 subsidiaries, we analyze the quality of such linkages under varying levels...... of competition and subsidiary capabilities. Our theoretical development and the results from the analysis document a far more complex and dynamic relationship between levels of competition and MNCs’ local participation in knowledge intensive activities, i.e. learning and spillovers, than previous studies do. We...

  12. Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs.

    Science.gov (United States)

    Benyamin, Beben; Perola, Markus; Cornes, Belinda K; Madden, Pamela Af; Palotie, Aarno; Nyholt, Dale R; Montgomery, Grant W; Peltonen, Leena; Martin, Nicholas G; Visscher, Peter M

    2008-04-01

    Most information in linkage analysis for quantitative traits comes from pairs of relatives that are phenotypically most discordant or concordant. Confounding this, within-family outliers from non-genetic causes may create false positives and negatives. We investigated the influence of within-family outliers empirically, using one of the largest genome-wide linkage scans for height. The subjects were drawn from Australian twin cohorts consisting of 8447 individuals in 2861 families, providing a total of 5815 possible pairs of siblings in sibships. A variance component linkage analysis was performed, either including or excluding the within-family outliers. Using the entire dataset, the largest LOD scores were on chromosome 15q (LOD 2.3) and 11q (1.5). Excluding within-family outliers increased the LOD score for most regions, but the LOD score on chromosome 15 decreased from 2.3 to 1.2, suggesting that the outliers may create false negatives and false positives, although rare alleles of large effect may also be an explanation. Several regions suggestive of linkage to height were found after removing the outliers, including 1q23.1 (2.0), 3q22.1 (1.9) and 5q32 (2.3). We conclude that the investigation of the effect of within-family outliers, which is usually neglected, should be a standard quality control measure in linkage analysis for complex traits and may reduce the noise for the search of common variants of modest effect size as well as help identify rare variants of large effect and clinical significance. We suggest that the effect of within-family outliers deserves further investigation via theoretical and simulation studies.

  13. On The Robustness of z=0-1 Galaxy Size Measurements Through Model and Non-Parametric Fits

    CERN Document Server

    Mosleh, Moein; Franx, Marijn

    2013-01-01

    We present the size-stellar mass relations of nearby (z=0.01-0.02) SDSS galaxies, for samples selected by color, morphology, Sersic index n, and specific star formation rate. Several commonly-employed size measurement techniques are used, including single Sersic fits, two-component Sersic models and a non-parametric method. Through simple simulations we show that the non-parametric and two-component Sersic methods provide the most robust effective radius measurements, while those based on single Sersic profiles are often overestimates, especially for massive red/early-type galaxies. Using our robust sizes, we show that for all sub-samples, the mass-size relations are shallow at low stellar masses and steepen above ~3-4 x 10^{10}\\Msun. The mass-size relations for galaxies classified as late-type, low-n, and star-forming are consistent with each other, while blue galaxies follow a somewhat steeper relation. The mass-size relations of early-type, high-n, red, and quiescent galaxies all agree with each other but ...

  14. Further Empirical Results on Parametric Versus Non-Parametric IRT Modeling of Likert-Type Personality Data.

    Science.gov (United States)

    Maydeu-Olivares, Albert

    2005-04-01

    Chernyshenko, Stark, Chan, Drasgow, and Williams (2001) investigated the fit of Samejima's logistic graded model and Levine's non-parametric MFS model to the scales of two personality questionnaires and found that the graded model did not fit well. We attribute the poor fit of the graded model to small amounts of multidimensionality present in their data. To verify this conjecture, we compare the fit of these models to the Social Problem Solving Inventory-Revised, whose scales were designed to be unidimensional. A calibration and a cross-validation sample of new observations were used. We also included the following parametric models in the comparison: Bock's nominal model, Masters' partial credit model, and Thissen and Steinberg's extension of the latter. All models were estimated using full information maximum likelihood. We also included in the comparison a normal ogive model version of Samejima's model estimated using limited information estimation. We found that for all scales Samejima's model outperformed all other parametric IRT models in both samples, regardless of the estimation method employed. The non-parametric model outperformed all parametric models in the calibration sample. However, the graded model outperformed MFS in the cross-validation sample in some of the scales. We advocate employing the graded model estimated using limited information methods in modeling Likert-type data, as these methods are more versatile than full information methods to capture the multidimensionality that is generally present in personality data.

  15. Evaluation of model-based versus non-parametric monaural noise-reduction approaches for hearing aids.

    Science.gov (United States)

    Harlander, Niklas; Rosenkranz, Tobias; Hohmann, Volker

    2012-08-01

    Single channel noise reduction has been well investigated and seems to have reached its limits in terms of speech intelligibility improvement, however, the quality of such schemes can still be advanced. This study tests to what extent novel model-based processing schemes might improve performance in particular for non-stationary noise conditions. Two prototype model-based algorithms, a speech-model-based, and a auditory-model-based algorithm were compared to a state-of-the-art non-parametric minimum statistics algorithm. A speech intelligibility test, preference rating, and listening effort scaling were performed. Additionally, three objective quality measures for the signal, background, and overall distortions were applied. For a better comparison of all algorithms, particular attention was given to the usage of the similar Wiener-based gain rule. The perceptual investigation was performed with fourteen hearing-impaired subjects. The results revealed that the non-parametric algorithm and the auditory model-based algorithm did not affect speech intelligibility, whereas the speech-model-based algorithm slightly decreased intelligibility. In terms of subjective quality, both model-based algorithms perform better than the unprocessed condition and the reference in particular for highly non-stationary noise environments. Data support the hypothesis that model-based algorithms are promising for improving performance in non-stationary noise conditions.

  16. Linkage analysis and physical mapping near the gene for x-linked agammaglobulinemia at Xq22

    Energy Technology Data Exchange (ETDEWEB)

    Parolini, O.; Lassiter, G.L.; Henry, M.J.; Conley, M.E. (Univ. of Tennessee College of Medicine, Memphis (United States) St. Jude Children' s Research Hospital, Memphis, TN (United States)); Hejtmancik, J.F. (National Inst. of Health, Bethesda, MD (United States)); Allen, R.C.; Belmont, J.W. (Baylor College of Medicine, Houston, TX (United States)); Barker, D.F. (Univ. of Utah, Salt Lake City (United States))

    1993-02-01

    The gene for x-linked agammaglobulinemia (XLA) has been mapped to Xq22. No recombinations have been reported between the gene and the prob p212 at DXS178; however, this probe is informative in only 30-40% of women and the reported flanking markers, DXS3 and DXS94, and 10-15 cM apart. To identify additional probes that might be useful in genetic counseling, we examined 11 polymorphisms that have been mapped to the Xq21.3-q22 region in 13 families with XLA. In addition, pulsed-field gel electrophoresis and yeast artificial chromosomes (YACs) were used to further characterize the segman of DNA within which the gene for SLA must lie. The results demonstrated that DXS366 and DXS442, which share a 430-kb pulsed-field fragment, could replace DXS3 as proximal flanking markers. Probes at DXS178 and DXS265 identified the same 145-kb pulsed-field fragment, and both loci were contained within a 200-kb YAC identified with the probe p212. A highly polymorphic CA repeat (DCS178CA) was isolated from one end of this YAC and used in linkage analysis. Probes at DXS101 and DXS328 shared several pulsed-field fragments, the smallest of which was 250 kb. No recombinations were seen between XLA and the DXS178-DXS265-DXS178CA complex, DXS101, DXS328, DXS87, or the gene for proteolipid protein (PLP). Key crossovers, when combined with the linkage data from families with Alport syndrome, suggested the following order of loci: cen-DXS3-DXS366-DXS442-(PLP, DXS101, DXS328, DXS178-DXS265-DXS178CA complex, XL)-(DXS87, DXS94)-DXS327-(DXS350, DXS362)-tel. Our studies also limit the segment of DNA within which the XLA gene must lie to the 3- to 4-cM distance between DCS442 and DXS94 and they identify and orient polymorphisms that can be used in genetic counseling not only for XLA but also for Pelizaeus-Merzbacher disease (PLP deficiency), Alport syndrome (COL4A5 deficiency), and Fabry disease ([alpha]-galactosidase A difficiency). 31 refs., 5 figs., 2 tabs.

  17. Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis

    Directory of Open Access Journals (Sweden)

    Zafar Ali

    2011-01-01

    Full Text Available The present study was carried out to determine the prevalence of families having mental retardation in Pakistani population. We enrolled seven mentally retarded (MR families with two or more affected individuals. Family history was taken to minimize the chances of other abnormalities. Pedigrees were drawn using the Cyrillic software (version 2.1. The structure of pedigrees shows that all the marriages are consanguineous and the families have recessive mode of inheritance. All the families were studied by linkage analysis to mental retardation locus (MRT1/gene PRSS12. Three STR markers (D4S191, D4S2392, and D4S3024 in vicinity of mental retardation (MR locus (MRT1/gene PRSS12 were amplified on all the sample of each family by PCR. The PCR products were then genotyped on non denaturing polyacrylamide gel electrophoresis (PAGE. The Haplotype were constructed to determine the pattern of inheritance and also to determine that a family was linked or unlinked to gene PRSS12. One out of the seven families was potentially linked to gene PRSS12, while the other six families remain unlinked.

  18. Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes.

    Science.gov (United States)

    Sivakumaran, Theru A; Lesperance, Marci M

    2004-11-01

    In this report, we present the haplotype and linkage disequilibrium (LD) pattern in the Collapsin Response Mediator Protein 1 (CRMP1) and Ellis-van Creveld syndrome (EVC) gene region. We genotyped eight different single nucleotide polymorphisms (SNPs) in the CRMP1 and EVC genes in 90 control individuals of diverse ethnicity. The minor allele frequencies ranged from 3.3-49.4%, with most having a frequency >25%. A total of 37 haplotypes were derived from these eight polymorphisms, with only one haplotype having a frequency >10%. Pairwise LD analysis showed a weak but significant LD between markers located about 243 kb apart in this region. The LD was significant between markers spaced about 208 kb apart in EVC, whereas no LD was found between a pair of markers located about 5 kb apart in CRMP1. However, in general, LD correlated with the distance between loci. The CRMP1 and EVC genes are located near WFS1, the Wolfram syndrome type 1 gene, in which mutations also cause low frequency sensorineural hearing loss (LFSNHL). The haplotypes obtained from these polymorphisms will be useful to track the segregation of phenotypes in families with Ellis-van Creveld syndrome, Weyers acrodental dysostosis, LFSNHL and Wolfram syndrome type 1.

  19. Cross border hospital use: analysis using data linkage across four Australian states.

    Science.gov (United States)

    Spilsbury, Katrina; Rosman, Diana; Alan, Janine; Boyd, James H; Ferrante, Anna M; Semmens, James B

    2015-06-15

    To determine the quality and effectiveness of national data linkage capacity by performing a proof-of-concept project investigating cross-border hospital use and hospital-related deaths. Analysis of person-level linked hospital separation and death registration data of all public and private hospital patients in New South Wales, Queensland and Western Australia and of public hospital patients in South Australia, totalling 7.7 million hospital patients from 1 July 2004 to 30 June 2009. Counts and proportions of hospital stays and patient movement patterns. 223 262 patients (3.0%) travelled across a state border to attend hospitals, in particular, far northern and western NSW patients travelling to Queensland and SA hospitals, respectively. A further 48 575 patients (0.6%) moved their place of residence interstate between hospital visits, particularly to and from areas associated with major mining and tourism industries. Over 11 000 cross-border hospital transfers were also identified. Of patients who travelled across a state border to hospital, 2800 (1.3%) died in that hospital. An additional 496 deaths recorded in one jurisdiction occurred within 30 days of hospital separation from another jurisdiction. Access to person-level data linked across jurisdictions identified geographical hot spots of cross-border hospital use and hospital-related deaths in Australia. This has implications for planning of health service delivery and for longitudinal follow-up studies, particularly those involving mobile populations.

  20. Polymorphisms and linkage analysis for ICAM-1 and the selectin gene cluster

    Energy Technology Data Exchange (ETDEWEB)

    Vora, D.K.; Rosenbloom, C.L.; Cottingham, R.W. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-06-01

    Genetic polymorphisms in leukocyte and endothelial cell adhesion molecules may be important variables with regard to susceptibility to multifactorial disease processes that include an inflammatory component. For this reason, polymorphisms were sought for intercellular adhesion molecule-1 (ICAM-1; gene symbol ICAM1) and for the three genes in the selectin cluster, P-selectin, L-selectin, and E-selectin (gene symbols SELP, SELL, and SELE, respectively). Two amino acid polymorphisms were identified for ICAM-1; Gly or Arg at codon 241 and Lys or Glu at codon 469. Dinucleotide repeat polymorphisms were identified in the 3{prime}-untranslated region for ICAM-1 and in intron 9 for P-selectin. Restriction fragment length polymorphisms were found using cDNAs for each of the three selectin genes as probes; E-selectin with BglII, P-selectin with ScaI, and L-selectin with HincII. Linkage analysis was performed for the selectin gene cluster and for ICAM-1 using the CEPH families; ICAM-1 is very tightly linked to the LDL receptor on chromosome 19, and the selectin cluster is linked to markers at chromosome 1q23. 41 refs., 2 tabs.

  1. Linkage between stature and a region on chromosome 20 and analysis of a candidate gene, bone morphogenetic protein 2

    Energy Technology Data Exchange (ETDEWEB)

    Thompson, D.B.; Ossowski, V.; Janssen, R.C.; Knowler, W.C.; Bogardus, C. [National Inst. of Health, Phoenix, AZ (United States)

    1995-12-04

    Sib-pair linkage analysis of the quantitative trait, stature, in over 500 Pima Indians indicates that a genetic determinant of governing stature is located on chromosome 20. Analysis of 10 short tandem repeat polymorphisms localized this linkage to a 3. cM region that includes D20S98 and D20S66. Using all possible sib-pair combinations, linkage was detected to both stature (P = 0.0001) and to leg length (P = 0.001), but not to sitting height. Single-strand conformational polymorphism analysis of exon 3 of the bone morphogenetic protein 2 (BMP2) gene, a candidate gene in this region, in genomic DNA of 20 of the tallest and 20 of the shortest individuals did not show any consistent differences associated with leg length or height. Sequence analysis of the region encoding the mature protein revealed a single nucleotide substitution, a T to G transversion, not detected by single-strand conformational polymorphism (SSCP) analysis. This transversion results in a conservative amino acid substitution of glycine for valine at codon 80 of BMP2. The frequency of this allele was 0.23 in the sample. No significant differences in height were noted in persons carrying either allele. This indicates that this structural alteration in the mature BMP2 protein does not contribute to the differences in stature observed in the Pima Indians, nor is this structural change in the mature protein likely to be responsible for the linkage observed with stature on chromosome 20. 33 refs., 2 figs., 2 tabs.

  2. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

    DEFF Research Database (Denmark)

    Leu, Costin; de Kovel, Carolien G F; Zara, Federico

    2012-01-01

    Purpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1...... ancestry including 982 relatives with GGEs. To dissect out seizure type-related susceptibility genes, two family subgroups were stratified comprising 235 families with predominantly genetic absence epilepsies (GAEs) and 118 families with an aggregation of juvenile myoclonic epilepsy (JME). To map shared...... Findings: For the entire set of 379 GGE-multiplex families, linkage analysis revealed six loci achieving suggestive evidence for linkage at 1p36.22, 3p14.2, 5q34, 13q12.12, 13q31.3, and 19q13.42. The linkage finding at 5q34 was consistently supported by both NPL and parametric linkage results across all...

  3. Molecular analysis and test of linkage between the FMR-I gene and infantile autism in multiplex families

    Energy Technology Data Exchange (ETDEWEB)

    Hallmayer, J.; Pintado, E.; Lotspeich, L.; Spiker, D.; Kraemer, H.C.; Lee Wong, D.; Lin, A.; Herbert, J.; Cavalli-Sforza, L.L.; Ciaranello, R.D. [Stanford Univ., CA (United States)] [and others

    1994-11-01

    Approximately 2%-5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met stringent criteria for multiplex autism. Amplification of the trinucleotide repeat and analysis of methylation status were performed in 79 autistic children and in 31 of their unaffected siblings by Southern blot analysis. No examples of amplified repeats were seen in the autistic or control children or in their parents or grandparents. We next examined the hypothesis that there was a mutation elsewhere in the FMR-1 gene, by linkage analysis in 32 of these families. We tested four different dominant models and a recessive model. Linkage to FMR-1 could be excluded (lod score between -24 and -62) in all models by using probes DXS548, FRAXAC1, and FRAXAC2 and the CGG repeat itself. Tests for heterogeneity in this sample were negative, and the occurrence of positive lod scores in this data set could be attributed to chance. Analysis of the data by the affected-sib method also did not show evidence for linkage of any marker to autism. These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1. Further, because the overall lod scores for all probes in all models tested were highly negative, linkage to FMR-1 can also be ruled out in multiplex autistic families. 35 refs., 2 figs., 5 tabs.

  4. Candidate region linkage analysis in twins discordant or concordant for depression symptomatology

    DEFF Research Database (Denmark)

    Christiansen, Lene; Tan, Q; Kruse, T A

    2009-01-01

    Genetic risk factors contribute considerably to both clinical affective disorders and subsyndromal mood level. There is moreover evidence to suggest that the genetic basis of bipolar disorder and unipolar depression overlap to some extent, and several linkage analyses have suggested evidence...... for a common susceptibility locus in affective disorders on chromosome 12q24. In this study we investigated the chromosome 12 candidate region for linkage to the mean level of depression symptomatology, over a 10-year follow-up, using a highly informative sample of concordant and discordant twin pairs selected...

  5. Linkage analyses in type I diabetes mellitus using CASPAR, a software and statistical program for conditional analysis of polygenic diseases.

    Science.gov (United States)

    Buhler, J; Owerbach, D; Schäffer, A A; Kimmel, M; Gabbay, K H

    1997-01-01

    We have developed software and statistical tools for linkage analysis of polygenic diseases. We use type I diabetes mellitus (insulin-dependent diabetes mellitus, IDDM) as our model system. Two susceptibility loci (IDDM1 on 6p21 and IDDM2 on 11p15) are well established, and recent genome searches suggest the existence of other susceptibility loci. We have implemented CASPAR, a software tool that makes it possible to test for linkage quickly and efficiently using multiple polymorphic DNA markers simultaneously in nuclear families consisting of two unaffected parents and a pair of affected siblings (ASP). We use a simulation-based method to determine whether lod scores from a collection of ASP tests are significant. We test our new software and statistical tools to assess linkage of IDDM5 and IDDM7 conditioned on analyses with 1 or 2 other unlinked type I diabetes susceptibility loci. The results from the CASPAR analysis suggest that conditioning of IDDM5 on IDDM1 and IDDM4, and of IDDM7 on IDDM1 and IDDM2 provides significant benefits for the genetic analysis of polygenic loci.

  6. Determination of drug absorption rate in time-variant disposition by direct deconvolution using beta clearance correction and end-constrained non-parametric regression.

    Science.gov (United States)

    Neelakantan, S; Veng-Pedersen, P

    2005-11-01

    A novel numerical deconvolution method is presented that enables the estimation of drug absorption rates under time-variant disposition conditions. The method involves two components. (1) A disposition decomposition-recomposition (DDR) enabling exact changes in the unit impulse response (UIR) to be constructed based on centrally based clearance changes iteratively determined. (2) A non-parametric, end-constrained cubic spline (ECS) input response function estimated by cross-validation. The proposed DDR-ECS method compensates for disposition changes between the test and the reference administrations by using a "beta" clearance correction based on DDR analysis. The representation of the input response by the ECS method takes into consideration the complex absorption process and also ensures physiologically realistic approximations of the response. The stability of the new method to noisy data was evaluated by comprehensive simulations that considered different UIRs, various input functions, clearance changes and a novel scaling of the input function that includes the "flip-flop" absorption phenomena. The simulated input response was also analysed by two other methods and all three methods were compared for their relative performances. The DDR-ECS method provides better estimation of the input profile under significant clearance changes but tends to overestimate the input when there were only small changes in the clearance.

  7. A novel non-parametric method for uncertainty evaluation of correlation-based molecular signatures: its application on PAM50 algorithm.

    Science.gov (United States)

    Fresno, Cristóbal; González, Germán Alexis; Merino, Gabriela Alejandra; Flesia, Ana Georgina; Podhajcer, Osvaldo Luis; Llera, Andrea Sabina; Fernández, Elmer Andrés

    2017-03-01

    The PAM50 classifier is used to assign patients to the highest correlated breast cancer subtype irrespectively of the obtained value. Nonetheless, all subtype correlations are required to build the risk of recurrence (ROR) score, currently used in therapeutic decisions. Present subtype uncertainty estimations are not accurate, seldom considered or require a population-based approach for this context. Here we present a novel single-subject non-parametric uncertainty estimation based on PAM50's gene label permutations. Simulations results ( n  = 5228) showed that only 61% subjects can be reliably 'Assigned' to the PAM50 subtype, whereas 33% should be 'Not Assigned' (NA), leaving the rest to tight 'Ambiguous' correlations between subtypes. The NA subjects exclusion from the analysis improved survival subtype curves discrimination yielding a higher proportion of low and high ROR values. Conversely, all NA subjects showed similar survival behaviour regardless of the original PAM50 assignment. We propose to incorporate our PAM50 uncertainty estimation to support therapeutic decisions. Source code can be found in 'pbcmc' R package at Bioconductor. cristobalfresno@gmail.com or efernandez@bdmg.com.ar. Supplementary data are available at Bioinformatics online.

  8. The Non-Parametric Model for Linking Galaxy Luminosity with Halo/Subhalo Mass: Are First Brightest Galaxies Special?

    CERN Document Server

    Vale, A

    2007-01-01

    We revisit the longstanding question of whether first brightest cluster galaxies are statistically drawn from the same distribution as other cluster galaxies or are "special", using the new non-parametric, empirically based model presented in Vale&Ostriker (2006) for associating galaxy luminosity with halo/subhalo masses. We introduce scatter in galaxy luminosity at fixed halo mass into this model, building a conditional luminosity function (CLF) by considering two possible models: a simple lognormal and a model based on the distribution of concentration in haloes of a given mass. We show that this model naturally allows an identification of halo/subhalo systems with groups and clusters of galaxies, giving rise to a clear central/satellite galaxy distinction. We then use these results to build up the dependence of brightest cluster galaxy (BCG) magnitudes on cluster luminosity, focusing on two statistical indicators, the dispersion in BCG magnitude and the magnitude difference between first and second bri...

  9. Singular Value Decomposition, Hessian Errors, and Linear Algebra of Non-parametric Extraction of Partons from DIS

    CERN Document Server

    Goshtasbpour, Mehrdad

    2014-01-01

    By singular value decomposition (SVD) of a numerically singular Hessian matrix and a numerically singular system of linear equations for the experimental data (accumulated in the respective ${\\chi ^2}$ function) and constraints, least square solutions and their propagated errors for the non-parametric extraction of Partons from $F_2$ are obtained. SVD and its physical application is phenomenologically described in the two cases. Among the subjects covered are: identification and properties of the boundary between the two subsets of ordered eigenvalues corresponding to range and null space, and the eigenvalue structure of the null space of the singular matrix, including a second boundary separating the smallest eigenvalues of essentially no information, in a particular case. The eigenvector-eigenvalue structure of "redundancy and smallness" of the errors of two pdf sets, in our simplified Hessian model, is described by a secondary manifestation of deeper null space, in the context of SVD.

  10. Detection of Bistability in Phase Space of a Real Galaxy, using a New Non-parametric Bayesian Test of Hypothesis

    CERN Document Server

    Chakrabarty, Dalia

    2013-01-01

    In lieu of direct detection of dark matter, estimation of the distribution of the gravitational mass in distant galaxies is of crucial importance in Astrophysics. Typically, such estimation is performed using small samples of noisy, partially missing measurements - only some of the three components of the velocity and location vectors of individual particles that live in the galaxy are measurable. Such limitations of the available data in turn demands that simplifying model assumptions be undertaken. Thus, assuming that the phase space of a galaxy manifests simple symmetries - such as isotropy - allows for the learning of the density of the gravitational mass in galaxies. This is equivalent to assuming that the phase space $pdf$ from which the velocity and location vectors of galactic particles are sampled from, is an isotropic function of these vectors. We present a new non-parametric test of hypothesis that tests for relative support in two or more measured data sets of disparate sizes, for the undertaken m...

  11. rSeqNP: a non-parametric approach for detecting differential expression and splicing from RNA-Seq data.

    Science.gov (United States)

    Shi, Yang; Chinnaiyan, Arul M; Jiang, Hui

    2015-07-01

    High-throughput sequencing of transcriptomes (RNA-Seq) has become a powerful tool to study gene expression. Here we present an R package, rSeqNP, which implements a non-parametric approach to test for differential expression and splicing from RNA-Seq data. rSeqNP uses permutation tests to access statistical significance and can be applied to a variety of experimental designs. By combining information across isoforms, rSeqNP is able to detect more differentially expressed or spliced genes from RNA-Seq data. The R package with its source code and documentation are freely available at http://www-personal.umich.edu/∼jianghui/rseqnp/. jianghui@umich.edu Supplementary data are available at Bioinformatics online. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  12. A non-parametric conditional bivariate reference region with an application to height/weight measurements on normal girls

    DEFF Research Database (Denmark)

    Petersen, Jørgen Holm

    2009-01-01

    A conceptually simple two-dimensional conditional reference curve is described. The curve gives a decision basis for determining whether a bivariate response from an individual is "normal" or "abnormal" when taking into account that a third (conditioning) variable may influence the bivariate...... response. The reference curve is not only characterized analytically but also by geometric properties that are easily communicated to medical doctors - the users of such curves. The reference curve estimator is completely non-parametric, so no distributional assumptions are needed about the two......-dimensional response. An example that will serve to motivate and illustrate the reference is the study of the height/weight distribution of 7-8-year-old Danish school girls born in 1930, 1950, or 1970....

  13. Adaptive ILC algorithms of nonlinear continuous systems with non-parametric uncertainties for non-repetitive trajectory tracking

    Science.gov (United States)

    Li, Xiao-Dong; Lv, Mang-Mang; Ho, John K. L.

    2016-07-01

    In this article, two adaptive iterative learning control (ILC) algorithms are presented for nonlinear continuous systems with non-parametric uncertainties. Unlike general ILC techniques, the proposed adaptive ILC algorithms allow that both the initial error at each iteration and the reference trajectory are iteration-varying in the ILC process, and can achieve non-repetitive trajectory tracking beyond a small initial time interval. Compared to the neural network or fuzzy system-based adaptive ILC schemes and the classical ILC methods, in which the number of iterative variables is generally larger than or equal to the number of control inputs, the first adaptive ILC algorithm proposed in this paper uses just two iterative variables, while the second even uses a single iterative variable provided that some bound information on system dynamics is known. As a result, the memory space in real-time ILC implementations is greatly reduced.

  14. Detrending the long-term stellar activity and the systematics of the Kepler data with a non-parametric approach

    CERN Document Server

    Danielski, C; Tinetti, G

    2013-01-01

    The NASA Kepler mission is delivering groundbreaking results, with an increasing number of Earth-sized and moon-sized objects been discovered. A high photometric precision can be reached only through a thorough removal of the stellar activity and the instrumental systematics. We have explored here the possibility of using non-parametric methods to analyse the Simple Aperture Photometry data observed by the Kepler mission. We focused on a sample of stellar light curves with different effective temperatures and flux modulations, and we found that Gaussian Processes-based techniques can very effectively correct the instrumental systematics along with the long-term stellar activity. Our method can disentangle astrophysical features (events), such as planetary transits, flares or general sudden variations in the intensity, from the star signal and it is very efficient as it requires only a few training iterations of the Gaussian Process model. The results obtained show the potential of our method to isolate the ma...

  15. Genetic Linkage Analysis of the Natural Colored Fiber and Fuzzless Traits in Cotton

    Institute of Scientific and Technical Information of China (English)

    LI Fu-zhen; QIU Xin-mian; WANG Ju-qin; LU Yan-tin; BAO Li-sheng

    2008-01-01

    @@ Genetic linkage relationship of the natural colored fiber and six fuzzless seed germplasms in obsolete backgrounds of Gossypium hirsutum (AD genome) and G.barbadense were analyzed in the past two years.Three lines of natural brown fiber that were controlled by single dominant genes and two lines of green fiber controlled by another single dominant gene.

  16. QTL linkage analysis of connected populations using ancestral marker and pedigree information

    NARCIS (Netherlands)

    Bink, M.C.A.M.; Radu Totir, L.; Braak, ter C.J.F.; Winkler, C.R.; Boer, M.P.; Smith, O.S.

    2012-01-01

    The common assumption in quantitative trait locus (QTL) linkage mapping studies that parents of multiple connected populations are unrelated is unrealistic for many plant breeding programs. We remove this assumption and propose a Bayesian approach that clusters the alleles of the parents of the

  17. A Linkage Map and QTL Analysis for Pyrethroid Resistance in the Bed Bug Cimex lectularius.

    Science.gov (United States)

    Fountain, Toby; Ravinet, Mark; Naylor, Richard; Reinhardt, Klaus; Butlin, Roger K

    2016-12-07

    The rapid evolution of insecticide resistance remains one of the biggest challenges in the control of medically and economically important pests. Insects have evolved a diverse range of mechanisms to reduce the efficacy of the commonly used classes of insecticides, and finding the genetic basis of resistance is a major aid to management. In a previously unstudied population, we performed an F2 resistance mapping cross for the common bed bug, Cimex lectularius, for which insecticide resistance is increasingly widespread. Using 334 SNP markers obtained through RAD-sequencing, we constructed the first linkage map for the species, consisting of 14 putative linkage groups (LG), with a length of 407 cM and an average marker spacing of 1.3 cM. The linkage map was used to reassemble the recently published reference genome, facilitating refinement and validation of the current genome assembly. We detected a major QTL on LG12 associated with insecticide resistance, occurring in close proximity (1.2 Mb) to a carboxylesterase encoding candidate gene for pyrethroid resistance. This provides another example of this candidate gene playing a major role in determining survival in a bed bug population following pesticide resistance evolution. The recent availability of the bed bug genome, complete with a full list of potential candidate genes related to insecticide resistance, in addition to the linkage map generated here, provides an excellent resource for future research on the development and spread of insecticide resistance in this resurging pest species. Copyright © 2016 Fountain et al.

