WorldWideScience

Sample records for landmark genome scanning

  1. Application of the Restriction Landmark Genome Scanning (RLGS Method for Analysis of Genetic Diversity between Asian and African Sorghum

    Hisato Okuizumi*, Tomotsugu Noguchi, Tatsuya Saguchi,Takuma Fujita, Eri Nonaka, Shinsuke Yamanaka, Koffi Kombate, Subbarayan Sivakumar , Kulandaivelu Ganesamurthy, Yasufumi Murakami

    2010-07-01

    Full Text Available Restriction Landmark Genome Scanning (RLGS used to detect large numbers of restriction landmarks in a single experiment andapplied to analyze the genetic diversity of Asian and African sorghum accessions. This method is one of the genome analysistools based on the concept that restriction enzyme sites can serve as landmarks throughout a genome. RLGS uses direct endlabelingof the genomic DNA digested with a rare-cutting restriction enzyme and high-resolution two-dimensionalelectrophoresis. It has an advantage of providing precise information on a spot intensity that reflects the copy number ofrestriction landmarks and to visualize differences in methylation levels across the genome. RLGS becomes very useful for doingwhole genome scans that equals the work of thousands of polymerase chain reactions. A study was carried out using Sorghumaccessions collected from countries viz., Morocco, Nigeria, Sudan, South Africa, Japan, South Korea, and China. Onerepresentative sample was chosen from a country for analysis carried out at National Institute of Agrobiological Sciences(NIAS. Two dimensional spot images for seven accessions obtained and spot intensities were scanned. Totally, 119 spots weredetected of which 95 spots observed as polymorphic and 24 as non polymorphic. Unique presence and null spots werespecifically detected in all accessions taken for study. A total of 37 unique spots and 12 null spots, detected in this experiment.Principal Coordinate Analysis indicated, four African accessions scattered in the diagram were diverse and three Asianaccessions closely distributed with narrow diversity. The phylogenetic tree showed that Sudan and Nigerian accessions weredistant while Chinna, Japan and Korea accessions had close proximity

  2. The Application of Restriction Landmark Genome Scanning Method for Surveillance of Non-Mendelian Inheritance in F1 Hybrids

    Tomoko Takamiya

    2009-01-01

    Full Text Available We analyzed inheritance of DNA methylation in reciprocal F1 hybrids (subsp. japonica cv. Nipponbare × subsp. indica cv. Kasalath of rice (Oryza sativa L. using restriction landmark genome scanning (RLGS, and detected differing RLGS spots between the parents and reciprocal F1 hybrids. MspI/HpaII restriction sites in the DNA from these different spots were suspected to be heterozygously methylated in the Nipponbare parent. These spots segregated in F1 plants, but did not segregate in selfed progeny of Nipponbare, showing non-Mendelian inheritance of the methylation status. As a result of RT-PCR and sequencing, a specific allele of the gene nearest to the methylated sites was expressed in reciprocal F1 plants, showing evidence of biased allelic expression. These results show the applicability of RLGS for scanning of non-Mendelian inheritance of DNA methylation and biased allelic expression.

  3. A landmark-based method for the geometrical 3D calibration of scanning microscopes

    Ritter, M.

    2007-04-27

    This thesis presents a new strategy and a spatial method for the geometric calibration of 3D measurement devices at the micro-range, based on spatial reference structures with nanometersized landmarks (nanomarkers). The new method was successfully applied for the 3D calibration of scanning probe microscopes (SPM) and confocal laser scanning microscopes (CLSM). Moreover, the spatial method was also used for the photogrammetric self-calibration of scanning electron microscopes (SEM). In order to implement the calibration strategy to all scanning microscopes used, the landmark-based principle of reference points often applied at land survey or at close-range applications has been transferred to the nano- and micro-range in the form of nanomarker. In order to function as a support to the nanomarkers, slope-shaped step pyramids have been developed and fabricated by focused ion beam (FIB) induced metal deposition. These FIB produced 3D microstructures have been sized to embrace most of the measurement volume of the scanning microscopes. Additionally, their special design allows the homogenous distribution of the nanomarkers. The nanomarkers were applied onto the support and the plateaus of the slope-step pyramids by FIB etching (milling) as landmarks with as little as several hundreds of nanometers in diameter. The nanomarkers are either of point-, or ring-shaped design. They are optimized so that they can be spatially measured by SPM and CLSM, and, imaged and photogrammetrically analyzed on the basis of SEM data. The centre of the each nanomarker serves as reference point in the measurement data or images. By applying image processing routines, the image (2D) or object (3D) coordinates of each nanomarker has been determined with subpixel accuracy. The correlative analysis of the SPM, CLSM and photogrammetric SEM measurement data after 3D calibration resulted in mean residues in the measured coordinates of as little as 13 nm. Without the coupling factors the mean

  4. Genome-based peptide fingerprint scanning

    Giddings, Michael C.; Shah, Atul A.; Gesteland, Ray; Moore, Barry

    2002-01-01

    We have implemented a method that identifies the genomic origins of sample proteins by scanning their peptide-mass fingerprint against the theoretical translation and proteolytic digest of an entire genome. Unlike previously reported techniques, this method requires no predefined ORF or protein annotations. Fixed-size windows along the genome sequence are scored by an equation accounting for the number of matching peptides, the number of missed enzymatic cleavages in each peptide, the number ...