  18. A Linkage Map and QTL Analysis for Pyrethroid Resistance in the Bed Bug Cimex lectularius

    Directory of Open Access Journals (Sweden)

    Toby Fountain

    2016-12-01

    Full Text Available The rapid evolution of insecticide resistance remains one of the biggest challenges in the control of medically and economically important pests. Insects have evolved a diverse range of mechanisms to reduce the efficacy of the commonly used classes of insecticides, and finding the genetic basis of resistance is a major aid to management. In a previously unstudied population, we performed an F2 resistance mapping cross for the common bed bug, Cimex lectularius, for which insecticide resistance is increasingly widespread. Using 334 SNP markers obtained through RAD-sequencing, we constructed the first linkage map for the species, consisting of 14 putative linkage groups (LG, with a length of 407 cM and an average marker spacing of 1.3 cM. The linkage map was used to reassemble the recently published reference genome, facilitating refinement and validation of the current genome assembly. We detected a major QTL on LG12 associated with insecticide resistance, occurring in close proximity (1.2 Mb to a carboxylesterase encoding candidate gene for pyrethroid resistance. This provides another example of this candidate gene playing a major role in determining survival in a bed bug population following pesticide resistance evolution. The recent availability of the bed bug genome, complete with a full list of potential candidate genes related to insecticide resistance, in addition to the linkage map generated here, provides an excellent resource for future research on the development and spread of insecticide resistance in this resurging pest species.

  19. A Linkage Map and QTL Analysis for Pyrethroid Resistance in the Bed Bug Cimex lectularius

    Science.gov (United States)

    Fountain, Toby; Ravinet, Mark; Naylor, Richard; Reinhardt, Klaus; Butlin, Roger K.

    2016-01-01

    The rapid evolution of insecticide resistance remains one of the biggest challenges in the control of medically and economically important pests. Insects have evolved a diverse range of mechanisms to reduce the efficacy of the commonly used classes of insecticides, and finding the genetic basis of resistance is a major aid to management. In a previously unstudied population, we performed an F2 resistance mapping cross for the common bed bug, Cimex lectularius, for which insecticide resistance is increasingly widespread. Using 334 SNP markers obtained through RAD-sequencing, we constructed the first linkage map for the species, consisting of 14 putative linkage groups (LG), with a length of 407 cM and an average marker spacing of 1.3 cM. The linkage map was used to reassemble the recently published reference genome, facilitating refinement and validation of the current genome assembly. We detected a major QTL on LG12 associated with insecticide resistance, occurring in close proximity (1.2 Mb) to a carboxylesterase encoding candidate gene for pyrethroid resistance. This provides another example of this candidate gene playing a major role in determining survival in a bed bug population following pesticide resistance evolution. The recent availability of the bed bug genome, complete with a full list of potential candidate genes related to insecticide resistance, in addition to the linkage map generated here, provides an excellent resource for future research on the development and spread of insecticide resistance in this resurging pest species. PMID:27733453

  20. QTL linkage analysis of connected populations using ancestral marker and pedigree information

    NARCIS (Netherlands)

    Bink, M.C.A.M.; Radu Totir, L.; Braak, ter C.J.F.; Winkler, C.R.; Boer, M.P.; Smith, O.S.

    2012-01-01

    The common assumption in quantitative trait locus (QTL) linkage mapping studies that parents of multiple connected populations are unrelated is unrealistic for many plant breeding programs. We remove this assumption and propose a Bayesian approach that clusters the alleles of the parents of the curr

  1. A Longitudinal Analysis of the Linkage between Suicide, Unemployment, and Marital Dissolution.

    Science.gov (United States)

    Wasserman, Ira M.

    1984-01-01

    Explores the linkage of divorce and suicide from 1964 to 1977, controlling for variations in unemployment. Findings demonstrated that, even with controls, the divorce rate explains variations in the suicide rate, suggesting that the kinship system is being greatly altered, which increases the propensity toward suicide. (JAC)

  2. FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis

    Institute of Scientific and Technical Information of China (English)

    王冰; 胡冬煦; 夏家辉; 李崎; 杨进福; 吕国华

    2003-01-01

    Objectives To analyze the FBN1 mutations in Chinese patients with Marfan syndrome (MFS) and to make a genetic diagnosis based on haplotype linkage analysis for MFS. Methods Nine MFS families (17 patients) were analyzed with single strand conformation polymorphism (SSCP) and sequencing. Four primers were designed for the flanking sequences of FBN1 gene and used for haplotype-segregation analysis of MFS (B).Conclusion The combination of mutation detection and chromosome haplotype analysis can provide better evidence for a genetic diagnosis of MFS.

  3. Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

    Science.gov (United States)

    Eggers, Stefanie; Smith, Katherine R; Bahlo, Melanie; Looijenga, Leendert H J; Drop, Stenvert L S; Juniarto, Zulfa A; Harley, Vincent R; Koopman, Peter; Faradz, Sultana M H; Sinclair, Andrew H

    2015-04-01

    Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or steroidogenesis. Most patients with DSD have an unknown genetic etiology and cannot be given an accurate diagnosis. We used whole exome capture and massively parallel sequencing to analyse a large family with 46,XY DSD and 46,XX premature ovarian insufficiency. In addition, we used a recently developed method for linkage analysis using genotypes extracted from the MPS data. This approach identified a unique linkage peak on chromosome 9 and a novel, 3 bp, in-frame deletion in exon six of NR5A1 (steroidogenic factor-1 or SF1) in all affected individuals. We confirmed that the variant disrupts the SF1 protein and its ability to bind and regulate downstream genes. NR5A1 has key roles at multiple points in gonad development and steroidogenic pathways. The variant described here affects the function of SF1 in early testis development and later ovarian function, ultimately leading to the 46,XY DSD and 46,XX premature ovarian insufficiency phenotypes, respectively. This study shows that even at low coverage, whole exome sequencing, when combined with linkage analysis, can be a powerful tool to identify rapidly the disease-causing variant in large pedigrees.

  4. A Hierarchical Generalized Linear Model in Combination with Dispersion Modeling to Improve Sib-Pair Linkage Analysis.

    Science.gov (United States)

    Lee, Woojoo; Kim, Jeonghwan; Lee, Youngjo; Park, Taesung; Suh, Young Ju

    2015-01-01

    We explored a hierarchical generalized linear model (HGLM) in combination with dispersion modeling to improve the sib-pair linkage analysis based on the revised Haseman-Elston regression model for a quantitative trait. A dispersion modeling technique was investigated for sib-pair linkage analysis using simulation studies and real data applications. We considered 4 heterogeneous dispersion settings according to a signal-to-noise ratio (SNR) in the various statistical models based on the Haseman-Elston regression model. Our numerical studies demonstrated that susceptibility loci could be detected well by modeling the dispersion parameter appropriately. In particular, the HGLM had better performance than the linear regression model and the ordinary linear mixed model when the SNR is low, i.e., when substantial noise was present in the data. The study shows that the HGLM in combination with dispersion modeling can be utilized to identify multiple markers showing linkage to familial complex traits accurately. Appropriate dispersion modeling might be more powerful to identify markers closest to the major genes which determine a quantitative trait. © 2015 S. Karger AG, Basel.

  5. Comparative linkage meta-analysis reveals regionally-distinct, disparate genetic architectures: application to bipolar disorder and schizophrenia.

    Directory of Open Access Journals (Sweden)

    Brady Tang

    Full Text Available New high-throughput, population-based methods and next-generation sequencing capabilities hold great promise in the quest for common and rare variant discovery and in the search for "missing heritability." However, the optimal analytic strategies for approaching such data are still actively debated, representing the latest rate-limiting step in genetic progress. Since it is likely a majority of common variants of modest effect have been identified through the application of tagSNP-based microarray platforms (i.e., GWAS, alternative approaches robust to detection of low-frequency (1-5% MAF and rare (<1% variants are of great importance. Of direct relevance, we have available an accumulated wealth of linkage data collected through traditional genetic methods over several decades, the full value of which has not been exhausted. To that end, we compare results from two different linkage meta-analysis methods--GSMA and MSP--applied to the same set of 13 bipolar disorder and 16 schizophrenia GWLS datasets. Interestingly, we find that the two methods implicate distinct, largely non-overlapping, genomic regions. Furthermore, based on the statistical methods themselves and our contextualization of these results within the larger genetic literatures, our findings suggest, for each disorder, distinct genetic architectures may reside within disparate genomic regions. Thus, comparative linkage meta-analysis (CLMA may be used to optimize low-frequency and rare variant discovery in the modern genomic era.

  6. DNA Marker Transmission and Linkage Analysis in Populations Derived from a Sugarcane (Saccharum spp. x Erianthus arundinaceus Hybrid.

    Directory of Open Access Journals (Sweden)

    Jian-wen Chen

    Full Text Available Introgression of Erianthus arundinaceus has been the focus of several sugarcane breeding programs in the world, because the species has desirable traits such as high biomass production, vigour, ratooning ability and good resistance to environmental stresses and disease. In this study four genetic maps were constructed for two intergeneric populations. The first population (BC1 was generated from a cross between an Erianthus/Saccharum hybrid YC96-40 and a commercial sugarcane variety CP84-1198. The second population (BC2 was generated from a cross between YCE01-116, a progeny of the BC1 cross and NJ57-416, a commercial sugarcane cultivar. Markers across both populations were generated using 35 AFLP and 23 SSR primer pairs. A total of 756 and 728 polymorphic markers were scored in the BC1 and BC2 populations, respectively. In the BC1 population, a higher proportion of markers was derived from the Erianthus ancestor than those from the Saccharum ancestor Badila. In the BC2 population, both the number and proportion of markers derived from Erianthus were approximately half of those in the BC1 population. Linkage analysis led to the construction of 38, 57, 36 and 47 linkage groups (LGs for YC96-40, CP84-1198, YCE01-116, and NJ57-416, encompassing 116, 174, 97 and 159 markers (including single dose, double dose and bi-parental markers, respectively. These LGs could be further placed into four, five, five and six homology groups (HGs, respectively, based on information from multi-allelic SSR markers and repulsion phase linkages detected between LGs. Analysis of repulsion phase linkage indicated that Erianthus behaved like a true autopolyploid.

  7. Technical Topic 3.2.2.d Bayesian and Non-Parametric Statistics: Integration of Neural Networks with Bayesian Networks for Data Fusion and Predictive Modeling

    Science.gov (United States)

    2016-05-31

    Distribution Unlimited UU UU UU UU 31-05-2016 15-Apr-2014 14-Jan-2015 Final Report: Technical Topic 3.2.2.d Bayesian and Non- parametric Statistics...of Papers published in non peer-reviewed journals: Final Report: Technical Topic 3.2.2.d Bayesian and Non- parametric Statistics: Integration of Neural...Transfer N/A Number of graduating undergraduates who achieved a 3.5 GPA to 4.0 (4.0 max scale ): Number of graduating undergraduates funded by a DoD funded

  8. Exploring a Nonmodel Teleost Genome Through RAD Sequencing-Linkage Mapping in Common Pandora, Pagellus erythrinus and Comparative Genomic Analysis.

    Science.gov (United States)

    Manousaki, Tereza; Tsakogiannis, Alexandros; Taggart, John B; Palaiokostas, Christos; Tsaparis, Dimitris; Lagnel, Jacques; Chatziplis, Dimitrios; Magoulas, Antonios; Papandroulakis, Nikos; Mylonas, Constantinos C; Tsigenopoulos, Costas S

    2015-12-29

    Common pandora (Pagellus erythrinus) is a benthopelagic marine fish belonging to the teleost family Sparidae, and a newly recruited species in Mediterranean aquaculture. The paucity of genetic information relating to sparids, despite their growing economic value for aquaculture, provides the impetus for exploring the genomics of this fish group. Genomic tool development, such as genetic linkage maps provision, lays the groundwork for linking genotype to phenotype, allowing fine-mapping of loci responsible for beneficial traits. In this study, we applied ddRAD methodology to identify polymorphic markers in a full-sib family of common pandora. Employing the Illumina MiSeq platform, we sampled and sequenced a size-selected genomic fraction of 99 individuals, which led to the identification of 920 polymorphic loci. Downstream mapping analysis resulted in the construction of 24 robust linkage groups, corresponding to the karyotype of the species. The common pandora linkage map showed varying degrees of conserved synteny with four other teleost genomes, namely the European seabass (Dicentrarchus labrax), Nile tilapia (Oreochromis niloticus), stickleback (Gasterosteus aculeatus), and medaka (Oryzias latipes), suggesting a conserved genomic evolution in Sparidae. Our work exploits the possibilities of genotyping by sequencing to gain novel insights into genome structure and evolution. Such information will boost the study of cultured species and will set the foundation for a deeper understanding of the complex evolutionary history of teleosts.

  9. Exploring a Nonmodel Teleost Genome Through RAD Sequencing—Linkage Mapping in Common Pandora, Pagellus erythrinus and Comparative Genomic Analysis

    Directory of Open Access Journals (Sweden)

    Tereza Manousaki

    2016-03-01

    Full Text Available Common pandora (Pagellus erythrinus is a benthopelagic marine fish belonging to the teleost family Sparidae, and a newly recruited species in Mediterranean aquaculture. The paucity of genetic information relating to sparids, despite their growing economic value for aquaculture, provides the impetus for exploring the genomics of this fish group. Genomic tool development, such as genetic linkage maps provision, lays the groundwork for linking genotype to phenotype, allowing fine-mapping of loci responsible for beneficial traits. In this study, we applied ddRAD methodology to identify polymorphic markers in a full-sib family of common pandora. Employing the Illumina MiSeq platform, we sampled and sequenced a size-selected genomic fraction of 99 individuals, which led to the identification of 920 polymorphic loci. Downstream mapping analysis resulted in the construction of 24 robust linkage groups, corresponding to the karyotype of the species. The common pandora linkage map showed varying degrees of conserved synteny with four other teleost genomes, namely the European seabass (Dicentrarchus labrax, Nile tilapia (Oreochromis niloticus, stickleback (Gasterosteus aculeatus, and medaka (Oryzias latipes, suggesting a conserved genomic evolution in Sparidae. Our work exploits the possibilities of genotyping by sequencing to gain novel insights into genome structure and evolution. Such information will boost the study of cultured species and will set the foundation for a deeper understanding of the complex evolutionary history of teleosts.

  10. Exploring a Nonmodel Teleost Genome Through RAD Sequencing—Linkage Mapping in Common Pandora, Pagellus erythrinus and Comparative Genomic Analysis

    Science.gov (United States)

    Manousaki, Tereza; Tsakogiannis, Alexandros; Taggart, John B.; Palaiokostas, Christos; Tsaparis, Dimitris; Lagnel, Jacques; Chatziplis, Dimitrios; Magoulas, Antonios; Papandroulakis, Nikos; Mylonas, Constantinos C.; Tsigenopoulos, Costas S.

    2015-01-01

    Common pandora (Pagellus erythrinus) is a benthopelagic marine fish belonging to the teleost family Sparidae, and a newly recruited species in Mediterranean aquaculture. The paucity of genetic information relating to sparids, despite their growing economic value for aquaculture, provides the impetus for exploring the genomics of this fish group. Genomic tool development, such as genetic linkage maps provision, lays the groundwork for linking genotype to phenotype, allowing fine-mapping of loci responsible for beneficial traits. In this study, we applied ddRAD methodology to identify polymorphic markers in a full-sib family of common pandora. Employing the Illumina MiSeq platform, we sampled and sequenced a size-selected genomic fraction of 99 individuals, which led to the identification of 920 polymorphic loci. Downstream mapping analysis resulted in the construction of 24 robust linkage groups, corresponding to the karyotype of the species. The common pandora linkage map showed varying degrees of conserved synteny with four other teleost genomes, namely the European seabass (Dicentrarchus labrax), Nile tilapia (Oreochromis niloticus), stickleback (Gasterosteus aculeatus), and medaka (Oryzias latipes), suggesting a conserved genomic evolution in Sparidae. Our work exploits the possibilities of genotyping by sequencing to gain novel insights into genome structure and evolution. Such information will boost the study of cultured species and will set the foundation for a deeper understanding of the complex evolutionary history of teleosts. PMID:26715088

  11. A potential novel spontaneous preterm birth gene, AR, identified by linkage and association analysis of X chromosomal markers.

    Directory of Open Access Journals (Sweden)

    Minna K Karjalainen

    Full Text Available Preterm birth is the major cause of neonatal mortality and morbidity. In many cases, it has severe life-long consequences for the health and neurological development of the newborn child. More than 50% of all preterm births are spontaneous, and currently there is no effective prevention. Several studies suggest that genetic factors play a role in spontaneous preterm birth (SPTB. However, its genetic background is insufficiently characterized. The aim of the present study was to perform a linkage analysis of X chromosomal markers in SPTB in large northern Finnish families with recurrent SPTBs. We found a significant linkage signal (HLOD = 3.72 on chromosome locus Xq13.1 when the studied phenotype was being born preterm. There were no significant linkage signals when the studied phenotype was giving preterm deliveries. Two functional candidate genes, those encoding the androgen receptor (AR and the interleukin-2 receptor gamma subunit (IL2RG, located near this locus were analyzed as candidates for SPTB in subsequent case-control association analyses. Nine single-nucleotide polymorphisms (SNPs within these genes and an AR exon-1 CAG repeat, which was previously demonstrated to be functionally significant, were analyzed in mothers with preterm delivery (n = 272 and their offspring (n = 269, and in mothers with exclusively term deliveries (n = 201 and their offspring (n = 199, all originating from northern Finland. A replication study population consisting of individuals born preterm (n = 111 and term (n = 197 from southern Finland was also analyzed. Long AR CAG repeats (≥ 26 were overrepresented and short repeats (≤ 19 underrepresented in individuals born preterm compared to those born at term. Thus, our linkage and association results emphasize the role of the fetal genome in genetic predisposition to SPTB and implicate AR as a potential novel fetal susceptibility gene for SPTB.

  12. A potential novel spontaneous preterm birth gene, AR, identified by linkage and association analysis of X chromosomal markers.

    Science.gov (United States)

    Karjalainen, Minna K; Huusko, Johanna M; Ulvila, Johanna; Sotkasiira, Jenni; Luukkonen, Aino; Teramo, Kari; Plunkett, Jevon; Anttila, Verneri; Palotie, Aarno; Haataja, Ritva; Muglia, Louis J; Hallman, Mikko

    2012-01-01

    Preterm birth is the major cause of neonatal mortality and morbidity. In many cases, it has severe life-long consequences for the health and neurological development of the newborn child. More than 50% of all preterm births are spontaneous, and currently there is no effective prevention. Several studies suggest that genetic factors play a role in spontaneous preterm birth (SPTB). However, its genetic background is insufficiently characterized. The aim of the present study was to perform a linkage analysis of X chromosomal markers in SPTB in large northern Finnish families with recurrent SPTBs. We found a significant linkage signal (HLOD = 3.72) on chromosome locus Xq13.1 when the studied phenotype was being born preterm. There were no significant linkage signals when the studied phenotype was giving preterm deliveries. Two functional candidate genes, those encoding the androgen receptor (AR) and the interleukin-2 receptor gamma subunit (IL2RG), located near this locus were analyzed as candidates for SPTB in subsequent case-control association analyses. Nine single-nucleotide polymorphisms (SNPs) within these genes and an AR exon-1 CAG repeat, which was previously demonstrated to be functionally significant, were analyzed in mothers with preterm delivery (n = 272) and their offspring (n = 269), and in mothers with exclusively term deliveries (n = 201) and their offspring (n = 199), all originating from northern Finland. A replication study population consisting of individuals born preterm (n = 111) and term (n = 197) from southern Finland was also analyzed. Long AR CAG repeats (≥ 26) were overrepresented and short repeats (≤ 19) underrepresented in individuals born preterm compared to those born at term. Thus, our linkage and association results emphasize the role of the fetal genome in genetic predisposition to SPTB and implicate AR as a potential novel fetal susceptibility gene for SPTB.

  13. Linkage analysis of genes for resistance to downy mildew (Bremia lactucae) in lettuce (Lactuca sativa).

    Science.gov (United States)

    Hulbert, S H; Michelmore, R W

    1985-08-01

    The genetics of specific resistance was studied in F2 populations which segregated for either one or two resistance genes. The resistance factors 1, 11 and 14 which had not previously been characterized genetically segregated as single dominant genes (Dm). Resistance was determined by three linkage groups; R 1/14, 2, 3, and 6 in the first, R 5/8, and 10 in the second and R 4, 7 and 11 in the third. Cultivars of lettuce commonly used in the differential series to detect virulence to R3 and R10, were demonstrated to carry two tightly linked resistance genes. Implications of this linkage arrangement to the manipulation and characterization of these resistance genes are discussed.

  14. Asymptotic estimation theory of multipoint linkage analysis under perfect marker information

    OpenAIRE

    Hössjer, Ola

    2003-01-01

    We consider estimation of a disease susceptibility locus $\\tau$ at a chromosome. With perfect marker data available, the estimator $\\htau_N$ of $\\tau$ based on $N$-pedigrees has a rate of convergence $N^{-1}$ under mild regularity conditions. The limiting distribution is the arg max of a certain compound Poisson process. Our approach is conditional on observed phenotypes, and therefore treats parametric and nonparametric linkage, as well as quantitative trait loci methods within a unified fra...

  15. Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus

    Energy Technology Data Exchange (ETDEWEB)

    Purandare, S.M.; Viskochil, D.H.; Cawthon, R. [Univ. of Utah, Salt Lake City, UT (United States)] [and others

    1996-07-01

    Six polymorphism across the NF1 gene have been adapted for genotyping through application of PCR-based assays. Three exon-based polymorphisms - at positions 702, 2034, and 10647 in the NF1 cDNA - were genotyped by mutagenically separated PCR (MS-PCR). A fourth polymorphism, DV1.9, is an L1 insertion element in intron 30, and the other two polymorphisms, GXAlu and EVI-20, are short tandem repeats in intron 27b. All the polymorphisms were evaluated in a cohort of 110 CEPH individuals who previously had been analyzed by use of eight RFLPs at the NF1 locus. Pairwise linkage-disequilibrium analyses with the six PCR-based polymorphisms and their flanking markers demonstrated disequilibrium between all tested loci. Genotypes of the four diallelic polymorphisms (702, 2034, 10647, and DV1.9) were also evaluated in cohorts from the CEPH, African, and Japanese populations. The CEPH and Japanese cohorts showed similar heterozygosities and linkage-disequilibrium coefficients. The African cohort showed a higher degree of heterozygosity and lower linkage-disequilibrium values, compared with the CEPH and Japanese cohorts. 36 refs., 2 figs., 3 tabs.

  16. Construction of Commercial Sweet Cherry Linkage Maps and QTL Analysis for Trunk Diameter.

    Science.gov (United States)

    Wang, Jing; Zhang, Kaichun; Zhang, Xiaoming; Yan, Guohua; Zhou, Yu; Feng, Laibao; Ni, Yang; Duan, Xuwei

    2015-01-01

    A cross between the sweet cherry (Prunus avium) cultivars 'Wanhongzhu' and 'Lapins' was performed to create a mapping population suitable for the construction of a linkage map. The specific-locus amplified fragment (SLAF) sequencing technique used as a single nucleotide polymorphism (SNP) discovery platform and generated 701 informative genotypic assays; these, along with 16 microsatellites (SSRs) and the incompatibility (S) gene, were used to build a map which comprised 8 linkage groups (LGs) and covered a genetic distance of 849.0 cM. The mean inter-marker distance was 1.18 cM and there were few gaps > 5 cM in length. Marker collinearity was maintained with the established peach genomic sequence. The map was used to show that trunk diameter (TD) is under the control of 4 loci, mapping to 3 different LGs. Different locus influenced TD at a varying stage of the tree's development. The high density 'W×L' genetic linkage map has the potential to enable high-resolution identification of QTLs of agronomically relevant traits, and accelerate sweet cherry breeding.

  17. Construction of Commercial Sweet Cherry Linkage Maps and QTL Analysis for Trunk Diameter.

    Directory of Open Access Journals (Sweden)

    Jing Wang

    Full Text Available A cross between the sweet cherry (Prunus avium cultivars 'Wanhongzhu' and 'Lapins' was performed to create a mapping population suitable for the construction of a linkage map. The specific-locus amplified fragment (SLAF sequencing technique used as a single nucleotide polymorphism (SNP discovery platform and generated 701 informative genotypic assays; these, along with 16 microsatellites (SSRs and the incompatibility (S gene, were used to build a map which comprised 8 linkage groups (LGs and covered a genetic distance of 849.0 cM. The mean inter-marker distance was 1.18 cM and there were few gaps > 5 cM in length. Marker collinearity was maintained with the established peach genomic sequence. The map was used to show that trunk diameter (TD is under the control of 4 loci, mapping to 3 different LGs. Different locus influenced TD at a varying stage of the tree's development. The high density 'W×L' genetic linkage map has the potential to enable high-resolution identification of QTLs of agronomically relevant traits, and accelerate sweet cherry breeding.

  18. A generalization of Kempe's linkages

    Institute of Scientific and Technical Information of China (English)

    MAO De-can; LUO Yao-zhi; YOU Zhong

    2007-01-01

    A new, general type of planar linkages is presented, which extends the classical linkages developed by Kempe consisting of two single-looped kinematic chains of linkages, interconnected by revolute hinges. Together with a locking device, these new linkages have only one degree of freedom (DOF), which makes them ideal for serving as deployable structures for different purposes. Here, we start with a fresh matrix method of analysis for double-loop planar linkages, using 2D transformation matrices and a new symbolic notation. Further inspection for one case of Kempe's linkages is provided. Basing on the inspection, by means of some novel algebraic and geometric techniques, one particularly fascinating solution was found. Physical models were built to show that the derivation in this paper is valid and the new mechanisms are correct.

  19. 偏执型与未分化型精神分裂症家系两个靶染色体易感位点的连锁分析%Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia

    Institute of Scientific and Technical Information of China (English)

    曾丽苹; 龙志高; 戴和平; 张灼华; 夏家辉; 赵靖平; 夏昆; 胡正茂; 穆莉莉; 梅桂森; 路秀玲; 郑永军; 李培建; 张瑛雪; 潘乾

    2011-01-01

    were performed on 242 individuals from 36 schizophrenia pedigrees, including 19 paranoid schizophrenia and 17 undifferentiated schizophrenia pedigrees, from Henan province of China using 5 microsatellite markers in the chromosome region 1q21-25 and 8 microsatellite markers in the chromosome region 6p21-25, which were the candidates of previous studies. All affected subjects were diagnosed and typed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-Ⅳ-TR; American Psychiatric Association, 2000). All subjects signed informed consent. Results In chromosome 1, parametric analysis under the dominant inheritance mode of all 36 pedigrees showed that the maximum multi-point heterogeneity Log of odds score method (HLOD) score was 1.33 (α=0.38). The non-parametric analysis and the single point and multi-point nonparametric linkage (NPL) scores suggested linkage at D1S484, D1S2878, and D1S196. In the 19 paranoid schizophrenias pedigrees, linkage was not observed for any of the 5 markers. In the 17 undifferentiated schizophrenia pedigrees, the multi-point NPL score was 1.60 (P=0.0367) at D1S484. The single point NPL score was 1.95 (P=0.0145) and the multi-point NPL score was 2.39 (P=0.0041) at D1S2878. Additionally, the multi-point NPL score was 1.74 (P=0.0255) at D1S196. These same three loci showed suggestive linkage during the integrative analysis of all 36 pedigrees. In chromosome 6, parametric linkage analysis under the dominant and recessive inheritance and the non-parametric linkage analysis of all 36 pedigrees and the 17 undifferentiated schizophrenia pedigrees, linkage was not observed for any of the 8 markers. In the 19 paranoid schizophrenias pedigrees, parametric analysis showed that under recessive inheritance mode the maximum single-point HLOD score was 1.26 (α=0.40) and the multi-point HLOD was 1.12 (α=0.38) at D6S289 in the chromosome 6p23. In nonparametric analysis, the single-point NPL

  20. 分布函数的非参数最小二乘估计%NON-PARAMETRIC LEAST SQUARE ESTIMATION OF DISTRIBUTION FUNCTION

    Institute of Scientific and Technical Information of China (English)

    柴根象; 花虹; 尚汉冀

    2002-01-01

    By using the non-parametric least square method, the strong consistent estimations of distribution function and failure function are established,where the distribution function F(x) after logist transformation is assumed to be approximated by a polynomial.The performance of simulation shows that the estimations are highly satisfactory.

  1. Comparing non-parametric methods for ungrouping coarsely aggregated age-specific distributions

    DEFF Research Database (Denmark)

    Rizzi, Silvia; Thinggaard, Mikael; Vaupel, James W.

    2016-01-01

    Demographers have often access to vital statistics that are less than ideal for the purpose of their research. In many instances demographic data are reported in coarse histograms, where the values given are only the summation of true latent values, thereby making detailed analysis troublesome. O...

  2. Tremor Detection Using Parametric and Non-Parametric Spectral Estimation Methods : A Comparison with Clinical Assessment

    NARCIS (Netherlands)

    Martinez Manzanera, Octavio; Elting, Jan Willem; van der Hoeven, Johannes H; Maurits, Natasha M

    2016-01-01

    In the clinic, tremor is diagnosed during a time-limited process in which patients are observed and the characteristics of tremor are visually assessed. For some tremor disorders, a more detailed analysis of these characteristics is needed. Accelerometry and electromyography can be used to obtain a

  3. Joint multi-population analysis for genetic linkage of bipolar disorder or "wellness" to chromosome 4p.

    Science.gov (United States)

    Visscher, P M; Haley, C S; Ewald, H; Mors, O; Egeland, J; Thiel, B; Ginns, E; Muir, W; Blackwood, D H

    2005-02-05

    To test the hypothesis that the same genetic loci confer susceptibility to, or protection from, disease in different populations, and that a combined analysis would improve the map resolution of a common susceptibility locus, we analyzed data from three studies that had reported linkage to bipolar disorder in a small region on chromosome 4p. Data sets comprised phenotypic information and genetic marker data on Scottish, Danish, and USA extended pedigrees. Across the three data sets, 913 individuals appeared in the pedigrees, 462 were classified, either as unaffected (323) or affected (139) with unipolar or bipolar disorder. A consensus linkage map was created from 14 microsatellite markers in a 33 cM region. Phenotypic and genetic data were analyzed using a variance component (VC) and allele sharing method. All previously reported elevated test statistics in the region were confirmed with one or both analysis methods, indicating the presence of one or more susceptibility genes to bipolar disorder in the three populations in the studied chromosome segment. When the results from both the VC and allele sharing method were considered, there was strong evidence for a susceptibility locus in the data from Scotland, some evidence in the data from Denmark and relatively less evidence in the data from the USA. The test statistics from the Scottish data set dominated the test statistics from the other studies, and no improved map resolution for a putative genetic locus underlying susceptibility in all three studies was obtained. Studies reporting linkage to the same region require careful scrutiny and preferably joint or meta analysis on the same basis in order to ensure that the results are truly comparable. (c) 2004 Wiley-Liss, Inc.

  4. Economic capacity estimation in fisheries: A non-parametric ray approach

    Energy Technology Data Exchange (ETDEWEB)

    Pascoe, Sean; Tingley, Diana [Centre for the Economics and Management of Aquatic Resources (CEMARE), University of Portsmouth, Boathouse No. 6, College Road, HM Naval Base, Portsmouth PO1 3LJ (United Kingdom)

    2006-05-15

    Data envelopment analysis (DEA) has generally been adopted as the most appropriate methodology for the estimation of fishing capacity, particularly in multi-species fisheries. More recently, economic DEA methods have been developed that incorporate the costs and benefits of increasing capacity utilisation. One such method was applied to estimate the capacity utilisation and output of the Scottish fleet. By comparing the results of the economic and traditional DEA approaches, it can be concluded that many fleet segments are operating at or close to full capacity, and that the vessels defining the frontier are operating consistent with profit maximising behaviour. (author)

  5. Considerations in using linkage analysis as a presymptomatic test for Huntington's disease.

    Science.gov (United States)

    Farrer, L A; Myers, R H; Cupples, L A; Conneally, P M

    1988-09-01

    The polymorphic locus D4S10 that is genetically linked to the locus for Huntington's disease (HD) has made possible a presymptomatic test for those at risk. Because the symptoms of this progressively debilitating and fatal illness are not usually manifest until adulthood, the outcome of the test will influence major decisions about career, marriage, and procreation. Several differential diagnoses must be considered before using the test if HD is not confirmed in at least one family member. Review of a large number of pedigrees has shown that 40% of persons at risk do not have appropriate family structure for a linkage test. Furthermore, uncooperative or inaccessible relatives may make this test infeasible for many others who wish to be tested. Linkage phase, which must be known in the affected parent for an informative test, can be determined using one or more of 12 probe-enzyme combinations for D4S10. Although the polymorphism information content (PIC) value for any one RFLP is less than 40%, the PIC value for the haplotype of the two G8 HindIII, pK083 EcoRI, and R7 BglII RFLPs is greater than 88%. We have developed a scheme to incorporate linkage data and age at onset information adjusted for censored observations, sex of affected parent, and familial correlation for age at onset, using the computer program MLINK for calculation of risk of having HD. Simulated experiments showed that proper age at onset adjustment is crucial to the calculation of the probability of risk. A formal presymptomatic testing protocol, including pre- and post-test counselling, psychological testing, and paternity testing is recommended. Many of these considerations are illustrated in several actual test cases.

  6. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

    Science.gov (United States)

    Ptacek, L J; Tyler, F; Trimmer, J S; Agnew, W S; Leppert, M

    1991-01-01

    Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an independent clone, we have demonstrated close genetic linkage between an NaCh gene and the HYPP locus in another family. With physiological data demonstrating abnormal NaCh function in HYPP patients, the absence of any obligate recombinations in the two families strengthens the argument that this NaCh gene is the site of the defect in this disorder. PMID:1651050

  7. Linkage Map Construction and Quantitative Trait Loci Analysis for Bolting Based on a Double Haploid Population of Brassica rapa

    Institute of Scientific and Technical Information of China (English)

    Xu Yang; Yang-Jun Yu; Feng-Lan Zhang; Zhi-Rong Zou; Xiu-Yun Zhao; De-Shuang Zhang; Jia-Bing Xu

    2007-01-01

    Early bolting of Chinese cabbage (Brassica rapa L.) during spring cultivation often has detrimental effects on the yield and quality of the harvested products. Breeding late bolting varieties is a major objective of Chinese cabbage breeding programs. in order to analyze the genetic basis of bolting traits, a genetic map of B. rapa was constructed based on amplified fragment-length polymorphism (AFLP), sequence-related amplified polymorphism (SRAP), simple sequence repeat (SSR), random amplification of polymorphic DNA (RAPD), and isozyme markers. Marker analysis was carried out on 81 double haploid (DH) lines obtained by mlcrospore culture from F1 progeny of two homozygous parents: B. rapa L. ssp. pekinensis (BY) (an extra-early bolting Chinese cabbage line) and B. rapa L. ssp. rapifera (MM) (an extra-late bolting European turnip line). A total of 326 markers including 130 AFLPs, 123 SRAPs, 16 SSRs, 43RAPDs and 14 isozymes were used to construct a linkage map with 10 linkage groups covering 882 cM with an average distance of 2.71 cM between loci. The bolting trait of each DH line was evaluated by the bolting index under controlled conditions. Quantitative trait loci (QTL) analysis was conducted using multiple QTL model mapping with MapQTL5.0 software. Eight QTLs controlling bolting resistance were identified. These QTLs, accounting for 14.1% to 25.2% of the phenotyplc variation with positive additive effects, were distributed into three linkage groups. These results provide useful information for molecular marker-assisted selection of late bolting traits in Chinese cabbage breeding programs.

  8. Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers

    Energy Technology Data Exchange (ETDEWEB)

    Lebo, R.V.; Lynch, E.D.; Golbus, M.S. (Univ. of California, San Francisco (United States)); Bird, T.D. (Univ. of Washington, Seattle (United States)); Barker, D.F.; O' Connell, P.; Chance, P.F. (Univ. of Utah, Salt Lake City (United States))

    1992-01-01

    This study demonstrates a clear and current role for multicolor in situ hybridization in expediting positional cloning studies of unknown disease genes. Nine polymorphic DNA cosmids have been mapped to eight ordered locations spanning the Charcot-Marie-Tooth type 1 (CMT1A) disease gene region in distal band 17p11.2, by multicolor in situ hybridization. When used with linkage analysis, these methods have generated a fine physical map and have firmly assigned the CMT1A gene to distal band 17p11.2. Linkage analysis with four CMT1A pedigrees mapped the CMT1A gene with respect to two flanking markers. Additional loci were physically mapped and ordered by in situ hybridization and analysis of phase-known recombinants in CMT1A pedigrees. These data demonstrate the ability of in situ hybridization to resolve loci within 0.5 Mb on early-metaphase chromosomes. Multicolor in situ hybridization also excluded the possibility of pericentric inversions in two unrelated patients with CMT1 and neurofibromatosis type 1. When used with pulsed-field gel electrophoresis, multicolor in situ hybridization can establish physical location, order, and distance in closely spaced chromosome loci.

  9. Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis

    Energy Technology Data Exchange (ETDEWEB)

    Ellison, K.A.; Fill, C.P. (Baylor College of Medicine, Houston, TX (United States)); Terwililger, J.; Percy, A.K.; Zobhbi, H. (Columbia University, NY (United States)); DeGennaro, L.J.; Ott, J. (University of Massachusetts Medical School, Worcester (United States)); Anvret, M.; Martin-Gallardo, A. (National Institutes of Health, Bethesda, MD (United States))

    1992-02-01

    Rett syndrome is a neurologic disorder characterized by early normal development followed by regression, acquired deceleration of head growth, autism, ataxia, and sterotypic hand movements. The exclusive occurrence of the syndrome in females and the occurrence of a few familial cases with inheritance through maternal lines suggest that this disorder is most likely secondary to a mutation on the X chromosome. To address this hypothesis and to identify candidate regions for the Rett syndrome gene locus, genotypic analysis was performed in two families with maternally related affected half-sisters by using 63 DNA markers from the X chromosome. Nineteen of the loci studied were chosen for multipoint linkage analysis because they have been previously genetically mapped using a large number of meioses from reference families. Using the exclusion criterion of a lod score less than [minus]2, the authors were able to exclude the region between the Duchenne muscular dystrophy locus and the DXS456 locus. This region extends from Xp21.2 to Xq21-q23. The use of the multipoint linkage analysis approach outlined in this study should allow the exclusion of additional regions of the X chromosome as new markers are analyzed.

  10. Non-parametric reconstruction of an inflaton potential from Einstein–Cartan–Sciama–Kibble gravity with particle production

    Directory of Open Access Journals (Sweden)

    Shantanu Desai

    2016-04-01

    Full Text Available The coupling between spin and torsion in the Einstein–Cartan–Sciama–Kibble theory of gravity generates gravitational repulsion at very high densities, which prevents a singularity in a black hole and may create there a new universe. We show that quantum particle production in such a universe near the last bounce, which represents the Big Bang, gives the dynamics that solves the horizon, flatness, and homogeneity problems in cosmology. For a particular range of the particle production coefficient, we obtain a nearly constant Hubble parameter that gives an exponential expansion of the universe with more than 60 e-folds, which lasts about ∼10−42 s. This scenario can thus explain cosmic inflation without requiring a fundamental scalar field and reheating. From the obtained time dependence of the scale factor, we follow the prescription of Ellis and Madsen to reconstruct in a non-parametric way a scalar field potential which gives the same dynamics of the early universe. This potential gives the slow-roll parameters of cosmic inflation, from which we calculate the tensor-to-scalar ratio, the scalar spectral index of density perturbations, and its running as functions of the production coefficient. We find that these quantities do not significantly depend on the scale factor at the Big Bounce. Our predictions for these quantities are consistent with the Planck 2015 observations.

  11. Non-parametric reconstruction of an inflaton potential from Einstein-Cartan-Sciama-Kibble gravity with particle production

    Science.gov (United States)

    Desai, Shantanu; Popławski, Nikodem J.

    2016-04-01

    The coupling between spin and torsion in the Einstein-Cartan-Sciama-Kibble theory of gravity generates gravitational repulsion at very high densities, which prevents a singularity in a black hole and may create there a new universe. We show that quantum particle production in such a universe near the last bounce, which represents the Big Bang, gives the dynamics that solves the horizon, flatness, and homogeneity problems in cosmology. For a particular range of the particle production coefficient, we obtain a nearly constant Hubble parameter that gives an exponential expansion of the universe with more than 60 e-folds, which lasts about ∼10-42 s. This scenario can thus explain cosmic inflation without requiring a fundamental scalar field and reheating. From the obtained time dependence of the scale factor, we follow the prescription of Ellis and Madsen to reconstruct in a non-parametric way a scalar field potential which gives the same dynamics of the early universe. This potential gives the slow-roll parameters of cosmic inflation, from which we calculate the tensor-to-scalar ratio, the scalar spectral index of density perturbations, and its running as functions of the production coefficient. We find that these quantities do not significantly depend on the scale factor at the Big Bounce. Our predictions for these quantities are consistent with the Planck 2015 observations.

  12. Non-parametric reconstruction of an inflaton potential from Einstein-Cartan-Sciama-Kibble gravity with particle production

    CERN Document Server

    Desai, Shantanu

    2015-01-01

    The coupling between spin and torsion in the Einstein-Cartan-Sciama-Kibble theory of gravity generates gravitational repulsion at very high densities, which prevents a singularity in a black hole and may create there a new universe. We show that quantum particle production in such a universe near the last bounce, which represents the Big Bang gives the dynamics that solves the horizon, flatness, and homogeneity problems in cosmology. For a particular range of the particle production coefficient, we obtain a nearly constant Hubble parameter that gives an exponential expansion of the universe with more than 60 $e$-folds, which lasts about $\\sim 10^{-42}$ s. This scenario can thus explain cosmic inflation without requiring a fundamental scalar field and reheating. From the obtained time dependence of the scale factor, we follow the prescription of Ellis and Madsen to reconstruct in a non-parametric way a scalar field potential which gives the same dynamics of the early universe. This potential gives the slow-rol...

  13. Inferring the three-dimensional distribution of dust in the Galaxy with a non-parametric method: Preparing for Gaia

    CERN Document Server

    Kh., S Rezaei; Hanson, R J; Fouesneau, M

    2016-01-01

    We present a non-parametric model for inferring the three-dimensional (3D) distribution of dust density in the Milky Way. Our approach uses the extinction measured towards stars at different locations in the Galaxy at approximately known distances. Each extinction measurement is proportional to the integrated dust density along its line-of-sight. Making simple assumptions about the spatial correlation of the dust density, we can infer the most probable 3D distribution of dust across the entire observed region, including along sight lines which were not observed. This is possible because our model employs a Gaussian Process to connect all lines-of-sight. We demonstrate the capability of our model to capture detailed dust density variations using mock data as well as simulated data from the Gaia Universe Model Snapshot. We then apply our method to a sample of giant stars observed by APOGEE and Kepler to construct a 3D dust map over a small region of the Galaxy. Due to our smoothness constraint and its isotropy,...

  14. Super-resolution non-parametric deconvolution in modelling the radial response function of a parallel plate ionization chamber.

    Science.gov (United States)

    Kulmala, A; Tenhunen, M

    2012-11-07

    The signal of the dosimetric detector is generally dependent on the shape and size of the sensitive volume of the detector. In order to optimize the performance of the detector and reliability of the output signal the effect of the detector size should be corrected or, at least, taken into account. The response of the detector can be modelled using the convolution theorem that connects the system input (actual dose), output (measured result) and the effect of the detector (response function) by a linear convolution operator. We have developed the super-resolution and non-parametric deconvolution method for determination of the cylinder symmetric ionization chamber radial response function. We have demonstrated that the presented deconvolution method is able to determine the radial response for the Roos parallel plate ionization chamber with a better than 0.5 mm correspondence with the physical measures of the chamber. In addition, the performance of the method was proved by the excellent agreement between the output factors of the stereotactic conical collimators (4-20 mm diameter) measured by the Roos chamber, where the detector size is larger than the measured field, and the reference detector (diode). The presented deconvolution method has a potential in providing reference data for more accurate physical models of the ionization chamber as well as for improving and enhancing the performance of the detectors in specific dosimetric problems.

  15. A sharper view of Pal 5's tails: Discovery of stream perturbations with a novel non-parametric technique

    CERN Document Server

    Erkal, Denis; Belokurov, Vasily

    2016-01-01

    Only in the Milky Way is it possible to conduct an experiment which uses stellar streams to detect low-mass dark matter subhaloes. In smooth and static host potentials, tidal tails of disrupting satellites appear highly symmetric. However, dark perturbers induce density fluctuations that destroy this symmetry. Motivated by the recent release of unprecedentedly deep and wide imaging data around the Pal 5 stellar stream, we develop a new probabilistic, adaptive and non-parametric technique which allows us to bring the cluster's tidal tails into clear focus. Strikingly, we uncover a stream whose density exhibits visible changes on a variety of angular scales. We detect significant bumps and dips, both narrow and broad: two peaks on either side of the progenitor, each only a fraction of a degree across, and two gaps, $\\sim2^{\\circ}$ and $\\sim9^{\\circ}$ wide, the latter accompanied by a gargantuan lump of debris. This largest density feature results in a pronounced inter-tail asymmetry which cannot be made consist...

  16. The merger fraction of active and inactive galaxies in the local Universe through an improved non-parametric classification

    CERN Document Server

    Cotini, Stefano; Caccianiga, Alessandro; Colpi, Monica; Della Ceca, Roberto; Mapelli, Michela; Severgnini, Paola; Segreto, Alberto; 10.1093/mnras/stt358

    2013-01-01

    We investigate the possible link between mergers and the enhanced activity of supermassive black holes (SMBHs) at the centre of galaxies, by comparing the merger fraction of a local sample (0.003 =< z < 0.03) of active galaxies - 59 active galactic nuclei (AGN) host galaxies selected from the all-sky Swift BAT (Burst Alert Telescope) survey - with an appropriate control sample (247 sources extracted from the Hyperleda catalogue) that has the same redshift distribution as the BAT sample. We detect the interacting systems in the two samples on the basis of non-parametric structural indexes of concentration (C), asymmetry (A), clumpiness (S), Gini coefficient (G) and second order momentum of light (M20). In particular, we propose a new morphological criterion, based on a combination of all these indexes, that improves the identification of interacting systems. We also present a new software - PyCASSo (Python CAS Software) - for the automatic computation of the structural indexes. After correcting for the c...

  17. Prediction intervals for future BMI values of individual children: a non-parametric approach by quantile boosting.

    Science.gov (United States)

    Mayr, Andreas; Hothorn, Torsten; Fenske, Nora

    2012-01-25

    The construction of prediction intervals (PIs) for future body mass index (BMI) values of individual children based on a recent German birth cohort study with n = 2007 children is problematic for standard parametric approaches, as the BMI distribution in childhood is typically skewed depending on age. We avoid distributional assumptions by directly modelling the borders of PIs by additive quantile regression, estimated by boosting. We point out the concept of conditional coverage to prove the accuracy of PIs. As conditional coverage can hardly be evaluated in practical applications, we conduct a simulation study before fitting child- and covariate-specific PIs for future BMI values and BMI patterns for the present data. The results of our simulation study suggest that PIs fitted by quantile boosting cover future observations with the predefined coverage probability and outperform the benchmark approach. For the prediction of future BMI values, quantile boosting automatically selects informative covariates and adapts to the age-specific skewness of the BMI distribution. The lengths of the estimated PIs are child-specific and increase, as expected, with the age of the child. Quantile boosting is a promising approach to construct PIs with correct conditional coverage in a non-parametric way. It is in particular suitable for the prediction of BMI patterns depending on covariates, since it provides an interpretable predictor structure, inherent variable selection properties and can even account for longitudinal data structures.

  18. Non-parametric convolution based image-segmentation of ill-posed objects applying context window approach

    CERN Document Server

    Kumar, Upendra; Pal, Manoj Kumar

    2012-01-01

    Context-dependence in human cognition process is a well-established fact. Following this, we introduced the image segmentation method that can use context to classify a pixel on the basis of its membership to a particular object-class of the concerned image. In the broad methodological steps, each pixel was defined by its context window (CW) surrounding it the size of which was fixed heuristically. CW texture defined by the intensities of its pixels was convoluted with weights optimized through a non-parametric function supported by a backpropagation network. Result of convolution was used to classify them. The training data points (i.e., pixels) were carefully chosen to include all variety of contexts of types, i) points within the object, ii) points near the edge but inside the objects, iii) points at the border of the objects, iv) points near the edge but outside the objects, v) points near or at the edge of the image frame. Moreover the training data points were selected from all the images within image-d...

  19. Detecting correlation changes in multivariate time series: A comparison of four non-parametric change point detection methods.

    Science.gov (United States)

    Cabrieto, Jedelyn; Tuerlinckx, Francis; Kuppens, Peter; Grassmann, Mariel; Ceulemans, Eva

    2017-06-01

    Change point detection in multivariate time series is a complex task since next to the mean, the correlation structure of the monitored variables may also alter when change occurs. DeCon was recently developed to detect such changes in mean and\\or correlation by combining a moving windows approach and robust PCA. However, in the literature, several other methods have been proposed that employ other non-parametric tools: E-divisive, Multirank, and KCP. Since these methods use different statistical approaches, two issues need to be tackled. First, applied researchers may find it hard to appraise the differences between the methods. Second, a direct comparison of the relative performance of all these methods for capturing change points signaling correlation changes is still lacking. Therefore, we present the basic principles behind DeCon, E-divisive, Multirank, and KCP and the corresponding algorithms, to make them more accessible to readers. We further compared their performance through extensive simulations using the settings of Bulteel et al. (Biological Psychology, 98 (1), 29-42, 2014) implying changes in mean and in correlation structure and those of Matteson and James (Journal of the American Statistical Association, 109 (505), 334-345, 2014) implying different numbers of (noise) variables. KCP emerged as the best method in almost all settings. However, in case of more than two noise variables, only DeCon performed adequately in detecting correlation changes.

  20. Genomewide Linkage Analysis of Bipolar Disorder by Use of a High-Density Single-Nucleotide–Polymorphism (SNP) Genotyping Assay: A Comparison with Microsatellite Marker Assays and Finding of Significant Linkage to Chromosome 6q22

    Science.gov (United States)

    Middleton, F. A.; Pato, M. T.; Gentile, K. L.; Morley, C. P.; Zhao, X.; Eisener, A. F.; Brown, A.; Petryshen, T. L.; Kirby, A. N.; Medeiros, H.; Carvalho, C.; Macedo, A.; Dourado, A.; Coelho, I.; Valente, J.; Soares, M. J.; Ferreira, C. P.; Lei, M.; Azevedo, M. H.; Kennedy, J. L.; Daly, M. J.; Sklar, P.; Pato, C. N.

    2004-01-01

    We performed a linkage analysis on 25 extended multiplex Portuguese families segregating for bipolar disorder, by use of a high-density single-nucleotide–polymorphism (SNP) genotyping assay, the GeneChip Human Mapping 10K Array (HMA10K). Of these families, 12 were used for a direct comparison of the HMA10K with the traditional 10-cM microsatellite marker set and the more dense 4-cM marker set. This comparative analysis indicated the presence of significant linkage peaks in the SNP assay in chromosomal regions characterized by poor coverage and low information content on the microsatellite assays. The HMA10K provided consistently high information and enhanced coverage throughout these regions. Across the entire genome, the HMA10K had an average information content of 0.842 with 0.21-Mb intermarker spacing. In the 12-family set, the HMA10K-based analysis detected two chromosomal regions with genomewide significant linkage on chromosomes 6q22 and 11p11; both regions had failed to meet this strict threshold with the microsatellite assays. The full 25-family collection further strengthened the findings on chromosome 6q22, achieving genomewide significance with a maximum nonparametric linkage (NPL) score of 4.20 and a maximum LOD score of 3.56 at position 125.8 Mb. In addition to this highly significant finding, several other regions of suggestive linkage have also been identified in the 25-family data set, including two regions on chromosome 2 (57 Mb, NPL = 2.98; 145 Mb, NPL = 3.09), as well as regions on chromosomes 4 (91 Mb, NPL = 2.97), 16 (20 Mb, NPL = 2.89), and 20 (60 Mb, NPL = 2.99). We conclude that at least some of the linkage peaks we have identified may have been largely undetected in previous whole-genome scans for bipolar disorder because of insufficient coverage or information content, particularly on chromosomes 6q22 and 11p11. PMID:15060841

  1. Non-parametric PSF estimation from celestial transit solar images using blind deconvolution

    CERN Document Server

    Gonzalez, Adriana; Jacques, Laurent

    2016-01-01

    Context: Characterization of instrumental effects in astronomical imaging is important in order to extract accurate physical information from the observations. Optics are never perfect and the non-ideal path through the telescope is usually represented by the convolution of an ideal image with a Point Spread Function (PSF). Other sources of noise (read-out, Photon) also contaminate the image acquisition process. The problem of estimating both the PSF filter and a denoised image is called blind deconvolution and is ill-posed. Aims: We propose a blind deconvolution scheme that relies on image regularization. Contrarily to most methods presented in the literature, it does not assume a parametric model of the PSF and can thus be applied to any telescope. Methods: Our scheme uses a wavelet analysis image prior model and weak assumptions on the PSF filter's response. We use the observations from a celestial body transit where such object can be assumed to be a black disk. Such constraints limits the interchangeabil...

  2. Alternative methods of marginal abatement cost estimation: Non- parametric distance functions

    Energy Technology Data Exchange (ETDEWEB)

    Boyd, G.; Molburg, J. [Argonne National Lab., IL (United States). Decision and Information Sciences Div.; Prince, R. [USDOE Office of Environmental Analysis, Washington, DC (United States)

    1996-12-31

    This project implements a economic methodology to measure the marginal abatement costs of pollution by measuring the lost revenue implied by an incremental reduction in pollution. It utilizes observed performance, or `best practice`, of facilities to infer the marginal abatement cost. The initial stage of the project is to use data from an earlier published study on productivity trends and pollution in electric utilities to test this approach and to provide insights on its implementation to issues of cost-benefit analysis studies needed by the Department of Energy. The basis for this marginal abatement cost estimation is a relationship between the outputs and the inputs of a firm or plant. Given a fixed set of input resources, including quasi-fixed inputs like plant and equipment and variable inputs like labor and fuel, a firm is able to produce a mix of outputs. This paper uses this theoretical view of the joint production process to implement a methodology and obtain empirical estimates of marginal abatement costs. These estimates are compared to engineering estimates.

  3. Non-parametric causality detection: An application to social media and financial data

    Science.gov (United States)

    Tsapeli, Fani; Musolesi, Mirco; Tino, Peter

    2017-10-01

    According to behavioral finance, stock market returns are influenced by emotional, social and psychological factors. Several recent works support this theory by providing evidence of correlation between stock market prices and collective sentiment indexes measured using social media data. However, a pure correlation analysis is not sufficient to prove that stock market returns are influenced by such emotional factors since both stock market prices and collective sentiment may be driven by a third unmeasured factor. Controlling for factors that could influence the study by applying multivariate regression models is challenging given the complexity of stock market data. False assumptions about the linearity or non-linearity of the model and inaccuracies on model specification may result in misleading conclusions. In this work, we propose a novel framework for causal inference that does not require any assumption about a particular parametric form of the model expressing statistical relationships among the variables of the study and can effectively control a large number of observed factors. We apply our method in order to estimate the causal impact that information posted in social media may have on stock market returns of four big companies. Our results indicate that social media data not only correlate with stock market returns but also influence them.

  4. A new measure for gene expression biclustering based on non-parametric correlation.

    Science.gov (United States)

    Flores, Jose L; Inza, Iñaki; Larrañaga, Pedro; Calvo, Borja

    2013-12-01

    One of the emerging techniques for performing the analysis of the DNA microarray data known as biclustering is the search of subsets of genes and conditions which are coherently expressed. These subgroups provide clues about the main biological processes. Until now, different approaches to this problem have been proposed. Most of them use the mean squared residue as quality measure but relevant and interesting patterns can not be detected such as shifting, or scaling patterns. Furthermore, recent papers show that there exist new coherence patterns involved in different kinds of cancer and tumors such as inverse relationships between genes which can not be captured. The proposed measure is called Spearman's biclustering measure (SBM) which performs an estimation of the quality of a bicluster based on the non-linear correlation among genes and conditions simultaneously. The search of biclusters is performed by using a evolutionary technique called estimation of distribution algorithms which uses the SBM measure as fitness function. This approach has been examined from different points of view by using artificial and real microarrays. The assessment process has involved the use of quality indexes, a set of bicluster patterns of reference including new patterns and a set of statistical tests. It has been also examined the performance using real microarrays and comparing to different algorithmic approaches such as Bimax, CC, OPSM, Plaid and xMotifs. SBM shows several advantages such as the ability to recognize more complex coherence patterns such as shifting, scaling and inversion and the capability to selectively marginalize genes and conditions depending on the statistical significance. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  5. Improving linkage analysis in outcrossed forest trees - an example from Acacia mangium.

    Science.gov (United States)

    Butcher, A.; Williams, R.; Whitaker, D.; Ling, S.; Speed, P.; Moran, F.

    2002-05-01

    Mapping in forest trees generally relies on outbred pedigrees in which genetic segregation is the result of meiotic recombination from both parents. The currently available mapping packages are not optimal for outcrossed pedigrees as they either cannot order phase-ambiguous data or only use pairwise information when ordering loci within linkage groups. A new package, OUTMAP, has been developed for mapping codominant loci in outcrossed trees. A comparison of maps produced using linkage data from two pedigrees of Acacia mangium Willd demonstrated that the marker orders produced using OUTMAP were consistently of higher likelihood than those produced by JOINMAP. In addition, the maps were produced more efficiently, without the need for recoding data or the detailed investigation of pairwise recombination fractions which was necessary to select the optimal marker order using JOINMAP. Distances between markers often varied from those calculated by JOINMAP, resulting in an increase in the estimated genome length. OUTMAP can be used with all segregation types to determine phase and to calculate the likelihood of alternative marker orders, with a choice of three optimisation methods.

  6. Non-parametric deprojection of NIKA SZ observations: Pressure distribution in the Planck-discovered cluster PSZ1 G045.85+57.71

    Science.gov (United States)

    Ruppin, F.; Adam, R.; Comis, B.; Ade, P.; André, P.; Arnaud, M.; Beelen, A.; Benoît, A.; Bideaud, A.; Billot, N.; Bourrion, O.; Calvo, M.; Catalano, A.; Coiffard, G.; D'Addabbo, A.; De Petris, M.; Désert, F.-X.; Doyle, S.; Goupy, J.; Kramer, C.; Leclercq, S.; Macías-Pérez, J. F.; Mauskopf, P.; Mayet, F.; Monfardini, A.; Pajot, F.; Pascale, E.; Perotto, L.; Pisano, G.; Pointecouteau, E.; Ponthieu, N.; Pratt, G. W.; Revéret, V.; Ritacco, A.; Rodriguez, L.; Romero, C.; Schuster, K.; Sievers, A.; Triqueneaux, S.; Tucker, C.; Zylka, R.