  5. Clinical applications of Genome Polymorphism Scans

    Weber James L

    2006-06-01

    Full Text Available Abstract Applications of Genome Polymorphism Scans range from the relatively simple such as gender determination and confirmation of biological relationships, to the relatively complex such as determination of autozygosity and propagation of genetic information throughout pedigrees. Unlike nearly all other clinical DNA tests, the Scan is a universal test – it covers all people and all genes. In balance, I argue that the Genome Polymorphism Scan is the most powerful, affordable clinical DNA test available today. Reviewers: This article was reviewed by Scott Weiss (nominated by Neil Smalheiser, Roberta Pagon (nominated by Jerzy Jurka and Val Sheffield (nominated by Neil Smalheiser.

  6. Restriction landmark cDNA scanning (RLCS): a novel cDNA display system using two-dimensional gel electrophoresis.

    Suzuki, H; Yaoi, T; Kawai, J; Hara, A; Kuwajima, G; Wantanabe, S

    1996-01-01

    We have developed a new method, designated restriction landmark cDNA scanning (RLCS), which displays many cDNA species quantitatively and simultaneously as two-dimensional gel spots. In this method cDNA species of uniform length were prepared for each mRNA species using restriction enzymes. After the restriction enzyme sites were radiolabeled as landmarks, the labeled fragments were subjected to high resolution two-dimensional gel electrophoresis. In analyses of cDNA samples from adult mouse liver and brain (cerebral cortex, cerebellum and brain stem) we detected approximately 500 and >1000 discrete gel spots respectively of various intensities at a time. The spot patterns of the three brain regions were very similar, although not identical, but were quite different from the pattern for the liver. RNA blot hybridization analysis using several cloned spot DNAs as probes showed that differences in intensity of the spots among RLCS profiles correlated well with expression levels of the corresponding mRNA species in the brain regions. Because the spots and their intensities reflect distinct mRNA species and their expression level respectively, the RLCS is a novel cDNA display system which provides a great deal of information and should be useful for systematic documentation of differentially expressed genes. PMID:8628652

  7. Electrochemical degradation of electrodeposited Pt particles on mask scratched substrate using a landmark for ex situ scanning electron microscopy

    Pt particles were deposited on a glassy carbon substrate using a landmark by a mask scratch-based Pt electrodeposition method to observe the same Pt particles by ex situ scanning electron microscopy before and after a potential cycling procedure. The potential cycling was conducted in a H2O2-containing 0.5 mol dm-3 H2SO4 solution. As a result, the Pt particle degradations are clearly observed in the solution containing 100 mmol dm-3 H2O2 in the potential range of 0.04-1.44 V vs. RHE; whereas, the degradations become more remarkable at 0.34-1.44 V vs. RHE. To clarify the reason for this potential cycling range-dependence of the Pt particle degradations, the weight change of a Pt electrode during potential cycling in the presence of H2O2 was measured using an electrochemical quartz crystal microbalance. The result suggests that the dissolved Pt is re-deposited on the Pt in ca. 0.01-0.40 V vs. RHE, which well explains the difference of the Pt particle degradations by the potential cyclings between 0.04-1.44 and 0.34-1.44 V vs. RHE.

  8. Genome-Wide Scan Reveals Mutation Associated with Melanoma

    ... 1999 Spotlight on Research 2012 July 2012 (historical) Genome-Wide Scan Reveals Mutation Associated with Melanoma A ... out to see if a technology called whole genome sequencing would help them find other genetic risk ...

  9. Adjusted P values for genome-wide scans.

    Lystig, Theodore C.

    2003-01-01

    Genome-wide scans for quantitative trait loci (QTL) have traditionally been summarized with plots of logarithm of odds (LOD) scores. A valuable modification is to supplement such plots with an additional vertical axis displaying quantiles of adjusted P values and labeling local maxima of the LOD scores with location-specific adjusted P values. This provides a visible gradation of genome-wide significance for the LOD score curve, instead of the stark dichotomy that a single threshold yields. A...

  10. A genome-wide scan for preeclampsia in the Netherlands.

    Lachmeijer, A M; Arngrímsson, R; Bastiaans, E J; Frigge, M L; Pals, G; Sigurdardóttir, S; Stéfansson, H; Pálsson, B; Nicolae, D; Kong, A; Aarnoudse, J G; Gulcher, J R; Dekker, G A; ten Kate, L P; Stéfansson, K