    2017-01-01

    The determination of the thermodynamic properties of clusters of galaxies at intermediate and high redshift can bring new insights into the formation of large-scale structures. It is essential for a robust calibration of the mass-observable scaling relations and their scatter, which are key ingredients for precise cosmology using cluster statistics. Here we illustrate an application of high resolution (R 0.02 R500) to its outskirts (R 3 R500) non-parametrically for the first time at intermediate redshift. The constraints on the resulting pressure profile allow us to reduce the relative uncertainty on the integrated Compton parameter by a factor of two compared to the Planck value. Combining the tSZ data and the deprojected electronic density profile from XMM-Newton allows us to undertake a hydrostatic mass analysis, for which we study the impact of a spherical model assumption on the total mass estimate. We also investigate the radial temperature and entropy distributions. These data indicate that PSZ1 G045.85+57.71 is a massive (M500 5.5 × 1014M⊙) cool-core cluster. This work is part of a pilot study aiming at optimizing the treatment of the NIKA2 tSZ large program dedicated to the follow-up of SZ-discovered clusters at intermediate and high redshifts. This study illustrates the potential of NIKA2 to put constraints on thethermodynamic properties and tSZ-scaling relations of these clusters, and demonstrates the excellent synergy between tSZ and X-ray observations of similar angular resolution.

  7. Estimation from PET data of transient changes in dopamine concentration induced by alcohol: support for a non-parametric signal estimation method

    Energy Technology Data Exchange (ETDEWEB)

    Constantinescu, C C; Yoder, K K; Normandin, M D; Morris, E D [Department of Radiology, Indiana University School of Medicine, Indianapolis, IN (United States); Kareken, D A [Department of Neurology, Indiana University School of Medicine, Indianapolis, IN (United States); Bouman, C A [Weldon School of Biomedical Engineering, Purdue University, West Lafayette, IN (United States); O' Connor, S J [Department of Psychiatry, Indiana University School of Medicine, Indianapolis, IN (United States)], E-mail: emorris@iupui.edu

    2008-03-07

    We previously developed a model-independent technique (non-parametric ntPET) for extracting the transient changes in neurotransmitter concentration from paired (rest and activation) PET studies with a receptor ligand. To provide support for our method, we introduced three hypotheses of validation based on work by Endres and Carson (1998 J. Cereb. Blood Flow Metab. 18 1196-210) and Yoder et al (2004 J. Nucl. Med. 45 903-11), and tested them on experimental data. All three hypotheses describe relationships between the estimated free (synaptic) dopamine curves (F{sup DA}(t)) and the change in binding potential ({delta}BP). The veracity of the F{sup DA}(t) curves recovered by nonparametric ntPET is supported when the data adhere to the following hypothesized behaviors: (1) {delta}BP should decline with increasing DA peak time, (2) {delta}BP should increase as the strength of the temporal correlation between F{sup DA}(t) and the free raclopride (F{sup RAC}(t)) curve increases, (3) {delta}BP should decline linearly with the effective weighted availability of the receptor sites. We analyzed regional brain data from 8 healthy subjects who received two [{sup 11}C]raclopride scans: one at rest, and one during which unanticipated IV alcohol was administered to stimulate dopamine release. For several striatal regions, nonparametric ntPET was applied to recover F{sup DA}(t), and binding potential values were determined. Kendall rank-correlation analysis confirmed that the F{sup DA}(t) data followed the expected trends for all three validation hypotheses. Our findings lend credence to our model-independent estimates of F{sup DA}(t). Application of nonparametric ntPET may yield important insights into how alterations in timing of dopaminergic neurotransmission are involved in the pathologies of addiction and other psychiatric disorders.

  8. Effective Linkages of Continuum of Care for Improving Neonatal, Perinatal, and Maternal Mortality: A Systematic Review and Meta-Analysis.

    Directory of Open Access Journals (Sweden)

    Kimiyo Kikuchi

    Full Text Available Continuum of care has the potential to improve maternal, newborn, and child health (MNCH by ensuring care for mothers and children. Continuum of care in MNCH is widely accepted as comprising sequential time (from pre-pregnancy to motherhood and childhood and space dimensions (from community-family care to clinical care. However, it is unclear which linkages of care could have a greater effect on MNCH outcomes. The objective of the present study is to assess the effectiveness of different continuum of care linkages for reducing neonatal, perinatal, and maternal mortality in low- and middle-income countries.We searched for randomized and quasi-randomized controlled trials that addressed two or more linkages of continuum of care and attempted to increase mothers' uptake of antenatal care, skilled birth attendance, and postnatal care. The outcome variables were neonatal, perinatal, and maternal mortality.Out of the 7,142 retrieved articles, we selected 19 as eligible for the final analysis. Of these studies, 13 used packages of intervention that linked antenatal care, skilled birth attendance, and postnatal care. One study each used packages that linked antenatal care and skilled birth attendance or skilled birth attendance and postnatal care. Four studies used an intervention package that linked antenatal care and postnatal care. Among the packages that linked antenatal care, skilled birth attendance, and postnatal care, a significant reduction was observed in combined neonatal, perinatal, and maternal mortality risks (RR 0.83; 95% CI 0.77 to 0.89, I2 79%. Furthermore, this linkage reduced combined neonatal, perinatal, and maternal mortality when integrating the continuum of care space dimension (RR 0.85; 95% CI 0.77 to 0.93, I2 81%.Our review suggests that continuous uptake of antenatal care, skilled birth attendance, and postnatal care is necessary to improve MNCH outcomes in low- and middle-income countries. The review was conclusive for the

  9. Cointegration and causality analysis of dynamic linkage between stock market and equity mutual funds in Australia

    Directory of Open Access Journals (Sweden)

    Sasipa Pojanavatee

    2014-12-01

    Full Text Available The existing literature finds conflicting results on the magnitude of price linkages between equity mutual funds and the stock market. The study contends that in an optimal lagged model, the expectations of future prices using knowledge of past price behaviour in a particular equity mutual fund category will improve forecasts of prices of other equity mutual fund categories and the stock market index. The evidence shows that the long-run pricing of equity mutual funds is cointegrated with the stock market index. In the short run, the results indicate that some equity mutual fund categories possess both long-run and short-run exogeneity with the stock market. Therefore, the short-run dynamic indicates short-run Granger causal links running between different equity mutual fund categories.

  10. A genome-wide linkage analysis for the personality trait neuroticism in the Irish affected sib-pair study of alcohol dependence.

    Science.gov (United States)

    Kuo, Po-Hsiu; Neale, Michael C; Riley, Brien P; Patterson, Diana G; Walsh, Dermot; Prescott, Carol A; Kendler, Kenneth S

    2007-06-05

    Neuroticism is a personality trait which reflects individual differences in emotional stability and vulnerability to stress and anxiety. Consistent evidence shows substantial genetic influences on variation in this trait. The present study seeks to identify regions containing susceptibility loci for neuroticism using a selected sib-pair sample from Ireland. Using Merlin regress, we conducted a 4 cM whole-genome linkage analysis on 714 sib-pairs. Evidence for linkage to neuroticism was found on chromosomes 11p, 12q, and 15q. The highest linkage peak was on 12q at marker D12S1638 with a Lod score of 2.13 (-log p = 2.76, empirical P-value neuroticism, with male specific linkage regions on chromosomes 1, 4, 11, 12, 15, 16, and 22, and female specific linkage regions on chromosomes 2, 4, 9, 12, 13, and 18. Some genome regions reported in the present study replicate findings from previous linkage studies of neuroticism. These results, together with prior studies, indicate several potential regions for quantitative trait loci for neuroticism that warrant further study.

  11. Identification of a candidate gene for panicle length in rice (Oryza sativa L. via association and linkage analysis

    Directory of Open Access Journals (Sweden)

    Erbao eLiu

    2016-05-01

    Full Text Available Panicle length (PL is an important trait for improving panicle architecture and grain yield in rice (Oryza sativa L.. Three populations were used to identify QTLs and candidate genes associated with PL. Four QTLs for PL were detected on chromosomes 4, 6 and 9 through linkage mapping in the recombinant inbred line population derived from a cross between the cultivars Xiushui79 (short panicle and C-bao (long panicle. Ten SSR markers associated with PL were detected on chromosomes 2, 3, 5, 6, 8, 9 and 10 in the natural population consisting of 540 accessions collected from East and Southeast Asia. A major locus on chromosome 9 with the largest effect was identified via both linkage and association mapping. LONG PANICLE 1 (LP1 locus was delimited to a 90-kb region of the long arm of chromosome 9 through fine mapping using a single segment segregating F2 population. Two single nucleotide polymorphisms (SNPs leading to amino acid changes were detected in the third and fifth exons of LP1. LP1encodes a Remorin_C-containing protein of unknown function with homologs in a variety of species. Sequencing analysis of LP1 in two parents and 103 rice accessions indicated that SNP1 is associated with panicle length. The LP1 allele of Xiushui79 leads to reduced panicle length, whereas the allele of C-bao relieves the suppression of panicle length. LP1 and the elite alleles can be used to improve panicle length in rice.

  12. Construction of a linkage map and QTL analysis of horticultural traits for watermelon [Citrullus lanatus (THUNB.) MATSUM & NAKAI] using RAPD, RFLP and ISSR markers.

    Science.gov (United States)

    Hashizume, T; Shimamoto, I; Hirai, M

    2003-03-01

    We have been constructing linkage maps for watermelon ( Citrullus lanatus) on the basis of random amplified polymorphic DNA (RAPD), restriction fragment length polymorphism (RFLP), inter-simple sequence repeats (ISSRs) and isozymes using an F(2) population derived from a crossing between a cultivated inbred line (H-7; C. lanatus) and an African wild form (SA-1; C. lanatus). A total of 120 F(2) plants was used for construction of a linkage map using 477 RAPDs, 53 RFLPs, 23 ISSRs and one isozyme markers. Linkage analysis revealed that 554 loci could be mapped to 11 linkage groups that extended for 2,384 centimorgans (cM). While a BC(1) population [(H-7 x SA-1) x H-7] consisting of 60 individuals was grown and scored for quantitative traits. Another linkage map with a total length of 1,729 cM was constructed in the BC(1) using genetic markers found to segregate in the F(2) population. A QTL analysis was applied by means of interval mapping for locating such agronomic traits as hardness of rind, Brix of flesh juice, flesh color (red and yellow) and rind color. The relative order of markers in the BC(1) map was essentially the same as that on the linkage map in the F(2). A total of five QTLs for four agronomic traits was detected. The QTL for hardness of rind was mapped on group 4. The linkage group 8 contained the QTL for sugar content of the flesh as expressed in Brix of the juice. The QTL for red flesh color was detected on groups 2 and 8. The QTL for rind color mapped on the group 3. The present map and QTL analysis may provide a useful tool for breeders by introducing valuable wild watermelon genes to cultivars.

  13. Genomewide High-Density SNP Linkage Analysis of 236 Japanese Families Supports the Existence of Schizophrenia Susceptibility Loci on Chromosomes 1p, 14q, and 20p

    Science.gov (United States)

    Arinami, Tadao; Ohtsuki, Tsuyuka; Ishiguro, Hiroki; Ujike, Hiroshi; Tanaka, Yuji; Morita, Yukitaka; Mineta, Mari; Takeichi, Masashi; Yamada, Shigeto; Imamura, Akira; Ohara, Koichi; Shibuya, Haruo; Ohara, Kenshiro; Suzuki, Yasuo; Muratake, Tatsuyuki; Kaneko, Naoshi; Someya, Toshiyuki; Inada, Toshiya; Yoshikawa, Takeo; Toyota, Tomoko; Yamada, Kazuo; Kojima, Takuya; Takahashi, Sakae; Osamu, Ohmori; Shinkai, Takahiro; Nakamura, Michiko; Fukuzako, Hiroshi; Hashiguchi, Tomo; Niwa, Shin-ich; Ueno, Takuya; Tachikawa, Hirokazu; Hori, Takafumi; Asada, Takashi; Nanko, Shinichiro; Kunugi, Hiroshi; Hashimoto, Ryota; Ozaki, Norio; Iwata, Nakao; Harano, Mutsuo; Arai, Heii; Ohnuma, Tohru; Kusumi, Ichiro; Koyama, Tsukasa; Yoneda, Hiroshi; Fukumaki, Yasuyuki; Shibata, Hiroki; Kaneko, Sunao; Higuchi, Hisashi; Yasui-Furukori, Norio; Numachi, Yohtaro; Itokawa, Masanari; Okazaki, Yuji

    2005-01-01

    The Japanese Schizophrenia Sib-Pair Linkage Group (JSSLG) is a multisite collaborative study group that was organized to create a national resource for affected sib pair (ASP) studies of schizophrenia in Japan. We used a high-density single-nucleotide–polymorphism (SNP) genotyping assay, the Illumina BeadArray linkage mapping panel (version 4) comprising 5,861 SNPs, to perform a genomewide linkage analysis of JSSLG samples comprising 236 Japanese families with 268 nonindependent ASPs with schizophrenia. All subjects were Japanese. Among these families, 122 families comprised the same subjects analyzed with short tandem repeat markers. All the probands and their siblings, with the exception of seven siblings with schizoaffective disorder, had schizophrenia. After excluding SNPs with high linkage disequilibrium, we found significant evidence of linkage of schizophrenia to chromosome 1p21.2-1p13.2 (LOD=3.39) and suggestive evidence of linkage to 14q11.2 (LOD=2.87), 14q11.2-q13.2 (LOD=2.33), and 20p12.1-p11.2 (LOD=2.33). Although linkage to these regions has received little attention, these regions are included in or partially overlap the 10 regions reported by Lewis et al. that passed the two aggregate criteria of a meta-analysis. Results of the present study—which, to our knowledge, is the first genomewide analysis of schizophrenia in ASPs of a single Asian ethnicity that is comparable to the analyses done of ASPs of European descent—indicate the existence of schizophrenia susceptibility loci that are common to different ethnic groups but that likely have different ethnicity-specific effects. PMID:16380906

  14. Semi-automatic liver tumor segmentation with hidden Markov measure field model and non-parametric distribution estimation.

    Science.gov (United States)

    Häme, Yrjö; Pollari, Mika

    2012-01-01

    A novel liver tumor segmentation method for CT images is presented. The aim of this work was to reduce the manual labor and time required in the treatment planning of radiofrequency ablation (RFA), by providing accurate and automated tumor segmentations reliably. The developed method is semi-automatic, requiring only minimal user interaction. The segmentation is based on non-parametric intensity distribution estimation and a hidden Markov measure field model, with application of a spherical shape prior. A post-processing operation is also presented to remove the overflow to adjacent tissue. In addition to the conventional approach of using a single image as input data, an approach using images from multiple contrast phases was developed. The accuracy of the method was validated with two sets of patient data, and artificially generated samples. The patient data included preoperative RFA images and a public data set from "3D Liver Tumor Segmentation Challenge 2008". The method achieved very high accuracy with the RFA data, and outperformed other methods evaluated with the public data set, receiving an average overlap error of 30.3% which represents an improvement of 2.3% points to the previously best performing semi-automatic method. The average volume difference was 23.5%, and the average, the RMS, and the maximum surface distance errors were 1.87, 2.43, and 8.09 mm, respectively. The method produced good results even for tumors with very low contrast and ambiguous borders, and the performance remained high with noisy image data.

  15. A sharper view of Pal 5's tails: discovery of stream perturbations with a novel non-parametric technique

    Science.gov (United States)

    Erkal, Denis; Koposov, Sergey E.; Belokurov, Vasily

    2017-09-01

    Only in the Milky Way is it possible to conduct an experiment that uses stellar streams to detect low-mass dark matter subhaloes. In smooth and static host potentials, tidal tails of disrupting satellites appear highly symmetric. However, perturbations from dark subhaloes, as well as from GMCs and the Milky Way bar, can induce density fluctuations that destroy this symmetry. Motivated by the recent release of unprecedentedly deep and wide imaging data around the Pal 5 stellar stream, we develop a new probabilistic, adaptive and non-parametric technique that allows us to bring the cluster's tidal tails into clear focus. Strikingly, we uncover a stream whose density exhibits visible changes on a variety of angular scales. We detect significant bumps and dips, both narrow and broad: two peaks on either side of the progenitor, each only a fraction of a degree across, and two gaps, ∼2° and ∼9° wide, the latter accompanied by a gargantuan lump of debris. This largest density feature results in a pronounced intertail asymmetry which cannot be made consistent with an unperturbed stream according to a suite of simulations we have produced. We conjecture that the sharp peaks around Pal 5 are epicyclic overdensities, while the two dips are consistent with impacts by subhaloes. Assuming an age of 3.4 Gyr for Pal 5, these two gaps would correspond to the characteristic size of gaps created by subhaloes in the mass range of 106-107 M⊙ and 107-108 M⊙, respectively. In addition to dark substructure, we find that the bar of the Milky Way can plausibly produce the asymmetric density seen in Pal 5 and that GMCs could cause the smaller gap.

  16. Comparative study of species sensitivity distributions based on non-parametric kernel density estimation for some transition metals.

    Science.gov (United States)

    Wang, Ying; Feng, Chenglian; Liu, Yuedan; Zhao, Yujie; Li, Huixian; Zhao, Tianhui; Guo, Wenjing

    2017-02-01

    Transition metals in the fourth period of the periodic table of the elements are widely widespread in aquatic environments. They could often occur at certain concentrations to cause adverse effects on aquatic life and human health. Generally, parametric models are mostly used to construct species sensitivity distributions (SSDs), which result in comparison for water quality criteria (WQC) of elements in the same period or group of the periodic table might be inaccurate and the results could be biased. To address this inadequacy, the non-parametric kernel density estimation (NPKDE) with its optimal bandwidths and testing methods were developed for establishing SSDs. The NPKDE was better fit, more robustness and better predicted than conventional normal and logistic parametric density estimations for constructing SSDs and deriving acute HC5 and WQC for transition metals in the fourth period of the periodic table. The decreasing sequence of HC5 values for the transition metals in the fourth period was Ti > Mn > V > Ni > Zn > Cu > Fe > Co > Cr(VI), which were not proportional to atomic number in the periodic table, and for different metals the relatively sensitive species were also different. The results indicated that except for physical and chemical properties there are other factors affecting toxicity mechanisms of transition metals. The proposed method enriched the methodological foundation for WQC. Meanwhile, it also provided a relatively innovative, accurate approach for the WQC derivation and risk assessment of the same group and period metals in aquatic environments to support protection of aquatic organisms.

  17. SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15.

    Directory of Open Access Journals (Sweden)

    Hee-Jin Kim

    Full Text Available Autosomal dominant non-syndromic hearing loss (AD-NSHL is one of the most common genetic diseases in human and is well-known for the considerable genetic heterogeneity. In this study, we utilized whole exome sequencing (WES and linkage analysis for direct genetic diagnosis in AD-NSHL. The Korean family had typical AD-NSHL running over 6 generations. Linkage analysis was performed by using genome-wide single nucleotide polymorphism (SNP chip and pinpointed a genomic region on 5q31 with a significant linkage signal. Sequential filtering of variants obtained from WES, application of the linkage region, bioinformatic analyses, and Sanger sequencing validation identified a novel missense mutation Arg326Lys (c.977G>A in the POU homeodomain of the POU4F3 gene as the candidate disease-causing mutation in the family. POU4F3 is a known disease gene causing AD-HSLH (DFNA15 described in 5 unrelated families until now each with a unique mutation. Arg326Lys was the first missense mutation affecting the 3(rd alpha helix of the POU homeodomain harboring a bipartite nuclear localization signal sequence. The phenotype findings in our family further supported previously noted intrafamilial and interfamilial variability of DFNA15. This study demonstrated that WES in combination with linkage analysis utilizing bi-allelic SNP markers successfully identified the disease locus and causative mutation in AD-NSHL.

  18. Dependence between fusion temperatures and chemical components of a certain type of coal using classical, non-parametric and bootstrap techniques

    Energy Technology Data Exchange (ETDEWEB)

    Gonzalez-Manteiga, W.; Prada-Sanchez, J.M.; Fiestras-Janeiro, M.G.; Garcia-Jurado, I. (Universidad de Santiago de Compostela, Santiago de Compostela (Spain). Dept. de Estadistica e Investigacion Operativa)

    1990-11-01

    A statistical study of the dependence between various critical fusion temperatures of a certain kind of coal and its chemical components is carried out. As well as using classical dependence techniques (multiple, stepwise and PLS regression, principal components, canonical correlation, etc.) together with the corresponding inference on the parameters of interest, non-parametric regression and bootstrap inference are also performed. 11 refs., 3 figs., 8 tabs.

  19. The signaling petri net-based simulator: a non-parametric strategy for characterizing the dynamics of cell-specific signaling networks.

    Directory of Open Access Journals (Sweden)

    Derek Ruths

    2008-02-01

    Full Text Available Reconstructing cellular signaling networks and understanding how they work are major endeavors in cell biology. The scale and complexity of these networks, however, render their analysis using experimental biology approaches alone very challenging. As a result, computational methods have been developed and combined with experimental biology approaches, producing powerful tools for the analysis of these networks. These computational methods mostly fall on either end of a spectrum of model parameterization. On one end is a class of structural network analysis methods; these typically use the network connectivity alone to generate hypotheses about global properties. On the other end is a class of dynamic network analysis methods; these use, in addition to the connectivity, kinetic parameters of the biochemical reactions to predict the network's dynamic behavior. These predictions provide detailed insights into the properties that determine aspects of the network's structure and behavior. However, the difficulty of obtaining numerical values of kinetic parameters is widely recognized to limit the applicability of this latter class of methods. Several researchers have observed that the connectivity of a network alone can provide significant insights into its dynamics. Motivated by this fundamental observation, we present the signaling Petri net, a non-parametric model of cellular signaling networks, and the signaling Petri net-based simulator, a Petri net execution strategy for characterizing the dynamics of signal flow through a signaling network using token distribution and sampling. The result is a very fast method, which can analyze large-scale networks, and provide insights into the trends of molecules' activity-levels in response to an external stimulus, based solely on the network's connectivity. We have implemented the signaling Petri net-based simulator in the PathwayOracle toolkit, which is publicly available at http

  20. Linkage analysis and map construction in genetic populations of clonal F1 and double cross.

    Science.gov (United States)

    Zhang, Luyan; Li, Huihui; Wang, Jiankang

    2015-01-15

    In this study, we considered four categories of molecular markers based on the number of distinguishable alleles at the marker locus and the number of distinguishable genotypes in clonal F1 progenies. For two marker loci, there are nine scenarios that allow the estimation of female, male, and/or combined recombination frequencies. In a double cross population derived from four inbred lines, five categories of markers are classified and another five scenarios are present for recombination frequency estimation. Theoretical frequencies of identifiable genotypes were given for each scenario, from which the maximum likelihood estimates of one or more of the three recombination frequencies could be estimated. If there was no analytic solution, then Newton-Raphson method was used to acquire a numerical solution. We then proposed to use an algorithm in Traveling Salesman Problem to determine the marker order. Finally, we proposed a procedure to build the two haploids of the female parent and the two haploids of the male parent in clonal F1. Once the four haploids were built, clonal F1 hybrids could be exactly regarded as a double cross population. Efficiency of the proposed methods was demonstrated in simulated clonal F1 populations and one actual maize double cross. Extensive comparisons with software JoinMap4.1, OneMap, and R/qtl show that the methodology proposed in this article can build more accurate linkage maps in less time.

  1. Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection.

    Science.gov (United States)

    Zavattari, P; Deidda, E; Whalen, M; Lampis, R; Mulargia, A; Loddo, M; Eaves, I; Mastio, G; Todd, J A; Cucca, F

    2000-12-12

    Linkage disequilibrium (LD) mapping of disease genes is complicated by population- and chromosome-region-specific factors. We have analysed demographic factors by contrasting intermarker LD results obtained in a large cosmopolitan population (UK), a large genetic isolate (Sardinia) and a subisolate (village of Gavoi) for two regions of the X chromosome. A dramatic increase of LD was found in the subisolate. Demographic history of populations therefore influences LD. Chromosome-region-specific effects, namely the pattern and frequency of homologous recombination, were next delineated by the analysis of chromosome 6p21, including the HLA region. Patterns of global LD in this region were very similar in the UK and Sardinian populations despite their entirely distinct demographies, and correlate well with the pattern of recombinations. Nevertheless, haplotypes extend across recombination hot spots indicative of selection of certain haplotypes. Subisolate aside, chromosome-region-specific differences in LD patterns appear to be more important than the differences in intermarker LD between distinct populations.

  2. A Novel Method to Magnetic Flux Linkage Optimization of Direct-Driven Surface-Mounted Permanent Magnet Synchronous Generator Based on Nonlinear Dynamic Analysis

    Directory of Open Access Journals (Sweden)

    Qian Xie

    2016-07-01

    Full Text Available This paper pays attention to magnetic flux linkage optimization of a direct-driven surface-mounted permanent magnet synchronous generator (D-SPMSG. A new compact representation of the D-SPMSG nonlinear dynamic differential equations to reduce system parameters is established. Furthermore, the nonlinear dynamic characteristics of new D-SPMSG equations in the process of varying magnetic flux linkage are considered, which are illustrated by Lyapunov exponent spectrums, phase orbits, Poincaré maps, time waveforms and bifurcation diagrams, and the magnetic flux linkage stable region of D-SPMSG is acquired concurrently. Based on the above modeling and analyses, a novel method of magnetic flux linkage optimization is presented. In addition, a 2 MW D-SPMSG 2D/3D model is designed by ANSYS software according to the practical design requirements. Finally, five cases of D-SPMSG models with different magnetic flux linkages are simulated by using the finite element analysis (FEA method. The nephograms of magnetic flux density are agreement with theoretical analysis, which both confirm the correctness and effectiveness of the proposed approach.

  3. 统计软件R在非参数统计教学中的应用%Application of Statistical Software R in the Teaching of Non-Parametric Statistics

    Institute of Scientific and Technical Information of China (English)

    王志刚; 冯利英; 刘勇

    2012-01-01

    Introduces the applieation of statistical software R in the teaching of non-parametric statistic's, which is an important branch of statistics. In particular, describes the using of software R in ex- ploratory data analysis, inferential statistics and stochastic, simulation in details. The flexihle, open-sourc, e characteristics of software R makes the data processing more efficient. This soft- ware can realize all the methods of the teaching process, and is convenient fi~r learners to opti- mize and improve based on the previous work. R software is suitable for teaching of the non- parametric statistics.%主要介绍统计软件R在统计中一个重要分支非参数统计中的应用.分别从探索性数据分析、推断统计、随机模拟三个角度介绍R软件的应用。从介绍可以看出R软件的灵活、开源的特性,使得数据处理变得更加高效、得心应手。能够通过软件实现教学环节中的所有方法,并且方便学习者在前人工作基础上对方法进行优化、改进,在非参数统计教学中选用R软件是适合的。

  4. Genome-wide linkage scan to identify loci associated with type 2 diabetes and blood lipid phenotypes in the Sikh Diabetes Study.

    Directory of Open Access Journals (Sweden)

    Dharambir K Sanghera

    Full Text Available In this investigation, we have carried out an autosomal genome-wide linkage analysis to map genes associated with type 2 diabetes (T2D and five quantitative traits of blood lipids including total cholesterol, high-density lipoprotein (HDL cholesterol, low-density lipoprotein (LDL cholesterol, very low-density lipoprotein (VLDL cholesterol, and triglycerides in a unique family-based cohort from the Sikh Diabetes Study (SDS. A total of 870 individuals (526 male/344 female from 321 families were successfully genotyped using 398 polymorphic microsatellite markers with an average spacing of 9.26 cM on the autosomes. Results of non-parametric multipoint linkage analysis using S(all statistics (implemented in Merlin did not reveal any chromosomal region to be significantly associated with T2D in this Sikh cohort. However, linkage analysis for lipid traits using QTL-ALL analysis revealed promising linkage signals with p≤0.005 for total cholesterol, LDL cholesterol, and HDL cholesterol at chromosomes 5p15, 9q21, 10p11, 10q21, and 22q13. The most significant signal (p = 0.0011 occurred at 10q21.2 for HDL cholesterol. We also observed linkage signals for total cholesterol at 22q13.32 (p = 0.0016 and 5p15.33 (p = 0.0031 and for LDL cholesterol at 10p11.23 (p = 0.0045. Interestingly, some of linkage regions identified in this Sikh population coincide with plausible candidate genes reported in recent genome-wide association and meta-analysis studies for lipid traits. Our study provides the first evidence of linkage for loci associated with quantitative lipid traits at four chromosomal regions in this Asian Indian population from Punjab. More detailed examination of these regions with more informative genotyping, sequencing, and functional studies should lead to rapid detection of novel targets of therapeutic importance.

  5. Analysis of biomarkers for the cross-linkage of formaldehyde with bovine serum albumin peptides

    Institute of Scientific and Technical Information of China (English)

    AHMAD Waqar; DENG YuLin; LI Bo; LI LiLi; AHAMD Manzoor; IQBAL Zafar; PARVEEN Zahida

    2008-01-01

    Formaldehyde, a well-known environmental toxic hazard, has been found to produce endogenously via semicarbazide-sensitive amine oxidase-catalyzed oxidative deamination of methylamine. In diabetes,the activity of SSAO has been found to increase with a subsequent increase in endogenous formalde-hyde production. It has been postulated that SSAO-induced production of formaldehyde may be in-volved in the alteration of protein structure, which may subsequently cause protein deposition associ-ated with chronic pathological disorders. Formaldehyde has also been found to react (cross-link) withamino group of the N-terminal amino acid residue and with the side-chains of arginine, cysteine, his-tidine and lysine residues. Therefore, formaldehyde may be responsible, at least in part, for protein cross-linkage, oxidative stress and cytotoxicity. The cross-linking of formaldehyde with bovine serum albumin was studied using LC-MS and Mascot database. The peptides sequence for control BSA (un-treated) digested with trypsin was matched in the online database search query by exporting the MS/MS data to online MASCOT database. In this way, a total of twenty-seven peptides were matched in the database search query. These twenty-seven peptides were then searched manually in all of the tryptic BSA samples treated with different concentrations of FA that were incubated in different time intervals.Six formaldehyde-treated BSA peptides (FKDLGEEHFK, HLVDEPQNLIK, KVPQVSTPTLVEVSR,RPCFSALTPDETYVPK, LVNELTEFAK, DAFLGSFLYEYSR) were found to be the possible markers for formaldehyde-protein/peptides adducts.

  6. Non-parametric data-based approach for the quantification and communication of uncertainties in river flood forecasts

    Science.gov (United States)

    Van Steenbergen, N.; Willems, P.

    2012-04-01

    Reliable flood forecasts are the most important non-structural measures to reduce the impact of floods. However flood forecasting systems are subject to uncertainty originating from the input data, model structure and model parameters of the different hydraulic and hydrological submodels. To quantify this uncertainty a non-parametric data-based approach has been developed. This approach analyses the historical forecast residuals (differences between the predictions and the observations at river gauging stations) without using a predefined statistical error distribution. Because the residuals are correlated with the value of the forecasted water level and the lead time, the residuals are split up into discrete classes of simulated water levels and lead times. For each class, percentile values are calculated of the model residuals and stored in a 'three dimensional error' matrix. By 3D interpolation in this error matrix, the uncertainty in new forecasted water levels can be quantified. In addition to the quantification of the uncertainty, the communication of this uncertainty is equally important. The communication has to be done in a consistent way, reducing the chance of misinterpretation. Also, the communication needs to be adapted to the audience; the majority of the larger public is not interested in in-depth information on the uncertainty on the predicted water levels, but only is interested in information on the likelihood of exceedance of certain alarm levels. Water managers need more information, e.g. time dependent uncertainty information, because they rely on this information to undertake the appropriate flood mitigation action. There are various ways in presenting uncertainty information (numerical, linguistic, graphical, time (in)dependent, etc.) each with their advantages and disadvantages for a specific audience. A useful method to communicate uncertainty of flood forecasts is by probabilistic flood mapping. These maps give a representation of the

  7. A genome-wide search for linkage of estimated glomerular filtration rate (eGFR in the Family Investigation of Nephropathy and Diabetes (FIND.

    Directory of Open Access Journals (Sweden)

    Farook Thameem

    Full Text Available OBJECTIVE: Estimated glomerular filtration rate (eGFR, a measure of kidney function, is heritable, suggesting that genes influence renal function. Genes that influence eGFR have been identified through genome-wide association studies. However, family-based linkage approaches may identify loci that explain a larger proportion of the heritability. This study used genome-wide linkage and association scans to identify quantitative trait loci (QTL that influence eGFR. METHODS: Genome-wide linkage and sparse association scans of eGFR were performed in families ascertained by probands with advanced diabetic nephropathy (DN from the multi-ethnic Family Investigation of Nephropathy and Diabetes (FIND study. This study included 954 African Americans (AA, 781 American Indians (AI, 614 European Americans (EA and 1,611 Mexican Americans (MA. A total of 3,960 FIND participants were genotyped for 6,000 single nucleotide polymorphisms (SNPs using the Illumina Linkage IVb panel. GFR was estimated by the Modification of Diet in Renal Disease (MDRD formula. RESULTS: The non-parametric linkage analysis, accounting for the effects of diabetes duration and BMI, identified the strongest evidence for linkage of eGFR on chromosome 20q11 (log of the odds [LOD] = 3.34; P = 4.4 × 10(-5 in MA and chromosome 15q12 (LOD = 2.84; P = 1.5 × 10(-4 in EA. In all subjects, the strongest linkage signal for eGFR was detected on chromosome 10p12 (P = 5.5 × 10(-4 at 44 cM near marker rs1339048. A subsequent association scan in both ancestry-specific groups and the entire population identified several SNPs significantly associated with eGFR across the genome. CONCLUSION: The present study describes the localization of QTL influencing eGFR on 20q11 in MA, 15q21 in EA and 10p12 in the combined ethnic groups participating in the FIND study. Identification of causal genes/variants influencing eGFR, within these linkage and association loci, will open new avenues for functional analyses

  8. Linkage disequilibrium and population-structure analysis among Capsicum annuum L. cultivars for use in association mapping.

    Science.gov (United States)

    Nimmakayala, Padma; Abburi, Venkata L; Abburi, Lavanya; Alaparthi, Suresh Babu; Cantrell, Robert; Park, Minkyu; Choi, Doil; Hankins, Gerald; Malkaram, Sridhar; Reddy, Umesh K

    2014-08-01

    Knowledge of population structure and linkage disequilibrium among the worldwide collections of peppers currently classified as hot, mild, sweet and ornamental types is indispensable for applying association mapping and genomic selection to improve pepper. The current study aimed to resolve the genetic diversity and relatedness of Capsicum annuum germplasm by use of simple sequence repeat (SSR) loci across all chromosomes in samples collected in 2011 and 2012. The physical distance covered by the entire set of SSRs used was 2,265.9 Mb from the 3.48-Gb hot-pepper genome size. The model-based program STRUCTURE was used to infer five clusters, which was further confirmed by classical molecular-genetic diversity analysis. Mean heterozygosity of various loci was estimated to be 0.15. Linkage disequilibrium (LD) was used to identify 17 LD blocks across various chromosomes with sizes from 0.154 Kb to 126.28 Mb. CAMS-142 of chromosome 1 was significantly associated with both capsaicin (CA) and dihydrocapsaicin (DCA) levels. Further, CAMS-142 was located in an LD block of 98.18 Mb. CAMS-142 amplified bands of 244, 268, 283 and 326 bp. Alleles 268 and 283 bp had positive effects on both CA and DCA levels, with an average R(2) of 12.15 % (CA) and 12.3 % (DCA). Eight markers from seven different chromosomes were significantly associated with fruit weight, contributing an average effect of 15 %. CAMS-199, HpmsE082 and CAMS-190 are the three major quantitative trait loci located on chromosomes 8, 9, and 10, respectively, and were associated with fruit weight in samples from both years of the study. This research demonstrates the effectiveness of using genome-wide SSR-based markers to assess features of LD and genetic diversity within C. annuum.

  9. Linkage Maps of a Mediterranean × Continental Tall Fescue Population and their Comparative Analysis with Other Poaceae Species

    Directory of Open Access Journals (Sweden)

    Ryan Dierking

    2015-03-01

    Full Text Available Temperate grasses belonging to the complex are important throughout the world in pasture and grassland agriculture. Tall fescue ( Schreb. is the predominant species in the United States, covering approximately 15 million ha. Tall fescue has distinctive morphotypes, two of which are Continental (summer active and Mediterranean (summer semidormant. This is the first report of a linkage map created for Mediterranean tall fescue, while updating the Continental map with additional simple sequence repeat and sequence-tagged site markers. Additionally, this is the first time that diversity arrays technology (DArT markers were used in the construction of a tall fescue map. The male parent (Continental, R43-64, map consisted of 594 markers arranged in 22 linkage groups (LGs and covered a total of 1577 cM. The female parent (Mediterranean, 103-2, map was shorter (1258 cM and consisted of only 208 markers arranged in 29 LGs. Marker densities for R43-64 and 103-2 were 2.65 and 6.08 cM per marker, respectively. When compared with the other Poaceae species, meadow fescue ( Huds., annual ryegrass ( Lam., perennial ryegrass ( L., (L. Beauv., and barley ( L., a total of 171 and 98 orthologous or homologous sequences, identified by DArT analysis, were identified in R43-64 and 103-2, respectively. By using genomic in situ hybridization, we aimed to identify potential progenitors of both morphotypes. However, no clear conclusion on genomic constitution was reached. These maps will aid in the search for quantitative trait loci of various traits as well as help define and distinguish genetic differences between the two morphotypes.

  10. Metallomic profiling and linkage map analysis of early Parkinson's disease: a new insight to aluminum marker for the possible diagnosis.

    Directory of Open Access Journals (Sweden)

    Shiek S S J Ahmed

    Full Text Available BACKGROUND: Parkinson's disease (PD is the most common neurodegenerative disorder. The diagnosis of PD is challenging and currently none of the biochemical tests have proven to help in diagnosis. Serum metallomic analysis may suggest the possibility of diagnosis of PD. METHODOLOGY/RESULTS: The metallomic analysis was targeted on 31 elements obtained from 42 healthy controls and 45 drug naive PD patients using ICP-AES and ICP-MS to determine the concentration variations of elements between PD and normal. The targeted metallomic analysis showed the significant variations in 19 elements of patients compared to healthy control (p<0.04. The partial least squares discriminant analysis (PLS-DA showed aluminium, copper, iron, manganese and zinc are the key elements, contributes the separation of PD patients from control samples. The correlation coefficient analysis and element-element ratio confirm the imbalance of inter-elements relationship in PD patients' serum. Furthermore, elements linkage map analysis showed aluminium is a key element involved in triggering of phosphorus, which subsequently lead to imbalance of homeostatic in PD serum. The execution of neural network using elements concentrations provides 95% accuracy in detection of disease. CONCLUSIONS/SIGNIFICANCE: These results suggest that there is a disturbance in the elements homeostasis and inter-elements relationship in PD patients' serum. The analysis of serum elements helps in linking the underlying cellular processes such as oxidative stress, neuronal dysfunction and apoptosis, which are the dominating factors in PD. Also, these results increase the prospect of detection of early PD from serum through neural network algorithm.

  11. Stability analysis of glutamic acid linked peptides coupled to NOTA through different chemical linkages.

    Science.gov (United States)

    Lang, Lixin; Ma, Ying; Kiesewetter, Dale O; Chen, Xiaoyuan

    2014-11-03

    Glutamic acid is a commonly used linker to form dimeric peptides with enhanced binding affinity than their corresponding monomeric counterparts. We have previously labeled NOTA-Bn-NCS-PEG3-E[c(RGDyK)]2 (NOTA-PRGD2) [1] with [(18)F]AlF and (68)Ga for imaging tumor angiogenesis. The p-SCN-Bn-NOTA was attached to E[c(RGDyK)]2 [2] through a mini-PEG with a thiourea linkage, and the product [1] was stable at radiolabeling condition of 100 °C and pH 4.0 acetate buffer. However, when the same p-SCN-Bn-NOTA was directly attached to the α-amine of E[c(RGDfK)]2 [3], the product NOTA-Bn-NCS-E[c(RGDfK)]2 [4] became unstable under similar conditions and the release of monomeric c(RGDfK) [5] was observed. The purpose of this work was to use HPLC and LC-MS to monitor the decomposition of glutamic acid linked dimeric peptides and their NOTA derivatives. A c(RGDyK) [6] and bombesin (BBN) [7] heterodimer c(RGDyK)-E-BBN [8], and a dimeric bombesin E(BBN)2 [9], both with a glutamic acid as the linker, along with a model compound PhSCN-E[c(RGDfK)] [10] were also studied. All the compounds were dissolved in 0.5 M pH 4.0 acetate buffer at the concentration of 1 mg/mL, and 0.1 mL of each sample was heated at 100 °C for 10 min and the more stable compounds were heated for another 30 min. The samples at both time points were analyzed with analytical HPLC to monitor the decomposition of the heated samples. The samples with decomposition were further analyzed by LC-MS to determine the mass of products from the decomposition for possible structure elucidation. After 10 min heating, the obvious release of c(RGDfK) [5] was observed for NOTA-Bn-NCS-E[c(RGDfK)]2 [4] and Ph-SCN-E[c(RGDfK)] [10]. Little or no release of monomers was observed for the remaining samples at this time point. After further heating, the release of monomers was clearly observed for E[c(RGDyK)]2 [2], E[c(RGDfK)]2 [3], c(RGDyK)-E-BBN [8], and E(BBN)2 [9]. No decomposition or little decomposition was observed for NOTA

  12. Towards finding the linkage between metabolic and age-related disorders using semantic gene data network analysis

    Science.gov (United States)

    Uzzal Hossain, Mohammad; Zaffar Shibly, Abu; Md. Omar, Taimur; Tous Zohora, Fatama; Sara Santona, Umme; Hossain, Md. Jakir; Hosen Khoka, Md. Sadek; Ara Keya, Chaman; Salimullah, Md.

    2016-01-01

    A metabolic disorder (MD) occurs when the metabolic process is disturbed. This process is carried out by thousands of enzymes participating in numerous inter-dependent metabolic pathways. Critical biochemical reactions that involve the processing and transportation of carbohydrates, proteins and lipids are affected in metabolic diseases. Therefore, it is of interest to identify the common pathways of metabolic disorders by building protein-protein interactions (PPI) for network analysis. The molecular network linkages between MD and age related diseases (ARD) are intriguing. Hence, we created networks of protein-protein interactions that are related with MD and ARD using relevant known data in the public domain. The network analysis identified known MD associated proteins and predicted genes and or its products of ARD in common pathways. The genes in the common pathways were isolated from the network and further analyzed for their co-localization and shared domains. Thus, a model hypothesis is proposed using interaction networks that are linked between MD and ARD. This data even if less conclusive finds application in understanding the molecular mechanism of known diseases in relation to observed molecular events PMID:27212841

  13. Non-parametric Data Analysis of Low-latitude Auroras and Naked-eye Sunspots in the Medieval Epoch

    Science.gov (United States)

    Bekli, Mohamed Reda; Zougab, Nabil; Belabbas, Abdelmoumene; Chadou, Ilhem

    2017-04-01

    We have studied solar activity by analyzing naked-eye sunspot observations and aurorae borealis observed at latitudes below 45°. We focused on the medieval epoch by considering the non-telescopic observations of sunspots from AD 974 to 1278 and aurorae borealis from AD 965 to 1273 that are reported in several Far East historical sources, primarily in China and Korea. After setting selection rules, we analyzed the distribution of these individual events following the months of the Gregorian calendar. In December, an unusual peak is observed with data recorded in both China and Japan, but not within Korean data.

  14. When the Single Matters more than the Group (II): Addressing the Problem of High False Positive Rates in Single Case Voxel Based Morphometry Using Non-parametric Statistics.

    Science.gov (United States)

    Scarpazza, Cristina; Nichols, Thomas E; Seramondi, Donato; Maumet, Camille; Sartori, Giuseppe; Mechelli, Andrea

    2016-01-01

    In recent years, an increasing number of studies have used Voxel Based Morphometry (VBM) to compare a single patient with a psychiatric or neurological condition of interest against a group of healthy controls. However, the validity of this approach critically relies on the assumption that the single patient is drawn from a hypothetical population with a normal distribution and variance equal to that of the control group. In a previous investigation, we demonstrated that family-wise false positive error rate (i.e., the proportion of statistical comparisons yielding at least one false positive) in single case VBM are much higher than expected (Scarpazza et al., 2013). Here, we examine whether the use of non-parametric statistics, which does not rely on the assumptions of normal distribution and equal variance, would enable the investigation of single subjects with good control of false positive risk. We empirically estimated false positive rates (FPRs) in single case non-parametric VBM, by performing 400 statistical comparisons between a single disease-free individual and a group of 100 disease-free controls. The impact of smoothing (4, 8, and 12 mm) and type of pre-processing (Modulated, Unmodulated) was also examined, as these factors have been found to influence FPRs in previous investigations using parametric statistics. The 400 statistical comparisons were repeated using two independent, freely available data sets in order to maximize the generalizability of the results. We found that the family-wise error rate was 5% for increases and 3.6% for decreases in one data set; and 5.6% for increases and 6.3% for decreases in the other data set (5% nominal). Further, these results were not dependent on the level of smoothing and modulation. Therefore, the present study provides empirical evidence that single case VBM studies with non-parametric statistics are not susceptible to high false positive rates. The critical implication of this finding is that VBM can be used

  15. Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

    Directory of Open Access Journals (Sweden)

    Mine S Cicek

    Full Text Available A substantial proportion of familial colorectal cancer (CRC is not a consequence of known susceptibility loci, such as mismatch repair (MMR genes, supporting the existence of additional loci. To identify novel CRC loci, we conducted a genome-wide linkage scan in 356 white families with no evidence of defective MMR (i.e., no loss of tumor expression of MMR proteins, no microsatellite instability (MSI-high tumors, or no evidence of linkage to MMR genes. Families were ascertained via the Colon Cancer Family Registry multi-site NCI-supported consortium (Colon CFR, the City of Hope Comprehensive Cancer Center, and Memorial University of Newfoundland. A total of 1,612 individuals (average 5.0 per family including 2.2 affected were genotyped using genome-wide single nucleotide polymorphism linkage arrays; parametric and non-parametric linkage analysis used MERLIN in a priori-defined family groups. Five lod scores greater than 3.0 were observed assuming heterogeneity. The greatest were among families with mean age of diagnosis less than 50 years at 4q21.1 (dominant HLOD = 4.51, α = 0.84, 145.40 cM, rs10518142 and among all families at 12q24.32 (dominant HLOD = 3.60, α = 0.48, 285.15 cM, rs952093. Among families with four or more affected individuals and among clinic-based families, a common peak was observed at 15q22.31 (101.40 cM, rs1477798; dominant HLOD = 3.07, α = 0.29; dominant HLOD = 3.03, α = 0.32, respectively. Analysis of families with only two affected individuals yielded a peak at 8q13.2 (recessive HLOD = 3.02, α = 0.51, 132.52 cM, rs1319036. These previously unreported linkage peaks demonstrate the continued utility of family-based data in complex traits and suggest that new CRC risk alleles remain to be elucidated.

  16. Directed Graphs, Decompositions, and Spatial Linkages

    CERN Document Server

    Shai, Offer; Whiteley, Walter

    2010-01-01

    The decomposition of a system of constraints into small basic components is an important tool of design and analysis. Specifically, the decomposition of a linkage into minimal components is a central tool of analysis and synthesis of linkages. In this paper we prove that every pinned 3-isostatic (minimally rigid) graph (grounded linkage) has a unique decomposition into minimal strongly connected components (in the sense of directed graphs) which we call 3-Assur graphs. This analysis extends the Assur decompositions of plane linkages previously studied in the mathematical and the mechanical engineering literature. These 3-Assur graphs are the central building blocks for all kinematic linkages in 3-space. They share a number of key combinatorial and geometric properties with the 2-Assur graphs, including an associated lower block-triangular decomposition of the pinned rigidity matrix which provides a format for extending the motion induced by inserting one driver in a bottom Assur linkage to the joints of the e...

  17. CONSIDERATIONS OVER THE METHODOLOGY OF FINANCIAL ANALYSIS AND ITS LINKAGE WITH BANKABILITY OF EUROPEAN FUNDED INVESTMENT PROJECTS

    OpenAIRE

    Ioan TRENCA; Petria, Nicolae; Laurentiu DROJ

    2012-01-01

    European funding is considered to be one of the hot topics in Romania and all over Eastern Europe since its novelty and its expected capacity to improve the life of the newly integrated European citizens. The linkages between the European Financial Support Programmes, the private financing performed by the banking sector and the private companies which are intending to use the structural funds to finance their investments is obvious. The present paper analyzed these linkages, creates a case s...

  18. An analysis of the organizational linkages in the cotton industry in Benin

    NARCIS (Netherlands)

    Sinzogan, A.A.C.; Jiggins, J.; Vodouhè, S.; Kossou, D.; Totin, G.G.E.; Huis, van A.

    2007-01-01

    A study of the institutional context of the cotton industry in Benin was conducted in 2004, based on an analysis of stakeholders' interests and influence. The impacts on innovation processes and production systems are analysed with respect to farmers' organizations, the research and extension system

  19. Linkages between biodiversity loss and human health: a global indicator analysis

    NARCIS (Netherlands)

    Huynen, M.M.T.E.; Martens, P.; Groot, de R.S.

    2004-01-01

    The association between health and biodiversity loss was explored by means of regression analysis on a global scale, with control for confounding by socio-economic developments. For this we selected indicators of human health (life expectancy, disability adjusted life expectancy, infant mortality

  20. Automatic spike sorting for extracellular electrophysiological recording using unsupervised single linkage clustering based on grey relational analysis

    Science.gov (United States)

    Lai, Hsin-Yi; Chen, You-Yin; Lin, Sheng-Huang; Lo, Yu-Chun; Tsang, Siny; Chen, Shin-Yuan; Zhao, Wan-Ting; Chao, Wen-Hung; Chang, Yao-Chuan; Wu, Robby; Shih, Yen-Yu I.; Tsai, Sheng-Tsung; Jaw, Fu-Shan

    2011-06-01

    Automatic spike sorting is a prerequisite for neuroscience research on multichannel extracellular recordings of neuronal activity. A novel spike sorting framework, combining efficient feature extraction and an unsupervised clustering method, is described here. Wavelet transform (WT) is adopted to extract features from each detected spike, and the Kolmogorov-Smirnov test (KS test) is utilized to select discriminative wavelet coefficients from the extracted features. Next, an unsupervised single linkage clustering method based on grey relational analysis (GSLC) is applied for spike clustering. The GSLC uses the grey relational grade as the similarity measure, instead of the Euclidean distance for distance calculation; the number of clusters is automatically determined by the elbow criterion in the threshold-cumulative distribution. Four simulated data sets with four noise levels and electrophysiological data recorded from the subthalamic nucleus of eight patients with Parkinson's disease during deep brain stimulation surgery are used to evaluate the performance of GSLC. Feature extraction results from the use of WT with the KS test indicate a reduced number of feature coefficients, as well as good noise rejection, despite similar spike waveforms. Accordingly, the use of GSLC for spike sorting achieves high classification accuracy in all simulated data sets. Moreover, J-measure results in the electrophysiological data indicating that the quality of spike sorting is adequate with the use of GSLC.

  1. Linkage disequilibrium analysis in young populations: Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

    Energy Technology Data Exchange (ETDEWEB)

    Labuda, M.; Glorieux, F.H. [McGill Univ., Montreal (Canada); Labuda, D.; Korab-Laskowska, M. [Universite de Montreal (Canada)] [and others

    1996-09-01

    Pseudo-vitamin D-deficiency rickets (PDDR) was mapped close to D12S90 and between proximal D12S312 and distal (D12S305, D12S104) microsatellites that were subsequently found on a single YAC clone. Analysis of a complex haplotype in linkage disequilibrium (LD) with the disease discriminated among distinct founder effects in French Canadian populations in Acadia and in Charlevoix-Saguenay-Lac-Saint-Jean (Ch-SLSJ), as well as an earlier one in precolonial Europe. A simple demographic model suggested the historical age of the founder effect in Ch-SLSJ to be {approximately}12 generations. The corresponding LD data are consistent with this figure when they are analyzed within the framework of Luria-Delbruck model, which takes into account the population growth. Population sampling due to a limited number of first settlers and the rapid demographic expansion appear to have played a major role in the founding of PDDR in Ch-SLSJ and, presumably, other genetic disorders endemic to French Canada. Similarly, the founder effect in Ashkenazim, coinciding with their early settlement in medieval Poland and subsequent expansion eastward, could explain the origin of frequent genetic diseases in this population. 48 refs., 5 figs., 2 tabs.

  2. Eco-Health linkages: assessing the role of ecosystem goods and services on human health using causal criteria analysis.

    Science.gov (United States)

    de Jesus Crespo, Rebeca; Fulford, Richard

    2017-08-01

    In the last decade, we saw an upsurge of studies evaluating the role of ecosystem goods and services (EGS) on human health (Eco-Health). Most of this work consists of observational research of intermediate processes and few address the full pathways from ecosystem to EGS to human health, limiting our ability to assess causality. We conducted a causal criteria analysis of Eco-Health literature using Eco-Evidence, a software tool that helps evaluate evidence of cause-effect relationships. We focus on the context of green spaces providing "buffering" EGS that may influence disease. We found support for a causal linkage between green spaces and all of the EGS tested, and sufficient evidence linking EGS to gastro intestinal disease and heat morbidities. Inconsistencies were found when assessing the link between EGS to cardiovascular and respiratory diseases. Few studies directly link green spaces to health. Those that do, support a connection to cardiovascular disease, and heat morbidities, but provide inconsistent evidence regarding respiratory illness. Our results help establish an agenda to shape future Eco-Health research and define priorities for managing green spaces to provide human health benefits.

  3. Investigating fault propagation and segment linkage using throw distribution analysis within the Agbada formation of Ewan and Oloye fields, northwestern Niger delta

    Science.gov (United States)

    Durogbitan, Abimbola Adewole

    2016-08-01

    Throw distribution analysis of the key stratigraphic surfaces (sequence boundaries and maximum flooding surfaces) across faults has allowed detailed investigation of the tectonic history within the Ewan and Oloye fields, northwestern Niger delta. The structure in the studied area is dominated by growth fault systems which are listric in cross section and concave to the basin in plan-view. Generally, the faults are active down to 2000 m depth before they die out or sole into the underlying shale. The hanging-wall blocks of growth faults are deformed into broad rollover anticlines, with some synthetic and antithetic faults initiated from the anticline crests, and fault splays off major faults, further complicating these structures. Stratigraphic key surfaces within the syn-faulting succession range in age from 16.7 to 10.35 Ma. Periods of maximum and minimum throw are established from 2-Dimensional throw distribution on the growth fault plane. Throw distribution allows analysis of growth fault nucleation, propagation and linkage. Each fault nucleated at different and a distinct interval within the stratigraphic section, as a result of the paleo-stress distribution between the interacting faults. Nucleation and linkage positions can be identified at points of maximum and minimum throw respectively. Following nucleation, faults propagated radially and linked to form the present geometry. Within the study area, fault propagation and segment linkage (lateral and vertical) are important features of the fault system. Understanding of growth fault evolution and linkage has greatly improved prediction of seal potential, trap geometry and migration. The accurate timing of the segment linkage has helped to evaluate the seal risk.

  4. Enhanced understanding of ectoparasite–host trophic linkages on coral reefs through stable isotope analysis

    Directory of Open Access Journals (Sweden)

    Amanda W.J. Demopoulos

    2015-04-01

    Full Text Available Parasitism, although the most common type of ecological interaction, is usually ignored in food web models and studies of trophic connectivity. Stable isotope analysis is widely used in assessing the flow of energy in ecological communities and thus is a potentially valuable tool in understanding the cryptic trophic relationships mediated by parasites. In an effort to assess the utility of stable isotope analysis in understanding the role of parasites in complex coral-reef trophic systems, we performed stable isotope analysis on three common Caribbean reef fish hosts and two kinds of ectoparasitic isopods: temporarily parasitic gnathiids (Gnathia marleyi and permanently parasitic cymothoids (Anilocra. To further track the transfer of fish-derived carbon (energy from parasites to parasite consumers, gnathiids from host fish were also fed to captive Pederson shrimp (Ancylomenes pedersoni for at least 1 month. Parasitic isopods had δ13C and δ15N values similar to their host, comparable with results from the small number of other host–parasite studies that have employed stable isotopes. Adult gnathiids were enriched in 15N and depleted in 13C relative to juvenile gnathiids, providing insights into the potential isotopic fractionation associated with blood-meal assimilation and subsequent metamorphosis. Gnathiid-fed Pedersen shrimp also had δ13C values consistent with their food source and enriched in 15N as predicted due to trophic fractionation. These results further indicate that stable isotopes can be an effective tool in deciphering cryptic feeding relationships involving parasites and their consumers, and the role of parasites and cleaners in carbon transfer in coral-reef ecosystems specifically.

  5. Enhanced understanding of ectoparasite: host trophic linkages on coral reefs through stable isotope analysis

    Science.gov (United States)

    Demopoulos, Amanda W. J.; Sikkel, Paul C.

    2015-01-01

    Parasitism, although the most common type of ecological interaction, is usually ignored in food web models and studies of trophic connectivity. Stable isotope analysis is widely used in assessing the flow of energy in ecological communities and thus is a potentially valuable tool in understanding the cryptic trophic relationships mediated by parasites. In an effort to assess the utility of stable isotope analysis in understanding the role of parasites in complex coral-reef trophic systems, we performed stable isotope analysis on three common Caribbean reef fish hosts and two kinds of ectoparasitic isopods: temporarily parasitic gnathiids (Gnathia marleyi) and permanently parasitic cymothoids (Anilocra). To further track the transfer of fish-derived carbon (energy) from parasites to parasite consumers, gnathiids from host fish were also fed to captive Pederson shrimp (Ancylomenes pedersoni) for at least 1 month. Parasitic isopods had δ13C and δ15N values similar to their host, comparable with results from the small number of other host–parasite studies that have employed stable isotopes. Adult gnathiids were enriched in 15N and depleted in13C relative to juvenile gnathiids, providing insights into the potential isotopic fractionation associated with blood-meal assimilation and subsequent metamorphosis. Gnathiid-fed Pedersen shrimp also had δ13C values consistent with their food source and enriched in 15N as predicted due to trophic fractionation. These results further indicate that stable isotopes can be an effective tool in deciphering cryptic feeding relationships involving parasites and their consumers, and the role of parasites and cleaners in carbon transfer in coral-reef ecosystems specifically.

  6. Proteasome modulator 9 gene SNPs, responsible for anti-depressant response, are in linkage with generalized anxiety disorder.

    Science.gov (United States)

    Gragnoli, Claudia

    2014-09-01

    Proteasome modulator 9 (PSMD9) gene single nucleotide polymorphism (SNP) rs1043307/rs2514259 (E197G) is associated with significant clinical response to the anti-depressant desipramine. PSMD9 SNP rs74421874 [intervening sequence (IVS) 3 + nt460 G>A], rs3825172 (IVS3 + nt437 C>T) and rs1043307/rs2514259 (E197G A>G) are all linked to type 2 diabetes (T2D), maturity-onset-diabetes-of the young 3 (MODY3), obesity and waist circumference, hypertension, hypercholesterolemia, T2D-macrovascular and T2D-microvascular disease, T2D-neuropathy, T2D-carpal tunnel syndrome, T2D-nephropathy, T2D-retinopathy, non-diabetic retinopathy and depression. PSMD9 rs149556654 rare SNP (N166S A>G) and the variant S143G A>G also contribute to T2D. PSMD9 is located in the chromosome 12q24 locus, which per se is in linkage with depression, bipolar disorder and anxiety. In the present study, we wanted to determine whether PSMD9 is linked to general anxiety disorder in Italian T2D families. Two-hundred Italian T2D families were phenotyped for generalized anxiety disorder, using the diagnostic criteria of DSM-IV. When the diagnosis was unavailable or unclear, the trait was reported as unknown. The 200 Italians families were tested for the PSMD9 T2D risk SNPs rs74421874 (IVS3 + nt460 G>A), rs3825172 (IVS3 +nt437 T>C) and for the T2D risk and anti-depressant response SNP rs1043307/rs2514259 (E197G A>G) for evidence of linkage with generalized anxiety disorder. Non-parametric linkage analysis was executed via Merlin software. One-thousand simulation tests were performed to exclude results due to random chance. In our study, the PSMD9 gene SNPs rs74421874, rs3825172, and rs1043307/rs2514259 result in linkage to generalized anxiety disorder. This is the first report describing PSMD9 gene SNPs in linkage to generalized anxiety disorder in T2D families.

  7. The relationship between multilevel models and non-parametric multilevel mixture models: Discrete approximation of intraclass correlation, random coefficient distributions, and residual heteroscedasticity.

    Science.gov (United States)

    Rights, Jason D; Sterba, Sonya K

    2016-11-01

    Multilevel data structures are common in the social sciences. Often, such nested data are analysed with multilevel models (MLMs) in which heterogeneity between clusters is modelled by continuously distributed random intercepts and/or slopes. Alternatively, the non-parametric multilevel regression mixture model (NPMM) can accommodate the same nested data structures through discrete latent class variation. The purpose of this article is to delineate analytic relationships between NPMM and MLM parameters that are useful for understanding the indirect interpretation of the NPMM as a non-parametric approximation of the MLM, with relaxed distributional assumptions. We define how seven standard and non-standard MLM specifications can be indirectly approximated by particular NPMM specifications. We provide formulas showing how the NPMM can serve as an approximation of the MLM in terms of intraclass correlation, random coefficient means and (co)variances, heteroscedasticity of residuals at level 1, and heteroscedasticity of residuals at level 2. Further, we discuss how these relationships can be useful in practice. The specific relationships are illustrated with simulated graphical demonstrations, and direct and indirect interpretations of NPMM classes are contrasted. We provide an R function to aid in implementing and visualizing an indirect interpretation of NPMM classes. An empirical example is presented and future directions are discussed. © 2016 The British Psychological Society.

  8. A Non-Parametric Approach for the Activation Detection of Block Design fMRI Simulated Data Using Self-Organizing Maps and Support Vector Machine.

    Science.gov (United States)

    Bahrami, Sheyda; Shamsi, Mousa

    2017-01-01

    Functional magnetic resonance imaging (fMRI) is a popular method to probe the functional organization of the brain using hemodynamic responses. In this method, volume images of the entire brain are obtained with a very good spatial resolution and low temporal resolution. However, they always suffer from high dimensionality in the face of classification algorithms. In this work, we combine a support vector machine (SVM) with a self-organizing map (SOM) for having a feature-based classification by using SVM. Then, a linear kernel SVM is used for detecting the active areas. Here, we use SOM for feature extracting and labeling the datasets. SOM has two major advances: (i) it reduces dimension of data sets for having less computational complexity and (ii) it is useful for identifying brain regions with small onset differences in hemodynamic responses. Our non-parametric model is compared with parametric and non-parametric methods. We use simulated fMRI data sets and block design inputs in this paper and consider the contrast to noise ratio (CNR) value equal to 0.6 for simulated datasets. fMRI simulated dataset has contrast 1-4% in active areas. The accuracy of our proposed method is 93.63% and the error rate is 6.37%.

  9. Dubin's Minimal Linkage Construct Revisited.

    Science.gov (United States)

    Rogers, Donald P.

    This paper contains a theoretical analysis and empirical study that support the major premise of Robert Dubin's minimal-linkage construct-that restricting communication links increases organizational stability. The theoretical analysis shows that fewer communication links are associated with less uncertainty, more redundancy, and greater…

  10. Linkage analysis of quantitative traits for obesity, diabetes, hypertension, and dyslipidemia on the island of Kosrae, Federated States of Micronesia.

    Science.gov (United States)

    Shmulewitz, Dvora; Heath, Simon C; Blundell, Maude L; Han, Zhihua; Sharma, Ratnendra; Salit, Jacqueline; Auerbach, Steven B; Signorini, Stefano; Breslow, Jan L; Stoffel, Markus; Friedman, Jeffrey M

    2006-03-07

    Obesity, diabetes, hypertension, and heart disease are highly heritable conditions that in aggregate are the major causes of morbidity and mortality in the developed world and are growing problems in developing countries. To map the causal genes, we conducted a population screen for these conditions on the Pacific Island of Kosrae. Family history and genetic data were used to construct a pedigree for the island. Analysis of the pedigree showed highly significant heritability for the metabolic traits under study. DNA samples from 2,188 participants were genotyped with 405 microsatellite markers with an average intermarker distance of 11 cM. A protocol using loki, a Markov chain Monte Carlo sampling method, was developed to analyze the Kosraen pedigree for height, a model quantitative trait. Robust quantitative trait loci for height were found on 10q21 and 1p31. This protocol was used to map a set of metabolic traits, including plasma leptin to chromosome region 5q35; systolic blood pressure to 20p12; total cholesterol to 19p13, 12q24, and 16qter; hip circumference to 10q25 and 4q23; body mass index to 18p11 and 20q13; apolipoprotein B to 2p24-25; weight to 18q21; and fasting blood sugar to 1q31-1q43. Several of these same chromosomal regions have been identified in previous studies validating the use of loki. These studies add information about the genetics of the metabolic syndrome and establish an analytical approach for linkage analysis of complex pedigrees. These results also lay the foundation for whole genome scans with dense sets of SNPs aimed to identifying causal genes.

  11. Glycomic analysis of sialic acid linkages in glycans derived from blood serum glycoproteins.

    Science.gov (United States)

    Alley, William R; Novotny, Milos V

    2010-06-04

    A number of alterations to the normal glycomic profile have been previously described for a number of diseases and disorders, thus underscoring the medical importance of studying the glycans associated with proteins present in biological samples. An important alteration in cancer progression is an increased level of alpha2,6-sialylation, which aids in increasing the metastatic potential of tumor cells. Here we report a glycomic method that selectively amidates alpha2,6-linked sialic acids, while those that are alpha2,3-linked undergo spontaneous lactonization. Following subsequent permethylation, MALDI-TOF MS analysis revealed that many sialylated glycans present on glycoproteins found in blood serum featured increased levels of alpha2,6-sialylation in breast cancer samples. On the basis of the altered ratios of alpha2,3-linked to alpha2,6-linked sialic acids, many of these glycans became diagnostically relevant when they did not act as such indicators when based on traditional glycomic profiling alone.

  12. Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q.

    Science.gov (United States)

    Geremek, Maciej; Schoenmaker, Frederieke; Zietkiewicz, Ewa; Pogorzelski, Andrzej; Diehl, Scott; Wijmenga, Cisca; Witt, Michal

    2008-06-01

    Primary ciliary dyskinesia (PCD) is a rare genetic disorder, which shows extensive genetic heterogeneity and is mostly inherited in an autosomal recessive fashion. There are four genes with a proven pathogenetic role in PCD. DNAH5 and DNAI1 are involved in 28 and 10% of PCD cases, respectively, while two other genes, DNAH11 and TXNDC3, have been identified as causal in one PCD family each. We have previously identified a 3.5 cM (2.82 Mb) region on chromosome 15q linked to Kartagener syndrome (KS), a subtype of PCD characterized by the randomization of body organ positioning. We have now refined the KS candidate region to a 1.8 Mb segment containing 18 known genes. The coding regions of these genes and three neighboring genes were subjected to sequence analysis in seven KS probands, and we were able to identify 60 single nucleotide sequence variants, 35 of which resided in mRNA coding sequences. However, none of the variations alone could explain the occurrence of the disease in these patients.

  13. Construction of a genetic linkage map and genetic analysis of domestication related traits in mungbean (Vigna radiata.

    Directory of Open Access Journals (Sweden)

    Takehisa Isemura

    Full Text Available The genetic differences between mungbean and its presumed wild ancestor were analyzed for domestication related traits by QTL mapping. A genetic linkage map of mungbean was constructed using 430 SSR and EST-SSR markers from mungbean and its related species, and all these markers were mapped onto 11 linkage groups spanning a total of 727.6 cM. The present mungbean map is the first map where the number of linkage groups coincided with the haploid chromosome number of mungbean. In total 105 QTLs and genes for 38 domestication related traits were identified. Compared with the situation in other Vigna crops, many linkage groups have played an important role in the domestication of mungbean. In particular the QTLs with high contribution were distributed on seven out of 11 linkage groups. In addition, a large number of QTLs with small contribution were found. The accumulation of many mutations with large and/or small contribution has contributed to the differentiation between wild and cultivated mungbean. The useful QTLs for seed size, pod dehiscence and pod maturity that have not been found in other Asian Vigna species were identified in mungbean, and these QTLs may play the important role as new gene resources for other Asian Vigna species. The results provide the foundation that will be useful for improvement of mungbean and related legumes.

  14. A sugar beet (Beta vulgaris L.) reference FISH karyotype for chromosome and chromosome-arm identification, integration of genetic linkage groups and analysis of major repeat family distribution.

    Science.gov (United States)

    Paesold, Susanne; Borchardt, Dietrich; Schmidt, Thomas; Dechyeva, Daryna

    2012-11-01

    We developed a reference karyotype for B. vulgaris which is applicable to all beet cultivars and provides a consistent numbering of chromosomes and genetic linkage groups. Linkage groups of sugar beet were assigned to physical chromosome arms by FISH (fluorescent in situ hybridization) using a set of 18 genetically anchored BAC (bacterial artificial chromosome) markers. Genetic maps of sugar beet were correlated to chromosome arms, and North-South orientation of linkage groups was established. The FISH karyotype provides a technical platform for genome studies and can be applied for numbering and identification of chromosomes in related wild beet species. The discrimination of all nine chromosomes by BAC probes enabled the study of chromosome-specific distribution of the major repetitive components of sugar beet genome comprising pericentromeric, intercalary and subtelomeric satellites and 18S-5.8S-25S and 5S rRNA gene arrays. We developed a multicolor FISH procedure allowing the identification of all nine sugar beet chromosome pairs in a single hybridization using a pool of satellite DNA probes. Fiber-FISH was applied to analyse five chromosome arms in which the furthermost genetic marker of the linkage group was mapped adjacently to terminal repetitive sequences on pachytene chromosomes. Only on two arms telomere arrays and the markers are physically linked, hence these linkage groups can be considered as terminally closed making the further identification of distal informative markers difficult. The results support genetic mapping by marker localization, the anchoring of contigs and scaffolds for the annotation of the sugar beet genome sequence and the analysis of the chromosomal distribution patterns of major families of repetitive DNA.

  15. Identification of Single Nucleotide Polymorphisms and analysis of Linkage Disequilibrium in sunflower elite inbred lines using the candidate gene approach

    Directory of Open Access Journals (Sweden)

    Heinz Ruth A

    2008-01-01

    Full Text Available Abstract Background Association analysis is a powerful tool to identify gene loci that may contribute to phenotypic variation. This includes the estimation of nucleotide diversity, the assessment of linkage disequilibrium structure (LD and the evaluation of selection processes. Trait mapping by allele association requires a high-density map, which could be obtained by the addition of Single Nucleotide Polymorphisms (SNPs and short insertion and/or deletions (indels to SSR and AFLP genetic maps. Nucleotide diversity analysis of randomly selected candidate regions is a promising approach for the success of association analysis and fine mapping in the sunflower genome. Moreover, knowledge of the distance over which LD persists, in agronomically meaningful sunflower accessions, is important to establish the density of markers and the experimental design for association analysis. Results A set of 28 candidate genes related to biotic and abiotic stresses were studied in 19 sunflower inbred lines. A total of 14,348 bp of sequence alignment was analyzed per individual. In average, 1 SNP was found per 69 nucleotides and 38 indels were identified in the complete data set. The mean nucleotide polymorphism was moderate (θ = 0.0056, as expected for inbred materials. The number of haplotypes per region ranged from 1 to 9 (mean = 3.54 ± 1.88. Model-based population structure analysis allowed detection of admixed individuals within the set of accessions examined. Two putative gene pools were identified (G1 and G2, with a large proportion of the inbred lines being assigned to one of them (G1. Consistent with the absence of population sub-structuring, LD for G1 decayed more rapidly (r2 = 0.48 at 643 bp; trend line, pooled data than the LD trend line for the entire set of 19 individuals (r2 = 0.64 for the same distance. Conclusion Knowledge about the patterns of diversity and the genetic relationships between breeding materials could be an invaluable aid in crop

  16. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham study

    OpenAIRE

    2007-01-01

    Abstract Background Brain magnetic resonance imaging (MRI) and cognitive tests can identify heritable endophenotypes associated with an increased risk of developing stroke, dementia and Alzheimer's disease (AD). We conducted a genome-wide association (GWA) and linkage analysis exploring the genetic basis of these endophenotypes in a community-based sample. Methods A total of 705 stroke- and dementia-free Framingham participants (age 62 +9 yrs, 50% male) who underwent volumetric brain MRI and ...

  17. Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis.

    Science.gov (United States)

    Ichihara, Sahoko; Yamamoto, Ken; Asano, Hiroyuki; Nakatochi, Masahiro; Sukegawa, Mayo; Ichihara, Gaku; Izawa, Hideo; Hirashiki, Akihiro; Takatsu, Fumimaro; Umeda, Hisashi; Iwase, Mitsunori; Inagaki, Haruo; Hirayama, Haruo; Sone, Takahito; Nishigaki, Kazuhiko; Minatoguchi, Shinya; Cho, Myeong-Chan; Jang, Yangsoo; Kim, Hyo-Soo; Park, Jeong E; Tada-Oikawa, Saeko; Kitajima, Hidetoshi; Matsubara, Tatsuaki; Sunagawa, Kenji; Shimokawa, Hiroaki; Kimura, Akinori; Lee, Jong-Young; Murohara, Toyoaki; Inoue, Ituro; Yokota, Mitsuhiro

    2013-12-01

    Myocardial infarction (MI) is a leading cause of death worldwide. Given that a family history is an independent risk factor for coronary artery disease, genetic variants are thought to contribute directly to the development of this condition. The identification of susceptibility genes for coronary artery disease or MI may thus help to identify high-risk individuals and offer the opportunity for disease prevention. We designed a 5-step protocol, consisting of a genome-wide linkage study followed by association analysis, to identify novel genetic variants that confer susceptibility to coronary artery disease or MI. A genome-wide affected sib-pair linkage study with 221 Japanese families with coronary artery disease yielded a statistically significant logarithm of the odds score of 3.44 for chromosome 2p13 and MI. Further association analysis implicated Alström syndrome 1 gene (ALMS1) as a candidate gene within the linkage region. Validation association analysis revealed that representative single-nucleotide polymorphisms of the ALMS1 promoter region were significantly associated with early-onset MI in both Japanese and Korean populations. Moreover, direct sequencing of the ALMS1 coding region identified a glutamic acid repeat polymorphism in exon 1, which was subsequently found to be associated with early-onset MI. The glutamic acid repeat polymorphism of ALMS1 identified in the present study may provide insight into the pathogenesis of early-onset MI.

  18. Short-term monitoring of benzene air concentration in an urban area: a preliminary study of application of Kruskal-Wallis non-parametric test to assess pollutant impact on global environment and indoor.

    Science.gov (United States)

    Mura, Maria Chiara; De Felice, Marco; Morlino, Roberta; Fuselli, Sergio

    2010-01-01

    In step with the need to develop statistical procedures to manage small-size environmental samples, in this work we have used concentration values of benzene (C6H6), concurrently detected by seven outdoor and indoor monitoring stations over 12 000 minutes, in order to assess the representativeness of collected data and the impact of the pollutant on indoor environment. Clearly, the former issue is strictly connected to sampling-site geometry, which proves critical to correctly retrieving information from analysis of pollutants of sanitary interest. Therefore, according to current criteria for network-planning, single stations have been interpreted as nodes of a set of adjoining triangles; then, a) node pairs have been taken into account in order to estimate pollutant stationarity on triangle sides, as well as b) node triplets, to statistically associate data from air-monitoring with the corresponding territory area, and c) node sextuplets, to assess the impact probability of the outdoor pollutant on indoor environment for each area. Distributions from the various node combinations are all non-Gaussian, in the consequently, Kruskal-Wallis (KW) non-parametric statistics has been exploited to test variability on continuous density function from each pair, triplet and sextuplet. Results from the above-mentioned statistical analysis have shown randomness of site selection, which has not allowed a reliable generalization of monitoring data to the entire selected territory, except for a single "forced" case (70%); most important, they suggest a possible procedure to optimize network design.

  19. Short-term monitoring of benzene air concentration in an urban area: a preliminary study of application of Kruskal-Wallis non-parametric test to assess pollutant impact on global environment and indoor

    Directory of Open Access Journals (Sweden)

    Maria Chiara Mura

    2010-12-01

    Full Text Available In step with the need to develop statistical procedures to manage small-size environmental samples, in this work we have used concentration values of benzene (C6H6, concurrently detected by seven outdoor and indoor monitoring stations over 12 000 minutes, in order to assess the representativeness of collected data and the impact of the pollutant on indoor environment. Clearly, the former issue is strictly connected to sampling-site geometry, which proves critical to correctly retrieving information from analysis of pollutants of sanitary interest. Therefore, according to current criteria for network-planning, single stations have been interpreted as nodes of a set of adjoining triangles; then, a node pairs have been taken into account in order to estimate pollutant stationarity on triangle sides, as well as b node triplets, to statistically associate data from air-monitoring with the corresponding territory area, and c node sextuplets, to assess the impact probability of the outdoor pollutant on indoor environment for each area. Distributions from the various node combinations are all non-Gaussian, in the consequently, Kruskal-Wallis (KW non-parametric statistics has been exploited to test variability on continuous density function from each pair, triplet and sextuplet. Results from the above-mentioned statistical analysis have shown randomness of site selection, which has not allowed a reliable generalization of monitoring data to the entire selected territory, except for a single "forced" case (70%; most important, they suggest a possible procedure to optimize network design.

  20. BATTEN-DISEASE GENE, CLN3 - LINKAGE DISEQUILIBRIUM MAPPING IN THE FINNISH POPULATION, AND ANALYSIS OF EUROPEAN HAPLOTYPES

    NARCIS (Netherlands)

    MITCHISON, HM; ORAWE, AM; TASCHNER, PEM; SANDKUIJL, LA; SANTAVUORI, P; DEVOS, N; BREUNING, MH; MOLE, SE; GARDINER, RM; JARVELA, IE

    The gene for Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, or Spielmeyer-Sjogren disease), CLN3, maps to 16p11.2-12.1. Four microsatellite markers-D16S288, D16S299, D16S298, and SPN-are in strong linkage disequilibrium with CLN3 in 142 families from 16 different countries. These

  1. Cost-Utility Analysis of Three U.S. HIV Linkage and Re-engagement in Care Programs from Positive Charge.

    Science.gov (United States)

    Jain, Kriti M; Zulliger, Rose; Maulsby, Cathy; Kim, Jeeyon Janet; Charles, Vignetta; Riordan, Maura; Holtgrave, David

    2016-05-01

    Linking and retaining people living with HIV in ongoing, HIV medical care is vital for ending the U.S. HIV epidemic. Yet, 41-44 % of HIV+ individuals are out of care. In response, AIDS United initiated Positive Charge, a series of five HIV linkage and re-engagement projects around the U.S. This paper investigates whether three Positive Charge programs were cost effective and calculates a return on investment for each program. It uses standard methods of cost utility analysis and WHO-CHOICE thresholds. All three projects were found to be cost effective, and two were highly cost effective. Cost utility ratios ranged from $4439 to $137,271. These results suggest that HIV linkage to care programs are a productive and efficient use of public health funds.

  2. Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2

    Energy Technology Data Exchange (ETDEWEB)

    San Millan, J.L.; Viribay, M.; Peral, B.; Moreno, F. [Unidad de Genetica Molecular, Madrid (Spain); Martinez, I. [Hospital de Galdacano (Spain); Weissenbach, J. [Genethon, Evry (France)

    1995-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. At least two distinct forms of ADPKD are now well defined. In {approximately}86% of affected European families, a gene defect localized to 16p13.3 was responsible for ADPKD, while a second locus has been recently localized to 4q13-q23 as candidate for the disease in the remaining families. We present confirmation of linkage to microsatellite markers on chromosome 4q in eight Spanish families with ADPKD, in which the disease was not linked to 16p13.3. By linkage analysis with marker D4S423, a maximum lod score of 9.03 at a recombination fraction of .00 was obtained. Multipoint linkage analysis, as well as a study of recombinant haplotypes, placed the PKD2 locus between D4S1542 and D4S1563, thereby defining a genetic interval of {approximately}1 cM. The refined map will serve as a genetic framework for additional genetic and physical mapping of the region and will improve the accuracy of presymptomatic diagnosis of PKD2. 25 refs., 4 figs., 1 tab.

  3. Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs.

    Directory of Open Access Journals (Sweden)

    Delphine Fradin

    Full Text Available BACKGROUND: Autism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to detect linkage and association. METHODS AND FINDINGS: We have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE and the National Institute of Mental Health (NIMH autism repository. We report parametric (GH, Genehunter and allele-sharing linkage (Aspex results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LOD(GH = 3.79, empirical p<0.005 and LOD(Aspex = 2.96, p = 0.008, 15 (LOD(GH = 3.09, empirical p<0.005 and LOD(Aspex = 3.62, empirical p = 0.003 and 20 (LOD(GH = 3.36, empirical p<0.005 and LOD(Aspex = 3.38, empirical p = 0.006. CONCLUSIONS: These regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.

  4. Five blood pressure loci identified by an updated genome-wide linkage scan: meta-analysis of the Family Blood Pressure Program.

    Science.gov (United States)

    Simino, Jeannette; Shi, Gang; Kume, Rezart; Schwander, Karen; Province, Michael A; Gu, C Charles; Kardia, Sharon; Chakravarti, Aravinda; Ehret, Georg; Olshen, Richard A; Turner, Stephen T; Ho, Low-Tone; Zhu, Xiaofeng; Jaquish, Cashell; Paltoo, Dina; Cooper, Richard S; Weder, Alan; Curb, J David; Boerwinkle, Eric; Hunt, Steven C; Rao, Dabeeru C

    2011-03-01

    A preliminary genome-wide linkage analysis of blood pressure in the Family Blood Pressure Program (FBPP) was reported previously. We harnessed the power and ethnic diversity of the final pooled FBPP dataset to identify novel loci for blood pressure thereby enhancing localization of genes containing less common variants with large effects on blood pressure levels and hypertension. We performed one overall and 4 race-specific meta-analyses of genome-wide blood pressure linkage scans using data on 4,226 African-American, 2,154 Asian, 4,229 Caucasian, and 2,435 Mexican-American participants (total N = 13,044). Variance components models were fit to measured (raw) blood pressure levels and two types of antihypertensive medication adjusted blood pressure phenotypes within each of 10 subgroups defined by race and network. A modified Fisher's method was used to combine the P values for each linkage marker across the 10 subgroups. Five quantitative trait loci (QTLs) were detected on chromosomes 6p22.3, 8q23.1, 20q13.12, 21q21.1, and 21q21.3 based on significant linkage evidence (defined by logarithm of odds (lod) score ≥3) in at least one meta-analysis and lod scores ≥1 in at least 2 subgroups defined by network and race. The chromosome 8q23.1 locus was supported by Asian-, Caucasian-, and Mexican-American-specific meta-analyses. The new QTLs reported justify new candidate gene studies. They may help support results from genome-wide association studies (GWAS) that fall in these QTL regions but fail to achieve the genome-wide significance.

  5. Using Linkage Analysis to Detect Gene-Gene Interactions. 2. Improved Reliability and Extension to More-Complex Models.

    Directory of Open Access Journals (Sweden)

    Susan E Hodge

    Full Text Available Detecting gene-gene interaction in complex diseases has become an important priority for common disease genetics, but most current approaches to detecting interaction start with disease-marker associations. These approaches are based on population allele frequency correlations, not genetic inheritance, and therefore cannot exploit the rich information about inheritance contained within families. They are also hampered by issues of rigorous phenotype definition, multiple test correction, and allelic and locus heterogeneity. We recently developed, tested, and published a powerful gene-gene interaction detection strategy based on conditioning family data on a known disease-causing allele or a disease-associated marker allele4. We successfully applied the method to disease data and used computer simulation to exhaustively test the method for some epistatic models. We knew that the statistic we developed to indicate interaction was less reliable when applied to more-complex interaction models. Here, we improve the statistic and expand the testing procedure. We computer-simulated multipoint linkage data for a disease caused by two interacting loci. We examined epistatic as well as additive models and compared them with heterogeneity models. In all our models, the at-risk genotypes are "major" in the sense that among affected individuals, a substantial proportion has a disease-related genotype. One of the loci (A has a known disease-related allele (as would have been determined from a previous analysis. We removed (pruned family members who did not carry this allele; the resultant dataset is referred to as "stratified." This elimination step has the effect of raising the "penetrance" and detectability at the second locus (B. We used the lod scores for the stratified and unstratified data sets to calculate a statistic that either indicated the presence of interaction or indicated that no interaction was detectable. We show that the new method is robust

  6. Structure-Function Analysis of a Mixed-linkage β-Glucanase/Xyloglucanase from the Key Ruminal Bacteroidetes Prevotella bryantii B(1)4.

    Science.gov (United States)

    McGregor, Nicholas; Morar, Mariya; Fenger, Thomas Hauch; Stogios, Peter; Lenfant, Nicolas; Yin, Victor; Xu, Xiaohui; Evdokimova, Elena; Cui, Hong; Henrissat, Bernard; Savchenko, Alexei; Brumer, Harry

    2016-01-15

    The recent classification of glycoside hydrolase family 5 (GH5) members into subfamilies enhances the prediction of substrate specificity by phylogenetic analysis. However, the small number of well characterized members is a current limitation to understanding the molecular basis of the diverse specificity observed across individual GH5 subfamilies. GH5 subfamily 4 (GH5_4) is one of the largest, with known activities comprising (carboxymethyl)cellulases, mixed-linkage endo-glucanases, and endo-xyloglucanases. Through detailed structure-function analysis, we have revisited the characterization of a classic GH5_4 carboxymethylcellulase, PbGH5A (also known as Orf4, carboxymethylcellulase, and Cel5A), from the symbiotic rumen Bacteroidetes Prevotella bryantii B14. We demonstrate that carboxymethylcellulose and phosphoric acid-swollen cellulose are in fact relatively poor substrates for PbGH5A, which instead exhibits clear primary specificity for the plant storage and cell wall polysaccharide, mixed-linkage β-glucan. Significant activity toward the plant cell wall polysaccharide xyloglucan was also observed. Determination of PbGH5A crystal structures in the apo-form and in complex with (xylo)glucan oligosaccharides and an active-site affinity label, together with detailed kinetic analysis using a variety of well defined oligosaccharide substrates, revealed the structural determinants of polysaccharide substrate specificity. In particular, this analysis highlighted the PbGH5A active-site motifs that engender predominant mixed-linkage endo-glucanase activity vis à vis predominant endo-xyloglucanases in GH5_4. However the detailed phylogenetic analysis of GH5_4 members did not delineate particular clades of enzymes sharing these sequence motifs; the phylogeny was instead dominated by bacterial taxonomy. Nonetheless, our results provide key enzyme functional and structural reference data for future bioinformatics analyses of (meta)genomes to elucidate the biology of

  7. Genetic linkage map and expression analysis of genes expressed in the lamellae of the edible basidiomycete Pleurotus ostreatus.

    Science.gov (United States)

    Park, Sang-Kyu; Peñas, María M; Ramírez, Lucía; Pisabarro, Antonio G

    2006-05-01

    Pleurotus ostreatus is an industrially cultivated basidiomycete with nutritional and environmental applications. Its genome contains 35 Mbp organized in 11 chromosomes. There is currently available a genetic linkage map based predominantly on anonymous molecular markers complemented with the mapping of QTLs controlling growth rate and industrial productivity. To increase the saturation of the existing linkage maps, we have identified and mapped 82 genes expressed in the lamellae. Their manual annotation revealed that 34.1% of the lamellae-expressed and 71.5% of the lamellae-specific genes correspond to previously unknown sequences or to hypothetical proteins without a clearly established function. Furthermore, the expression pattern of some genes provides an experimental basis for studying gene regulation during the change from vegetative to reproductive growth. Finally, the identification of various differentially regulated genes involved in protein metabolism suggests the relevance of these processes in fruit body formation and maturation.

  8. Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs

    OpenAIRE

    Delphine Fradin; Keely Cheslack-Postava; Christine Ladd-Acosta; Craig Newschaffer; Aravinda Chakravarti; Arking, Dan E.; Andrew Feinberg; M Daniele Fallin

    2010-01-01

    BACKGROUND: Autism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to d...

  9. Comparative analysis of premature mortality among urban immigrants in Bremen, Germany: a retrospective register-based linkage study

    OpenAIRE

    Makarova, Nataliya; Brand, Tilman; Brünings-Kuppe, Claudia; Pohlabeln, Hermann; Luttmann, Sabine

    2016-01-01

    Objectives The main objective of this study was to explore differences in mortality patterns among two large immigrant groups in Germany: one from Turkey and the other from the former Soviet Union (FSU). To this end, we investigated indicators of premature mortality. Design This study was conducted as a retrospective population-based study based on mortality register linkage. Using mortality data for the period 2004–2010, we calculated age-standardised death rates (SDR) and standardised morta...

  10. Exploring a Nonmodel Teleost Genome Through RAD Sequencing—Linkage Mapping in Common Pandora, Pagellus erythrinus and Comparative Genomic Analysis

    OpenAIRE

    Tereza Manousaki; Alexandros Tsakogiannis; Taggart, John B.; Christos Palaiokostas; Dimitris Tsaparis; Jacques Lagnel; Dimitrios Chatziplis; Antonios Magoulas; Nikos Papandroulakis; Mylonas, Constantinos C.; Tsigenopoulos, Costas S

    2016-01-01

    Common pandora (Pagellus erythrinus) is a benthopelagic marine fish belonging to the teleost family Sparidae, and a newly recruited species in Mediterranean aquaculture. The paucity of genetic information relating to sparids, despite their growing economic value for aquaculture, provides the impetus for exploring the genomics of this fish group. Genomic tool development, such as genetic linkage maps provision, lays the groundwork for linking the genotype to phenotype allowing fine-mapping of ...

  11. High density linkage mapping of genomic and transcriptomic SNPs for synteny analysis and anchoring the genome sequence of chickpea

    Science.gov (United States)

    Gaur, Rashmi; Jeena, Ganga; Shah, Niraj; Gupta, Shefali; Pradhan, Seema; Tyagi, Akhilesh K; Jain, Mukesh; Chattopadhyay, Debasis; Bhatia, Sabhyata

    2015-01-01

    This study presents genome-wide discovery of SNPs through next generation sequencing of the genome of Cicer reticulatum. Mapping of the C. reticulatum sequenced reads onto the draft genome assembly of C. arietinum (desi chickpea) resulted in identification of 842,104 genomic SNPs which were utilized along with an additional 36,446 genic SNPs identified from transcriptome sequences of the aforementioned varieties. Two new chickpea Oligo Pool All (OPAs) each having 3,072 SNPs were designed and utilized for SNP genotyping of 129 Recombinant Inbred Lines (RILs). Using Illumina GoldenGate Technology genotyping data of 5,041 SNPs were generated and combined with the 1,673 marker data from previously published studies, to generate a high resolution linkage map. The map comprised of 6698 markers distributed on eight linkage groups spanning 1083.93 cM with an average inter-marker distance of 0.16 cM. Utility of the present map was demonstrated for improving the anchoring of the earlier reported draft genome sequence of desi chickpea by ~30% and that of kabuli chickpea by 18%. The genetic map reported in this study represents the most dense linkage map of chickpea , with the potential to facilitate efficient anchoring of the draft genome sequences of desi as well as kabuli chickpea varieties. PMID:26303721

  12. Aspects of record linkage

    NARCIS (Netherlands)

    Schraagen, Marijn Paul

    2014-01-01

    This thesis is an exploration of the subject of historical record linkage. The general goal of historical record linkage is to discover relations between historical entities in a database, for any specific definition of relation, entity and database. Although this task originates from historical

  13. Subsidiary Linkage Patterns

    DEFF Research Database (Denmark)

    Andersson, Ulf; Perri, Alessandra; Nell, Phillip C.

    2012-01-01

    This paper investigates the pattern of subsidiaries' local vertical linkages under varying levels of competition and subsidiary capabilities. Contrary to most previous literature, we explicitly account for the double role of such linkages as conduits of learning prospects as well as potential...

  14. Analysis of four studies in a comparative framework reveals: health linkage consent rates on British cohort studies higher than on UK household panel surveys.

    Science.gov (United States)

    Knies, Gundi; Burton, Jonathan

    2014-11-27

    A number of cohort studies and longitudinal household panel studies in Great Britain have asked for consent to link survey data to administrative health data. We explore commonalities and differences in the process of collecting consent, achieved consent rates and biases in consent with respect to socio-demographic, socio-economic and health characteristics. We hypothesise that British cohort studies which are rooted within the health sciences achieve higher consent rates than the UK household longitudinal studies which are rooted within the social sciences. By contrast, the lack of a specific health focus in household panel studies means there may be less selectivity in consent, in particular, with respect to health characteristics. Survey designs and protocols for collecting informed consent to health record linkage on two British cohort studies and two UK household panel studies are systematically compared. Multivariate statistical analysis is then performed on information from one cohort and two household panel studies that share a great deal of the data linkage protocol but vary according to study branding, survey design and study population. We find that consent is higher in the British cohort studies than in the UK household panel studies, and is higher the more health-focused the study is. There are no systematic patterns of consent bias across the studies and where effects exist within a study or study type they tend to be small. Minority ethnic groups will be underrepresented in record linkage studies on the basis of all three studies. Systematic analysis of three studies in a comparative framework suggests that the factors associated with consent are idiosyncratic to the study. Analysis of linked health data is needed to establish whether selectivity in consent means the resulting research databases suffer from any biases that ought to be considered.

  15. Of River Linkage and Issue Linkage

    NARCIS (Netherlands)

    Warner, Jeroen Frank

    2016-01-01

    It is a truism in mainstream International Relations that issue linkage promotes regime formation and integration. The present article applies this idea to the transboundary lower river Meuse and finds its history of integration to be a tortuous one. Contextual political factors have at times

  16. On the measurement of capacity utilisation and coast efficiency: a non-parametric approach at firm level

    Directory of Open Access Journals (Sweden)

    Prior Diego

    2002-01-01

    Full Text Available In this paper we evaluate the inefficiency generated by an inadequate structure of the fixed inputs and by the difficulty to adjust them in the short-run in a sample of Romanian firms in the chemical industry over the period 1996-1997. We use Data Envelopment Analysis (DEA and apply this methodology in an innovative setting using a cost analysis instead of the technical efficiency approach. The results show inefficiency in most of the cases due to a low degree of capacity utilisation.

  17. Inheritance of 15 microsatellites in the Pacific oyster Crassostrea gigas: segregation and null allele identification for linkage analysis

    Institute of Scientific and Technical Information of China (English)

    LI Li; GUO Ximing; ZHANG Guofan

    2009-01-01

    Microsatellites were screened in a backcross family of the Pacific oyster, Crassostrea gigas. Fifteen microsatellite loci were distinguishable and polymorphic with 6 types of allele-combinations. Null alleles were detected in 46.7% of loci, accounting for 11.7% of the total alleles. Four loci did not segregate in Mendelian Ratios. Three linkage groups were identified among 7 of the 15 segregating loci. Fluorescence-based automated capillary electrophoresis (ABI 310 Genetic Analyzer) that used to detect the microsatellite loci, has been proved a fast, precise, and reliable method in microsatellite genotyping.

  18. A new powerful non-parametric two-stage approach for testing multiple phenotypes in family-based association studies

    NARCIS (Netherlands)

    Lange, C; Lyon, H; DeMeo, D; Raby, B; Silverman, EK; Weiss, ST

    2003-01-01

    We introduce a new powerful nonparametric testing strategy for family-based association studies in which multiple quantitative traits are recorded and the phenotype with the strongest genetic component is not known prior to the analysis. In the first stage, using a population-based test based on the

  19. Construction of a genetic linkage map and QTL analysis for some leaf traits in pear (Pyrus L .)

    Institute of Scientific and Technical Information of China (English)

    Wenying SUN; Yuxing ZHANG; Wenquan LE; Hai'e ZHANG

    2009-01-01

    The major incompatibility barriers to specific inbred lines and the long generation duration in Pyrus L. May hinder the Pyrus breeding process. A genetic linkage map provides the foundation for quantitative trait loci (QTL) mapping and molecular marker-assisted breeding. In this study, we constructed a genetic map with 145 F1 populations from a cross of two cultivars, Yali and Jingbaili, using AFLP and SSR markers. The map consisted of 18 linkage groups which included 402 genetic markers and covered 1395.9 cM, with an average genetic distance of 3.8 cM. The interval mapping was used to identify quantitative trait loci associated with four leaf agronomic traits in the F1 population. The results indicated that four QTLs were associated with leaf length, two QTLs with leaf width, two with leaf length/leaf width, and three with petiole length. The eleven QTLs were associated with 9.9%-48.5% of the phenotypic variation in different traits. It is considered that the map covers almost the whole genome, and molecular markers will be greatly helpful to the related breeding.

  20. Linkage analysis between dominant and co-dominant makers in full-sib families of out-breeding species

    Directory of Open Access Journals (Sweden)

    Alexandre Alonso Alves

    2010-01-01

    Full Text Available As high-throughput genomic tools, such as the DNA microarray platform, have lead to the development of novel genotyping procedures, such as Diversity Arrays Technology (DArT and Single Nucleotide Polymorphisms (SNPs, it is likely that, in the future, high density linkage maps will be constructed from both dominant and co-dominant markers. Recently, a strictly genetic approach was described for estimating recombination frequency (r between co-dominant markers in full-sib families. The complete set of maximum likelihood estimators for r in full-sib families was almost obtained, but unfortunately, one particular configuration involving dominant markers, segregating in a 3:1 ratio and co-dominant markers, was not considered. Here we add nine further estimators to the previously published set, thereby making it possible to cover all combinations of molecular markers with two to four alleles (without epistasis in a full-sib family. This includes segregation in one or both parents, dominance and all linkage phase configurations.

  1. Linkage analysis between dominant and co-dominant makers in full-sib families of out-breeding species.

    Science.gov (United States)

    Alves, Alexandre Alonso; Bhering, Leonardo Lopes; Cruz, Cosme Damião; Alfenas, Acelino Couto

    2010-07-01

    As high-throughput genomic tools, such as the DNA microarray platform, have lead to the development of novel genotyping procedures, such as Diversity Arrays Technology (DArT) and Single Nucleotide Polymorphisms (SNPs), it is likely that, in the future, high density linkage maps will be constructed from both dominant and co-dominant markers. Recently, a strictly genetic approach was described for estimating recombination frequency (r) between co-dominant markers in full-sib families. The complete set of maximum likelihood estimators for r in full-sib families was almost obtained, but unfortunately, one particular configuration involving dominant markers, segregating in a 3:1 ratio and co-dominant markers, was not considered. Here we add nine further estimators to the previously published set, thereby making it possible to cover all combinations of molecular markers with two to four alleles (without epistasis) in a full-sib family. This includes segregation in one or both parents, dominance and all linkage phase configurations.

  2. Development of a molecular genetic linkage map for Colletotrichum lindemuthianum and segregation analysis of two avirulence genes.

    Science.gov (United States)

    Luna-Martínez, Francisco; Rodríguez-Guerra, Raúl; Victoria-Campos, Mayra; Simpson, June

    2007-02-01

    A framework genetic map was developed for the fungal pathogen Colletotrichum lindemuthianum, the causal agent of anthracnose of common bean (Phaseolus vulgaris L.). This is the first genetic map for any species within the family Melanconiaceae and the genus Colletotrichum and provides the first estimate of genome length for C. lindemuthianum. The map was generated using 106 haploid F1 progeny derived from crossing two Mexican C. lindemuthianum isolates differing in two avirulence genes (AvrclMex and AvrclTO). The map comprises 165 AFLP markers covering 1,897 cM with an average spacing of 11.49 cM. The markers are distributed over 19 major linkage groups containing between 5 and 25 markers each and the genome length was estimated to be approximately 3,241 cM. The avirulence genes AvrclMex and AvrclTO segregate in a 1:1 ratio supporting the gene for gene hypothesis for the incompatible reaction between C. lindemuthianum and P. vulgaris, but could not be incorporated into the genetic map. This initial outline map forms the basis for the development of a more detailed C. lindemuthianum linkage map, which would include other types of molecular markers and allow the location of genes previously isolated and characterized in this species.

  3. A complete genetic linkage map and QTL analyses for bast fibre quality traits, yield and yield components in jute (Corchorus olitorius L.).

    Science.gov (United States)

    Topdar, N; Kundu, A; Sinha, M K; Sarkar, D; Das, M; Banerjee, S; Kar, C S; Satya, P; Balyan, H S; Mahapatra, B S; Gupta, P K

    2013-01-01

    We report the first complete microsatellite genetic map of jute (Corchorus olitorius L.; 2n = 2x = 14) using an F6 recombinant inbred population. Of the 403 microsatellite markers screened, 82 were mapped on the seven linkage groups (LGs) that covered a total genetic distance of 799.9 cM, with an average marker interval of 10.7 cM. LG5 had the longest and LG7 the shortest genetic lengths, whereas LG1 had the maximum and LG7 the minimum number of markers. Segregation distortion of microsatellite loci was high (61%), with the majority of them (76%) skewed towards the female parent. Genomewide non-parametric single-marker analysis in combination with multiple quantitative trait loci (QTL)-models (MQM) mapping detected 26 definitive QTLs for bast fibre quality, yield and yield-related traits. These were unevenly distributed on six LGs, as colocalized clusters, at genomic sectors marked by 15 microsatellite loci. LG1 was the QTL-richest map sector, with the densest colocalized clusters of QTLs governing fibre yield, yield-related traits and tensile strength. Expectedly, favorable QTLs were derived from the desirable parents, except for nearly all of those of fibre fineness, which might be due to the creation of new gene combinations. Our results will be a good starting point for further genome analyses in jute.

  4. A non-parametric mixture model for genome-enabled prediction of genetic value for a quantitative trait.

    Science.gov (United States)

    Gianola, Daniel; Wu, Xiao-Lin; Manfredi, Eduardo; Simianer, Henner

    2010-10-01

    A Bayesian nonparametric form of regression based on Dirichlet process priors is adapted to the analysis of quantitative traits possibly affected by cryptic forms of gene action, and to the context of SNP-assisted genomic selection, where the main objective is to predict a genomic signal on phenotype. The procedure clusters unknown genotypes into groups with distinct genetic values, but in a setting in which the number of clusters is unknown a priori, so that standard methods for finite mixture analysis do not work. The central assumption is that genetic effects follow an unknown distribution with some "baseline" family, which is a normal process in the cases considered here. A Bayesian analysis based on the Gibbs sampler produces estimates of the number of clusters, posterior means of genetic effects, a measure of credibility in the baseline distribution, as well as estimates of parameters of the latter. The procedure is illustrated with a simulation representing two populations. In the first one, there are 3 unknown QTL, with additive, dominance and epistatic effects; in the second, there are 10 QTL with additive, dominance and additive × additive epistatic effects. In the two populations, baseline parameters are inferred correctly. The Dirichlet process model infers the number of unique genetic values correctly in the first population, but it produces an understatement in the second one; here, the true number of clusters is over 900, and the model gives a posterior mean estimate of about 140, probably because more replication of genotypes is needed for correct inference. The impact on inferences of the prior distribution of a key parameter (M), and of the extent of replication, was examined via an analysis of mean body weight in 192 paternal half-sib families of broiler chickens, where each sire was genotyped for nearly 7,000 SNPs. In this small sample, it was found that inference about the number of clusters was affected by the prior distribution of M. For a

  5. Review on the Application of Web Linkage-analysis%网络链接分析应用研究综述

    Institute of Scientific and Technical Information of China (English)

    文庭孝; 王尧; 杨雅惟; 刘璇

    2011-01-01

    Web linkage-analysis is an important method in Webometrics research,and it has extensive application.Now Web linkage-analysis was used in following fields: web information resourse assessment,website impact evaluation,university evaluation,discovery of co%网络链接分析法是网络信息计量学研究的重要研究方法,具有广泛的应用。目前国内外主要将网络链接分析方法用于网络信息资源评价、网站网络影响力评价、大学评价、核心网络与核心作者发现、竞争情报与竞争对手分析、网站关联分析、期刊评价以及搜索引擎优化等方面。

  6. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

    Science.gov (United States)

    Khan, A O; Budde, B S; Nürnberg, P; Kawalia, A; Lenzner, S; Bolz, H J

    2017-03-30

    To uncover the genotype underlying early-onset cone-rod dystrophy and central nummular macular atrophic lesion in 2 siblings from an endogamous Arab family, we performed targeted next-generation sequencing (NGS) of 44 retinal dystrophy genes, whole-exome sequencing (WES) and genome-wide linkage analysis. Targeted NGS and WES in the index patient highlighted 2 homozygous variants, a CCDC66 frameshift deletion and a novel missense NMNAT1 variant, c.500G>A (p.Asn167Ser). Linkage and segregation analysis excluded the CCDC66 variant and confirmed the NMNAT1 mutation. Biallelic NMNAT1 mutations cause Leber congenital amaurosis with a central nummular macular atrophic lesion (LCA9). The NMNAT1 mutation reported here underlied cone-rod dystrophy rather than LCA but the fundus lesion was compatible with that of LCA9 patients, highlighting that such a fundus appearance should raise suspicion for biallelic mutations in NMNAT1 when in the context of any retinal dystrophy. Although Ccdc66 mutations have been proposed to cause retinal disease in dogs, our results and public databases challenge CCDC66 as a candidate gene for human retinal dystrophy. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage

    Science.gov (United States)

    Stuart, P; Nair, R P; Abecasis, G R; Nistor, I; Hiremagalore, R; Chia, N V; Qin, Z S; Thompson, R A; Jenisch, S; Weichenthal, M; Janiga, J; Lim, H W; Christophers, E; Voorhees, J J; Elder, J T

    2006-01-01

    Background A previous study identified two peaks of allelic association between psoriasis and single nucleotide polymorphisms (SNPs) mapping to distal chromosome 17q, including a disease associated SNP that leads to loss of a RUNX1 transcription factor binding site, and additional SNPs in the third intron of the RAPTOR gene. Another study found an association with SNPs in the RAPTOR gene, but not with the RUNX1 binding site polymorphism. Methods In an effort to confirm these observations, we genotyped 579 pedigrees containing 1285 affected individuals for three SNPs immediately flanking and including the RUNX1 binding site, and for three SNPs in the RAPTOR gene. Results Here we report further evidence for linkage to distal chromosome 17q, with a linkage peak mapping 1.7 cM distal to the RUNX1 binding site (logarithm of the odds 2.26 to 2.73, depending upon statistic used). However, we found no evidence for association to individual SNPs or haplotypes in either of the previously identified peaks of association. Power analysis demonstrated 80% power to detect significant association at genotype relative risks of 1.2 (additive and multiplicative models) to 1.5 (dominant and recessive models) for the RUNX1 binding site, and 1.3 to 1.4 for the RAPTOR locus under all models except dominant. Conclusions Our data provide no support for the previously identified RUNX1 binding site or for the RAPTOR locus as genetic determinants of psoriasis, despite evidence for linkage of psoriasis to distal chromosome 17q. PMID:15923274

  8. Using linkage analysis to detect gene-gene interaction by stratifying family data on known disease, or disease-associated, alleles.

    Directory of Open Access Journals (Sweden)

    Barbara Corso

    Full Text Available Detecting gene-gene interaction in complex diseases is a major challenge for common disease genetics. Most interaction detection approaches use disease-marker associations and such methods have low power and unknown reliability in real data. We developed and tested a powerful linkage-analysis-based gene-gene interaction detection strategy based on conditioning the family data on a known disease-causing allele or disease-associated marker allele. We computer-generated multipoint linkage data for a disease caused by two epistatically interacting loci (A and B. We examined several two-locus epistatic inheritance models: dominant-dominant, dominant-recessive, recessive-dominant, recessive-recessive. At one of the loci (A, there was a known disease-related allele. We stratified the family data on the presence of this allele, eliminating family members who were without it. This elimination step has the effect of raising the "penetrance" at the second locus (B. We then calculated the lod score at the second locus (B and compared the pre- and post-stratification lod scores at B. A positive difference indicated interaction. We also examined if it was possible to detect interaction with locus B based on a disease-marker association (instead of an identified disease allele at locus A. We also tested whether the presence of genetic heterogeneity would generate false positive evidence of interaction. The power to detect interaction for a known disease allele was 60-90%. The probability of false positives, based on heterogeneity, was low. Decreasing linkage disequilibrium between the disease and marker at locus A decreased the likelihood of detecting interaction. The allele frequency of the associated marker made little difference to the power.

  9. Characterizing Ipomopsis rubra (Polemoniaceae) germination under various thermal scenarios with non-parametric and semi-parametric statistical methods.

    Science.gov (United States)

    Pérez, Hector E; Kettner, Keith

    2013-10-01

    Time-to-event analysis represents a collection of relatively new, flexible, and robust statistical techniques for investigating the incidence and timing of transitions from one discrete condition to another. Plant biology is replete with examples of such transitions occurring from the cellular to population levels. However, application of these statistical methods has been rare in botanical research. Here, we demonstrate the use of non- and semi-parametric time-to-event and categorical data analyses to address questions regarding seed to seedling transitions of Ipomopsis rubra propagules exposed to various doses of constant or simulated seasonal diel temperatures. Seeds were capable of germinating rapidly to >90 % at 15-25 or 22/11-29/19 °C. Optimum temperatures for germination occurred at 25 or 29/19 °C. Germination was inhibited and seed viability decreased at temperatures ≥30 or 33/24 °C. Kaplan-Meier estimates of survivor functions indicated highly significant differences in temporal germination patterns for seeds exposed to fluctuating or constant temperatures. Extended Cox regression models specified an inverse relationship between temperature and the hazard of germination. Moreover, temperature and the temperature × day interaction had significant effects on germination response. Comparisons to reference temperatures and linear contrasts suggest that summer temperatures (33/24 °C) play a significant role in differential germination responses. Similarly, simple and complex comparisons revealed that the effects of elevated temperatures predominate in terms of components of seed viability. In summary, the application of non- and semi-parametric analyses provides appropriate, powerful data analysis procedures to address various topics in seed biology and more widespread use is encouraged.

  10. SOPIE: an R package for the non-parametric estimation of the off-pulse interval of a pulsar light curve

    Science.gov (United States)

    Schutte, Willem D.; Swanepoel, Jan W. H.

    2016-09-01

    An automated tool to derive the off-pulse interval of a light curve originating from a pulsar is needed. First, we derive a powerful and accurate non-parametric sequential estimation technique to estimate the off-pulse interval of a pulsar light curve in an objective manner. This is in contrast to the subjective `eye-ball' (visual) technique, and complementary to the Bayesian Block method which is currently used in the literature. The second aim involves the development of a statistical package, necessary for the implementation of our new estimation technique. We develop a statistical procedure to estimate the off-pulse interval in the presence of noise. It is based on a sequential application of p-values obtained from goodness-of-fit tests for uniformity. The Kolmogorov-Smirnov, Cramér-von Mises, Anderson-Darling and Rayleigh test statistics are applied. The details of the newly developed statistical package SOPIE (Sequential Off-Pulse Interval Estimation) are discussed. The developed estimation procedure is applied to simulated and real pulsar data. Finally, the SOPIE estimated off-pulse intervals of two pulsars are compared to the estimates obtained with the Bayesian Block method and yield very satisfactory results. We provide the code to implement the SOPIE package, which is publicly available at http://CRAN.R-project.org/package=SOPIE (Schutte).

  11. Non parametric deprojection of NIKA SZ observations: pressure distribution in the Planck-discovered cluster PSZ1 G045.85+57.71

    CERN Document Server

    Ruppin, F; Comis, B; Ade, P; André, P; Arnaud, M; Beelen, A; Benoît, A; Bideaud, A; Billot, N; Bourrion, O; Calvo, M; Catalano, A; Coiffard, G; D'Addabbo, A; De Petris, M; Désert, F -X; Doyle, S; Goupy, J; Kramer, C; Leclercq, S; Macías-Pérez, J F; Mauskopf, P; Mayet, F; Monfardini, A; Pajot, F; Pascale, E; Perotto, L; Pisano, G; Pointecouteau, E; Ponthieu, N; Pratt, G W; Revéret, V; Ritacco, A; Rodriguez, L; Romero, C; Schuster, K; Sievers, A; Triqueneaux, S; Tucker, C; Zylka, R

    2016-01-01

    The determination of the thermodynamic properties of clusters of galaxies at intermediate and high redshift can bring new insights into the formation of large scale structures. It is essential for a robust calibration of the mass-observable scaling relations and their scatter, which are key ingredients for precise cosmology using cluster statistics. Here we illustrate an application of high-resolution $(< 20$ arcsec) thermal Sunyaev-Zel'dovich (tSZ) observations by probing the intracluster medium (ICM) of the Planck-discovered galaxy cluster PSZ1 G045.85+57.71 at redshift $z = 0.61$, using tSZ data obtained with the NIKA camera, a dual-band (150 and 260~GHz) instrument operated at the IRAM 30-meter telescope. We deproject jointly NIKA and Planck data to extract the electronic pressure distribution non-parametrically from the cluster core ($R \\sim 0.02\\, R_{500}$) to its outskirts ($R \\sim 3\\, R_{500}$), for the first time at intermediate redshift. The constraints on the resulting pressure profile allow us ...

  12. Non-parametric study of the evolution of the cosmological equation of state with SNeIa, BAO and high redshift GRBs

    CERN Document Server

    Postnikov, Sergey; Hernandez, Xavier; Capozziello, Salvatore

    2014-01-01

    We study the dark energy equation of state as a function of redshift in a non-parametric way, without imposing any {\\it a priori} $w(z)$ (ratio of pressure over energy density) functional form. As a check of the method, we test our scheme through the use of synthetic data sets produced from different input cosmological models which have the same relative errors and redshift distribution as the real data. Using the luminosity-time $L_{X}-T_{a}$ correlation for GRB X-ray afterglows (the Dainotti et al. correlation), we are able to utilize GRB sample from the {\\it Swift} satellite as probes of the expansion history of the Universe out to $z \\approx 10$. Within the assumption of a flat FLRW universe and combining SNeIa data with BAO constraints, the resulting maximum likelihood solutions are close to a constant $w=-1$. If one imposes the restriction of a constant $w$, we obtain $w=-0.99 \\pm 0.06$ (consistent with a cosmological constant) with the present day Hubble constant as $H_{0}=70.0 \\pm 0.6$ ${\\rm km} \\, {\\...

  13. A simple 2D non-parametric resampling statistical approach to assess confidence in species identification in DNA barcoding--an alternative to likelihood and bayesian approaches.

    Science.gov (United States)

    Jin, Qian; He, Li-Jun; Zhang, Ai-Bing

    2012-01-01

    In the recent worldwide campaign for the global biodiversity inventory via DNA barcoding, a simple and easily used measure of confidence for assigning sequences to species in DNA barcoding has not been established so far, although the likelihood ratio test and the bayesian approach had been proposed to address this issue from a statistical point of view. The TDR (Two Dimensional non-parametric Resampling) measure newly proposed in this study offers users a simple and easy approach to evaluate the confidence of species membership in DNA barcoding projects. We assessed the validity and robustness of the TDR approach using datasets simulated under coalescent models, and an empirical dataset, and found that TDR measure is very robust in assessing species membership of DNA barcoding. In contrast to the likelihood ratio test and bayesian approach, the TDR method stands out due to simplicity in both concepts and calculations, with little in the way of restrictive population genetic assumptions. To implement this approach we have developed a computer program package (TDR1.0beta) freely available from ftp://202.204.209.200/education/video/TDR1.0beta.rar.

  14. Application of non-parametric bootstrap methods to estimate confidence intervals for QTL location in a beef cattle QTL experimental population.

    Science.gov (United States)

    Jongjoo, Kim; Davis, Scott K; Taylor, Jeremy F

    2002-06-01

    Empirical confidence intervals (CIs) for the estimated quantitative trait locus (QTL) location from selective and non-selective non-parametric bootstrap resampling methods were compared for a genome scan involving an Angus x Brahman reciprocal fullsib backcross population. Genetic maps, based on 357 microsatellite markers, were constructed for 29 chromosomes using CRI-MAP V2.4. Twelve growth, carcass composition and beef quality traits (n = 527-602) were analysed to detect QTLs utilizing (composite) interval mapping approaches. CIs were investigated for 28 likelihood ratio test statistic (LRT) profiles for the one QTL per chromosome model. The CIs from the non-selective bootstrap method were largest (87 7 cM average or 79-2% coverage of test chromosomes). The Selective II procedure produced the smallest CI size (42.3 cM average). However, CI sizes from the Selective II procedure were more variable than those produced by the two LOD drop method. CI ranges from the Selective II procedure were also asymmetrical (relative to the most likely QTL position) due to the bias caused by the tendency for the estimated QTL position to be at a marker position in the bootstrap samples and due to monotonicity and asymmetry of the LRT curve in the original sample.

  15. Microsatellite isolation and marker development in carrot - genomic distribution, linkage mapping, genetic diversity analysis and marker transferability across Apiaceae

    Directory of Open Access Journals (Sweden)

    Yildiz Mehtap

    2011-08-01

    Full Text Available Abstract Background The Apiaceae family includes several vegetable and spice crop species among which carrot is the most economically important member, with ~21 million tons produced yearly worldwide. Despite its importance, molecular resources in this species are relatively underdeveloped. The availability of informative, polymorphic, and robust PCR-based markers, such as microsatellites (or SSRs, will facilitate genetics and breeding of carrot and other Apiaceae, including integration of linkage maps, tagging of phenotypic traits and assisting positional gene cloning. Thus, with the purpose of isolating carrot microsatellites, two different strategies were used; a hybridization-based library enrichment for SSRs, and bioinformatic mining of SSRs in BAC-end sequence and EST sequence databases. This work reports on the development of 300 carrot SSR markers and their characterization at various levels. Results Evaluation of microsatellites isolated from both DNA sources in subsets of 7 carrot F2 mapping populations revealed that SSRs from the hybridization-based method were longer, had more repeat units and were more polymorphic than SSRs isolated by sequence search. Overall, 196 SSRs (65.1% were polymorphic in at least one mapping population, and the percentage of polymophic SSRs across F2 populations ranged from 17.8 to 24.7. Polymorphic markers in one family were evaluated in the entire F2, allowing the genetic mapping of 55 SSRs (38 codominant onto the carrot reference map. The SSR loci were distributed throughout all 9 carrot linkage groups (LGs, with 2 to 9 SSRs/LG. In addition, SSR evaluations in carrot-related taxa indicated that a significant fraction of the carrot SSRs transfer successfully across Apiaceae, with heterologous amplification success rate decreasing with the target-species evolutionary distance from carrot. SSR diversity evaluated in a collection of 65 D. carota accessions revealed a high level of polymorphism for these

  16. An estimating function approach to linkage heterogeneity

    Indian Academy of Sciences (India)

    He Gao; Ying Zhou; Weijun Ma; Haidong Liu; Linan Zhao

    2013-12-01

    Testing linkage heterogeneity between two loci is an important issue in genetics. Currently, there are four methods (K-test, A-test, B-test and D-test) for testing linkage heterogeneity in linkage analysis, which are based on the likelihood-ratio test. Among them, the commonly used methods are the K-test and A-test. In this paper, we present a novel test method which is different from the above four tests, called G-test. The new test statistic is based on estimating function, possessing a theoretic asymptotic distribution, and therefore demonstrates its own advantages. The proposed test is applied to analyse a real pedigree dataset. Our simulation results also indicate that the G-test performs well in terms of power of testing linkage heterogeneity and outperforms the current methods to some degree.

  17. Construction of a genetic linkage map of Thlaspi caerulescens and quantitative trait loci analysis of zinc accumulation.

    Science.gov (United States)

    Assunção, Ana G L; Pieper, Bjorn; Vromans, Jaap; Lindhout, Pim; Aarts, Mark G M; Schat, Henk

    2006-01-01

    Zinc (Zn) hyperaccumulation seems to be a constitutive species-level trait in Thlaspi caerulescens. When compared under conditions of equal Zn availability, considerable variation in the degree of hyperaccumulation is observed among accessions originating from different soil types. This variation offers an excellent opportunity for further dissection of the genetics of this trait. A T. caerulescens intraspecific cross was made between a plant from a nonmetallicolous accession [Lellingen (LE)], characterized by relatively high Zn accumulation, and a plant from a calamine accession [La Calamine (LC)], characterized by relatively low Zn accumulation. Zinc accumulation in roots and shoots segregated in the F3 population. This population was used to construct an LE/LC amplified fragment length polymorphism (AFLP)-based genetic linkage map and to map quantitative trait loci (QTL) for Zn accumulation. Two QTL were identified for root Zn accumulation, with the trait-enhancing alleles being derived from each of the parents, and explaining 21.7 and 16.6% of the phenotypic variation observed in the mapping population. Future development of more markers, based on Arabidopsis orthologous genes localized in the QTL regions, will allow fine-mapping and map-based cloning of the genes underlying the QTL.

  18. A Unified Discussion on the Concept of Score Functions Used in the Context of Nonparametric Linkage Analysis

    Directory of Open Access Journals (Sweden)

    Lars Ängquist

    2008-01-01

    Full Text Available In this article we try to discuss nonparametric linkage (NPL score functions within a broad and quite general framework. The main focus of the paper is the structure, derivation principles and interpretations of the score function entity itself. We define and discuss several families of one-locus score function definitions, i.e. the implicit, explicit and optimal ones. Some generalizations and comments to the two-locus, unconditional and conditional, cases are included as well. Although this article mainly aims at serving as an overview, where the concept of score functions are put into a covering context, we generalize the noncentrality parameter (NCP optimal score functions in Ängquist et al. (2007 to facilitate—through weighting—for incorporation of several plausible distinct genetic models. Since the genetic model itself most oftenly is to some extent unknown this facilitates weaker prior assumptions with respect to plausible true disease models without loosing the property of NCP-optimality. Moreover, we discuss general assumptions and properties of score functions in the above sense. For instance, the concept of identical by descent (IBD sharing structures and score function equivalence are discussed in some detail.

  19. Automation of High-Throughput Mass Spectrometry-Based Plasma N-Glycome Analysis with Linkage-Specific Sialic Acid Esterification.

    Science.gov (United States)

    Bladergroen, Marco R; Reiding, Karli R; Hipgrave Ederveen, Agnes L; Vreeker, Gerda C M; Clerc, Florent; Holst, Stephanie; Bondt, Albert; Wuhrer, Manfred; van der Burgt, Yuri E M

    2015-09-04

    Glycosylation is a post-translational modification of key importance with heterogeneous structural characteristics. Previously, we have developed a robust, high-throughput MALDI-TOF-MS method for the comprehensive profiling of human plasma N-glycans. In this approach, sialic acid residues are derivatized with linkage-specificity, namely the ethylation of α2,6-linked sialic acid residues with parallel lactone formation of α2,3-linked sialic acids. In the current study, this procedure was used as a starting point for the automation of all steps on a liquid-handling robot system. This resulted in a time-efficient and fully standardized procedure with throughput times of 2.5 h for a first set of 96 samples and approximately 1 h extra for each additional sample plate. The mass analysis of the thus-obtained glycans was highly reproducible in terms of relative quantification, with improved interday repeatability as compared to that of manual processing.

  20. Linkage between passenger demand and surrounding land-use patterns at urban rail transit stations: A canonical correlation analysis method and case study in Chongqing

    Directory of Open Access Journals (Sweden)

    Xin Li

    2016-08-01

    Full Text Available This paper employs a canonical correlation analysis method to quantify the linkage between urban rail transit station demand and the surrounding land-use patterns. It is used to identify key land use variables by evaluating their degrees of contribution to the rail transit station demand. A full month of IC card data and detailed regulatory land use plan from Chongqing, China are collected for model development and validation. The proposed model contributes to offering the capability of targeting key land use patterns and associating them with rail transit station boarding and alighting demand simultaneously. The proposed model can reveal underlying rules between rail transit station demand and land use variables and can be used to evaluate the Transit Oriented Development (TOD plans to improve land use and transit operational efficiency.

  1. Interactive Record Linkage

    Directory of Open Access Journals (Sweden)

    2000-12-01

    Full Text Available In order to carry out demographic analyses at individual and group levels, a manual method of linking individual event records from parish registers was developed in the late 1950s. In order to save time and to work with larger areas than small parishes, systems for automatic record linkage were developed a couple of decades later. A third method, an interactive record linkage, named Demolink, has been developed even more recently. The main new feature of the method is the possibility of linking from more than two historical sources simultaneously. This improves the process of sorting out which events belong to which individual life courses. This paper discusses how Demolink was used for record linkage in a large Norwegian parish for the period 1801-1878.

  2. A consensus microsatellite-based linkage map for the hermaphroditic bay scallop (Argopecten irradians and its application in size-related QTL analysis.

    Directory of Open Access Journals (Sweden)

    Hongjun Li

    Full Text Available Bay scallop (Argopecten irradians is one of the most economically important aquaculture species in China. In this study, we constructed a consensus microsatellite-based genetic linkage map with a mapping panel containing two hybrid backcross-like families involving two subspecies of bay scallop, A. i. irradians and A. i. concentricus. One hundred sixty-one microsatellite and one phenotypic (shell color markers were mapped to 16 linkage groups (LGs, which corresponds to the haploid chromosome number of bay scallop. The sex-specific map was 779.2 cM and 781.6 cM long in female and male, respectively, whereas the sex-averaged map spanned 849.3 cM. The average resolution of integrated map was 5.9 cM/locus and the estimated coverage was 81.3%. The proportion of distorted markers occurred more in the hybrid parents, suggesting that the segregation distortion was possibly resulted from heterospecific interaction between genomes of two subspecies of bay scallop. The overall female-to-male recombination rate was 1.13:1 across all linked markers in common to both parents, and considerable differences in recombination also existed among different parents in both families. Four size-related traits, including shell length (SL, shell height (SH, shell width (SW and total weight (TW were measured for quantitative trait loci (QTL analysis. Three significant and six suggestive QTL were detected on five LGs. Among the three significant QTL, two (qSW-10 and qTW-10, controlling SW and TW, respectively were mapped on the same region near marker AiAD121 on LG10 and explained 20.5% and 27.7% of the phenotypic variance, while the third (qSH-7, controlling SH was located on LG7 and accounted for 15.8% of the phenotypic variance. Six suggestive QTL were detected on four different LGs. The linkage map and size-related QTL obtained in this study may facilitate marker-assisted selection (MAS in bay scallop.

  3. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham study

    Science.gov (United States)

    Seshadri, Sudha; DeStefano, Anita L; Au, Rhoda; Massaro, Joseph M; Beiser, Alexa S; Kelly-Hayes, Margaret; Kase, Carlos S; D'Agostino, Ralph B; DeCarli, Charles; Atwood, Larry D; Wolf, Philip A

    2007-01-01

    Background Brain magnetic resonance imaging (MRI) and cognitive tests can identify heritable endophenotypes associated with an increased risk of developing stroke, dementia and Alzheimer's disease (AD). We conducted a genome-wide association (GWA) and linkage analysis exploring the genetic basis of these endophenotypes in a community-based sample. Methods A total of 705 stroke- and dementia-free Framingham participants (age 62 +9 yrs, 50% male) who underwent volumetric brain MRI and cognitive testing (1999–2002) were genotyped. We used linear models adjusting for first degree relationships via generalized estimating equations (GEE) and family based association tests (FBAT) in additive models to relate qualifying single nucleotide polymorphisms (SNPs, 70,987 autosomal on Affymetrix 100K Human Gene Chip with minor allele frequency ≥ 0.10, genotypic call rate ≥ 0.80, and Hardy-Weinberg equilibrium p-value ≥ 0.001) to multivariable-adjusted residuals of 9 MRI measures including total cerebral brain (TCBV), lobar, ventricular and white matter hyperintensity (WMH) volumes, and 6 cognitive factors/tests assessing verbal and visuospatial memory, visual scanning and motor speed, reading, abstract reasoning and naming. We determined multipoint identity-by-descent utilizing 10,592 informative SNPs and 613 short tandem repeats and used variance component analyses to compute LOD scores. Results The strongest gene-phenotype association in FBAT analyses was between SORL1 (rs1131497; p = 3.2 × 10-6) and abstract reasoning, and in GEE analyses between CDH4 (rs1970546; p = 3.7 × 10-8) and TCBV. SORL1 plays a role in amyloid precursor protein processing and has been associated with the risk of AD. Among the 50 strongest associations (25 each by GEE and FBAT) were other biologically interesting genes. Polymorphisms within 28 of 163 candidate genes for stroke, AD and memory impairment were associated with the endophenotypes studied at p < 0.001. We confirmed our previously

  4. A Linkage Learning Genetic Algorithm with Linkage Matrix

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    The goal of linkage learning, or building block identification, is the creation of a more effective Genetic Algorithm (GA). This paper proposes a new Linkage Learning Genetic Algorithms, named m-LLGA. With the linkage learning module and the linkage-based genetic operation, m-LLGA is not only able to learn and record the linkage information among genes without any prior knowledge of the function being optimized. It also can use the linkage information stored in the linkage matrix to guide the selection of crossover point. The preliminary experiments on two kinds of bounded difficulty problems and a TSP problem validated the performance of m-LLGA. The m-LLGA learns the linkage of different building blocks parallel and therefore solves these problems effectively; it can also reasonably reduce the probability of building blocks being disrupted by crossover at the same time give attention to getting away from local minimum.

  5. Genome-wide linkage analysis of QTL for growth and body composition employing the PorcineSNP60 BeadChip

    Directory of Open Access Journals (Sweden)

    Fernández Ana I

    2012-05-01

    Full Text Available Abstract Background The traditional strategy to map QTL is to use linkage analysis employing a limited number of markers. These analyses report wide QTL confidence intervals, making very difficult to identify the gene and polymorphisms underlying the QTL effects. The arrival of genome-wide panels of SNPs makes available thousands of markers increasing the information content and therefore the likelihood of detecting and fine mapping QTL regions. The aims of the current study are to confirm previous QTL regions for growth and body composition traits in different generations of an Iberian x Landrace intercross (IBMAP and especially identify new ones with narrow confidence intervals by employing the PorcineSNP60 BeadChip in linkage analyses. Results Three generations (F3, Backcross 1 and Backcross 2 of the IBMAP and their related animals were genotyped with PorcineSNP60 BeadChip. A total of 8,417 SNPs equidistantly distributed across autosomes were selected after filtering by quality, position and frequency to perform the QTL scan. The joint and separate analyses of the different IBMAP generations allowed confirming QTL regions previously identified in chromosomes 4 and 6 as well as new ones mainly for backfat thickness in chromosomes 4, 5, 11, 14 and 17 and shoulder weight in chromosomes 1, 2, 9 and 13; and many other to the chromosome-wide signification level. In addition, most of the detected QTLs displayed narrow confidence intervals, making easier the selection of positional candidate genes. Conclusions The use of higher density of markers has allowed to confirm results obtained in previous QTL scans carried out with microsatellites. Moreover several new QTL regions have been now identified in regions probably not covered by markers in previous scans, most of these QTLs displayed narrow confidence intervals. Finally, prominent putative biological and positional candidate genes underlying those QTL effects are listed based on recent porcine

  6. Cosmopolitan linkage disequilibrium maps

    Directory of Open Access Journals (Sweden)

    Gibson Jane

    2005-03-01

    Full Text Available Abstract Linkage maps have been invaluable for the positional cloning of many genes involved in severe human diseases. Standard genetic linkage maps have been constructed for this purpose from the Centre d'Etude du Polymorphisme Humain and other panels, and have been widely used. Now that attention has shifted towards identifying genes predisposing to common disorders using linkage disequilibrium (LD and maps of single nucleotide polymorphisms (SNPs, it is of interest to consider a standard LD map which is somewhat analogous to the corresponding map for linkage. We have constructed and evaluated a cosmopolitan LD map by combining samples from a small number of populations using published data from a 10-megabase region on chromosome 20. In support of a pilot study, which examined a number of small genomic regions with a lower density of markers, we have found that a cosmopolitan map, which serves all populations when appropriately scaled, recovers 91 to 95 per cent of the information within population-specific maps. Recombination hot spots appear to have a dominant role in shaping patterns of LD. The success of the cosmopolitan map might be attributed to the co-localisation of hot spots in all populations. Although there must be finer scale differences between populations due to other processes (mutation, drift, selection, the results suggest that a whole-genome standard LD map would indeed be a useful resource for disease gene mapping.

  7. Non-parametric linear regression of discrete Fourier transform convoluted chromatographic peak responses under non-ideal conditions of internal standard method.

    Science.gov (United States)

    Korany, Mohamed A; Maher, Hadir M; Galal, Shereen M; Fahmy, Ossama T; Ragab, Marwa A A

    2010-11-15

    This manuscript discusses the application of chemometrics to the handling of HPLC response data using the internal standard method (ISM). This was performed on a model mixture containing terbutaline sulphate, guaiphenesin, bromhexine HCl, sodium benzoate and propylparaben as an internal standard. Derivative treatment of chromatographic response data of analyte and internal standard was followed by convolution of the resulting derivative curves using 8-points sin x(i) polynomials (discrete Fourier functions). The response of each analyte signal, its corresponding derivative and convoluted derivative data were divided by that of the internal standard to obtain the corresponding ratio data. This was found beneficial in eliminating different types of interferences. It was successfully applied to handle some of the most common chromatographic problems and non-ideal conditions, namely: overlapping chromatographic peaks and very low analyte concentrations. For example, a significant change in the correlation coefficient of sodium benzoate, in case of overlapping peaks, went from 0.9975 to 0.9998 on applying normal conventional peak area and first derivative under Fourier functions methods, respectively. Also a significant improvement in the precision and accuracy for the determination of synthetic mixtures and dosage forms in non-ideal cases was achieved. For example, in the case of overlapping peaks guaiphenesin mean recovery% and RSD% went from 91.57, 9.83 to 100.04, 0.78 on applying normal conventional peak area and first derivative under Fourier functions methods, respectively. This work also compares the application of Theil's method, a non-parametric regression method, in handling the response ratio data, with the least squares parametric regression method, which is considered the de facto standard method used for regression. Theil's method was found to be superior to the method of least squares as it assumes that errors could occur in both x- and y-directions and

  8. Improving Department of Defense Global Distribution Performance Through Network Analysis

    Science.gov (United States)

    2016-06-01

    consideration given the origin. The new method includes the origin information. Using parametric and non- parametric statistical tests and data analysis...Using parametric and non- parametric statistical tests and data analysis techniques, we show that the addition of requisition origin information...apply a weighting scale to those elements. Kunadhamrak and Hanaoka constructed a multi-criteria metric using a combination of a fuzzy- 12

  9. Adaptive Linkage Disequilibrium Between Two Esterase Loci of a Salamander

    Science.gov (United States)

    Webster, T. Preston

    1973-01-01

    In some populations of the salamander Plethodon cinereus, two polymorphic esterase loci are in linkage disequilibrium. Short-term stability of the linkage disequilibrium is demonstrated by an age class analysis. Long, perhaps very long, term stability is suggested by its distribution. This stability and concordant geographic variation in allelic frequencies imply selective origin and maintenance. Data on the frequencies of two color morphs suggest that formation of the linkage disequilibrium is dependent on the genetic background. Images PMID:4515614

  10. From Enclave to Linkage Economies?

    DEFF Research Database (Denmark)

    Hansen, Michael W.

    and local enterprises by themselves will indeed produce linkages, the scope, depth and development impacts of linkages eventually depend on government intervention. Resource-rich African countries’ governments are aware of this and linkage promotion is increasingly becoming a key element...

  11. A Turkish family with Ellis-van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366).

    Science.gov (United States)

    Cağdaş, D N; Parlar, A I; Pac, A; Tutun, U; Balci, S

    2008-01-01

    We present a Turkish family and their 6 children, consecutively affected by Ellis-van Creveld (EVC) Syndrome. Four of the affected children died in the postnatal period, and 2 of them had been admitted to the pediatric cardiology department for their cardiologic evaluation. Since they had the features of the EVC Syndrome, linkage analysis was performed with the polymorphic markers, D4S3360-D4S2366, selected from 4p 16 locus. There was complete segregation between the disease and marker allels and the two affected siblings were homozygote for the polymorphic markers, as expected in autosomal recessive inheritance. The diagnosis of EVC Syndrome was confirmed by this molecular analysis. Two cases with EVC were presented in this report. Case 1 had partial abnormal pulmonary venous return and pulmonary stenosis additional to ostium primum atrial septal defect and mitral cleft. Partial abnormal pulmonary venous return and pulmonary stenosis were previously not reported with EVC Syndrome. Postaxial polydactyly phenotype of the Case 2 differs from her brother's. There is bifid 5th metacarpal and unilateral (L) bifid middle and distal phalanges resembling syndactyly.

  12. Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis

    Energy Technology Data Exchange (ETDEWEB)

    Radhakrishna, U.; Mehenni, H.; Antonarakis, S.E. [Geneva Medical School (Switzerland)] [and others

    1997-03-01

    Postaxial polydactyly type-A (PAP-A) in humans is an autosomal dominant trait characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is well formed and articulates with the fifth, or extra, metacarpal/metatarsal, and thus it is usually functional. In order to map the gene responsible for PAP-A, we studied a five-generation Indian family of 37 individuals (15 of whom were affected). A genomewide search with highly informative polymorphic markers on part of the pedigree showed linkage between the PAP-A phenotype and markers on chromosome 7p15-q11.23 (no crossovers were found with D7S526, D7S795, D7S528, D7S521, D7S691, D7S667, D7S478, D7S1830, D7S803, D7S801, or ELN). The highest LOD score was obtained with marker D7S801 (Z{sub max} = 4.21; {theta} = 0). Haplotype analysis enabled the mapping of the PAP-A phenotype in this family between markers D7S2848 and D7S669. Analysis of additional families with PAP-A will narrow down the critical genomic region, facilitate positional cloning of the PAP-A gene, and/or uncover potential genetic heterogeneity. 42 refs., 4 figs., 1 tab.

  13. AN ANALYSIS ON LARGE-SCALE AIR-SEA INTERACTIVE LINKAGES BETWEEN THE TROPICAL INDIAN OCEAN AND THE PACIFIC OCEAN DURING ENSO EVENTS

    Institute of Scientific and Technical Information of China (English)

    DENG Bei-sheng; LIU Hai-tao; CHOU Ji-fan

    2010-01-01

    By utilizing a 3-D atmospheric circulation resolving method, the authors studied the air-sea interactive linkages between the tropical Indian Ocean and the Pacific Ocean in 1979-2008 El Nino-Southern Oscillation (ENSO) events. Their findings showed that evident 3-D gear-coupling characteristics existed in the 1979-2008 ENSO events. Their resolving analyses also suggested that the general circulation showed stronger and wider sinking motions over the eastern Indian Ocean-western Pacific during the mature phase of 1979-2008 ENSO events, compared with the vertical velocities from the U.S. National Centers for Enviornmental Prediction (NCEP) reanalysis data. With their 3-D analysis method, the vertical velocity was resolved by two components, i.e. zonal and meridional components. It was found that the zonal component of the vertical velocities showed a strong sinking motion while the meridional components showed an upward motion during the prevailing phases of the ENSO events,In the tropics, the zonal component of the vertical velocities was found greater than the meridional component, reflecting the dominant characteristics of the vertical velocity, and the overall outcomes showed a strong sinking motion, although the two components also partially offset each other in the processes. Compared with the vertical velocities from NCEP reanalysis, the vertical motions calculated with the 3-D resolving analysis method demonstrate some advantages.

  14. CURRENCY LINKAGES AMONG ASEAN

    OpenAIRE

    CHIN LEE; M. Azali

    2010-01-01

    The purpose of this study is to examine the potential linkages among ASEAN-5 currencies, in particular the possibility of a Singapore dollar bloc during the pre- and post-crisis periods by using the Johansen multivariate cointegration test and the Granger causality test. Significant nonstationarity and the presence of unit roots were documented for each currency under both study periods. Using ASEAN-4 exchange rates against the Singapore dollar, the Johansen cointegration test showed that the...

  15. Multivariate analysis of anxiety disorders yields further evidence of linkage to chromosomes 4q21, and 7p in panic disorder families

    Science.gov (United States)

    Logue, M.W.; Bauver, S.R.; Knowles, J.A.; Gameroff, M.J.; Weissman, M.M.; Crowe, R.R.; Fyer, A.J.; Hamilton, S.P.

    2012-01-01

    Replication has been difficult to achieve in linkage studies of psychiatric disease. Linkage studies of panic disorder have indicated regions of interest on chromosomes 1q, 2p, 2q, 3, 7, 9, 11, 12q13, 12q23, and 15. Few regions have been implicated in more than one study. We examine two samples, the Iowa and the Columba panic disorder families. We use the fuzzy clustering method presented by Kaabi et al. (2006) to summarize liability to panic disorder, agoraphobia, simple phobia, and social phobia. Kaabi et al. applied this method to the Yale panic disorder linkage families and found evidence of linkage to chromosomes 4q21, 4q32, 7p, and 8. When we apply the same method to the Iowa families, we obtain overlapping evidence of linkage to chromosomes 4q21 and 7p. Additionally, we find evidence of linkage on chromosomes 1, 5, 6, 16, and 22. The Columbia data does not indicate linkage to any of the Kaabi et al. peaks, instead implicating chromosomes 2 and 22q11 (2 Mb from COMT). There is some evidence of overlapping linkage between the Iowa and Columbia datasets on chromosomes 1 and 14. While use of fuzzy clustering has not produced complete concordance across datasets, it has produced more than previously seen in analyses of panic disorder proper. We conclude that chromosomes 4q21 and 7p should be considered strong candidate regions for panic and fear-associated anxiety disorder loci. More generally, this suggests that analyses including multiple aspects of psychopathology may lead to greater consistency across datasets. PMID:22253211

  16. Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

    Directory of Open Access Journals (Sweden)

    Gonzalez-Neira Anna

    2007-08-01

    Full Text Available Abstract Background The recent development of new high-throughput technologies for SNP genotyping has opened the possibility of taking a genome-wide linkage approach to the search for new candidate genes involved in heredity diseases. The two major breast cancer susceptibility genes BRCA1 and BRCA2 are involved in 30% of hereditary breast cancer cases, but the discovery of additional breast cancer predisposition genes for the non-BRCA1/2 breast cancer families has so far been unsuccessful. Results In order to evaluate the power improvement provided by using SNP markers in a real situation, we have performed a whole genome screen of 19 non-BRCA1/2 breast cancer families using 4720 genomewide SNPs with Illumina technology (Illumina's Linkage III Panel, with an average distance of 615 Kb/SNP. We identified six regions on chromosomes 2, 3, 4, 7, 11 and 14 as candidates to contain genes involved in breast cancer susceptibility, and additional fine mapping genotyping using microsatellite markers around linkage peaks confirmed five of them, excluding the region on chromosome 3. These results were consistent in analyses that excluded SNPs in high linkage disequilibrium. The results were compared with those obtained previously using a 10 cM microsatellite scan (STR-GWS and we found lower or not significant linkage signals with STR-GWS data compared to SNP data in all cases. Conclusion Our results show the power increase that SNPs can supply in linkage studies.

  17. Genome-wide linkage analysis of longitudinal phenotypes using sigma(2)(A) random effects (SSARs) fitted by Gibbs sampling

    NARCIS (Netherlands)

    Palmer, LJ; Scurrah, KJ; Tobin, M; Patel, [No Value; Celedon, JC; Burton, PR; Weiss, ST

    2003-01-01

    The study of change in intermediate phenotypes over time is important in genetics. In this paper we explore a new approach to phenotype definition in the genetic analysis of longitudinal phenotypes. We utilized data from the longitudinal Framingham Heart Study Family Cohort to investigate the famili

  18. Improved linkage analysis of Quantitative Trait Loci using bulk segregants unveils a novel determinant of high ethanol tolerance in yeast

    NARCIS (Netherlands)

    Duitama, Jorge; Sánchez-Rodríguez, Aminael; Goovaerts, Annelies; Pulido-Tamayo, Sergio; Hubmann, Georg; Foulquié-Moreno, María R.; Thevelein, Johan M.; Verstrepen, Kevin J.; Marchal, Kathleen

    2014-01-01

    Background: Bulk segregant analysis (BSA) coupled to high throughput sequencing is a powerful method to map genomic regions related with phenotypes of interest. It relies on crossing two parents, one inferior and one superior for a trait of interest. Segregants displaying the trait of the superior p

  19. A non-parametric method for automatic determination of P-wave and S-wave arrival times: application to local micro earthquakes

    Science.gov (United States)

    Rawles, Christopher; Thurber, Clifford

    2015-08-01

    We present a simple, fast, and robust method for automatic detection of P- and S-wave arrivals using a nearest neighbours-based approach. The nearest neighbour algorithm is one of the most popular time-series classification methods in the data mining community and has been applied to time-series problems in many different domains. Specifically, our method is based on the non-parametric time-series classification method developed by Nikolov. Instead of building a model by estimating parameters from the data, the method uses the data itself to define the model. Potential phase arrivals are identified based on their similarity to a set of reference data consisting of positive and negative sets, where the positive set contains examples of analyst identified P- or S-wave onsets and the negative set contains examples that do not contain P waves or S waves. Similarity is defined as the square of the Euclidean distance between vectors representing the scaled absolute values of the amplitudes of the observed signal and a given reference example in time windows of the same length. For both P waves and S waves, a single pass is done through the bandpassed data, producing a score function defined as the ratio of the sum of similarity to positive examples over the sum of similarity to negative examples for each window. A phase arrival is chosen as the centre position of the window that maximizes the score function. The method is tested on two local earthquake data sets, consisting of 98 known events from the Parkfield region in central California and 32 known events from the Alpine Fault region on the South Island of New Zealand. For P-wave picks, using a reference set containing two picks from the Parkfield data set, 98 per cent of Parkfield and 94 per cent of Alpine Fault picks are determined within 0.1 s of the analyst pick. For S-wave picks, 94 per cent and 91 per cent of picks are determined within 0.2 s of the analyst picks for the Parkfield and Alpine Fault data set

  20. Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations

    Directory of Open Access Journals (Sweden)

    Tzur Shay

    2012-10-01

    Full Text Available Abstract Background A recent meta-analysis described a variant (p.Ile2984Val in the cubilin gene (CUBN that is associated with levels of albuminuria in the general population and in diabetics. Methods We implemented a Linkage Disequilibrium (LD search with data from the 1000 Genomes Project, on African and European population genomic sequences. Results We found that the p.Ile2984Val variation is part of a larger haplotype in European populations and it is almost absent in west Africans. This haplotype contains 19 single nucleotide polymorphisms (SNPs in very high LD, three of which are missense mutations (p.Leu2153Phe, p.Ile2984Val, p.Glu3002Gly, and two have not been previously reported. Notably, this European haplotype is absent in west African populations, and the frequency of each individual polymorphism differs significantly in Africans. Conclusions Genotyping of these variants in existing African origin sample sets coupled to measurements of urine albumin excretion levels should reveal which is the most likely functional candidate for albuminuria risk. The unique haplotypic structure of CUBN in different populations may leverage the effort to identify the functional variant and to shed light on evolution of the CUBN gene locus.