    2001-10-01

    Preeclampsia, hallmarked by de novo hypertension and proteinuria in pregnancy, has a familial tendency. Recently, a large Icelandic genome-wide scan provided evidence for a maternal susceptibility locus for preeclampsia on chromosome 2p13 which was confirmed by a genome scan from Australia and New Zealand (NZ). The current study reports on a genome-wide scan of Dutch affected sib-pair families. In total 67 Dutch affected sib-pair families, comprising at least two siblings with proteinuric preeclampsia, eclampsia or HELLP-syndrome, were typed for 293 polymorphic markers throughout the genome and linkage analysis was performed. The highest allele sharing lod score of 1.99 was seen on chromosome 12q at 109.5 cM. Two peaks overlapped in the same regions between the Dutch and Icelandic genome-wide scan at chromosome 3p and chromosome 15q. No overlap was seen on 2p. Re-analysis in 38 families without HELLP-syndrome (preeclampsia families) and 34 families with at least one sibling with HELLP syndrome (HELLP families), revealed two peaks with suggestive evidence for linkage in the non-HELLP families on chromosome 10q (lod score 2.38, D10S1432, 93.9 cM) and 22q (lod score 2.41, D22S685, 32.4 cM). The peak on 12q appeared to be associated with HELLP syndrome; it increased to a lod score of 2.1 in the HELLP families and almost disappeared in the preeclampsia families. A nominal peak on chromosome 11 in the preeclampsia families showed overlap with the second highest peak in the Australian/NZ study. Results from our Dutch genome-wide scan indicate that HELLP syndrome might have a different genetic background than preeclampsia. PMID:11781687

  11. Enhancer scanning to locate regulatory regions in genomic loci.

    Buckley, Melissa; Gjyshi, Anxhela; Mendoza-Fandiño, Gustavo; Baskin, Rebekah; Carvalho, Renato S; Carvalho, Marcelo A; Woods, Nicholas T; Monteiro, Alvaro N A

    2016-01-01

    This protocol provides a rapid, streamlined and scalable strategy to systematically scan genomic regions for the presence of transcriptional regulatory regions that are active in a specific cell type. It creates genomic tiles spanning a region of interest that are subsequently cloned by recombination into a luciferase reporter vector containing the simian virus 40 promoter. Tiling clones are transfected into specific cell types to test for the presence of transcriptional regulatory regions. The protocol includes testing of different single-nucleotide polymorphism (SNP) alleles to determine their effect on regulatory activity. This procedure provides a systematic framework for identifying candidate functional SNPs within a locus during functional analysis of genome-wide association studies. This protocol adapts and combines previous well-established molecular biology methods to provide a streamlined strategy, based on automated primer design and recombinational cloning, allowing one to rapidly go from a genomic locus to a set of candidate functional SNPs in 8 weeks. PMID:26658467

  12. Improved restriction landmark cDNA scanning and its application to global analysis of genes regulated by nerve growth factor in PC12 cells.

    Mayumi, K; Yaoi, T; Kawai, J; Kojima, S; Watanabe, S; Suzuki, H

    1998-07-30

    Restriction landmark cDNA scanning (RLCS) is a novel method by which more than 1000 genes can be simultaneously and quantitatively displayed as two-dimensional gel spots. Here we present an adaptation that allows an individual spot to correspond to a unique gene species without redundancy in more than two gel patterns. Using this improved RLCS, we examined global changes on the gene expression of PC12 cells before and after treatment with nerve growth factor. Among a total of 3000 spots, 21 (0.70%) and 91 (3.03%) spots newly appeared and became more intense with treatment. On the other hand, 15 (0.50%) and 44 (1.47%) spots disappeared, becoming less intense with treatment. These observations suggest that approx. 6% of the detected PC12 genes are up-(3.73%) or down-(1.97%) regulated when the cells differentiate to neuronal cells. In comparison with the results obtained using the expressed-sequence-tag approach, previously reported by Lee et al. (Proc. Natl. Acad. Sci. USA 92 (1995) 8303-8307), RLCS should be useful for quantitatively examining the global change of differentially expressed genes of various expression levels. PMID:9714711

  13. Genome-Wide Scan for Methylation Profiles in Keloids

    Lamont R. Jones

    2015-01-01

    Full Text Available Keloids are benign fibroproliferative tumors of the skin which commonly occur after injury mainly in darker skinned patients. Medical treatment is fraught with high recurrence rates mainly because of an incomplete understanding of the biological mechanisms that lead to keloids. The purpose of this project was to examine keloid pathogenesis from the epigenome perspective of DNA methylation. Genome-wide profiling used the Infinium HumanMethylation450 BeadChip to interrogate DNA from 6 fresh keloid and 6 normal skin samples from 12 anonymous donors. A 3-tiered approach was used to call out genes most differentially methylated between keloid and normal. When compared to normal, of the 685 differentially methylated CpGs at Tier 3, 510 were hypomethylated and 175 were hypermethylated with 190 CpGs in promoter and 495 in nonpromoter regions. The 190 promoter region CpGs corresponded to 152 genes: 96 (63% were hypomethylated and 56 (37% hypermethylated. This exploratory genome-wide scan of the keloid methylome highlights a predominance of hypomethylated genomic landscapes, favoring nonpromoter regions. DNA methylation, as an additional mechanism for gene regulation in keloid pathogenesis, holds potential for novel treatments that reverse deleterious epigenetic changes. As an alternative mechanism for regulating genes, epigenetics may explain why gene mutations alone do not provide definitive mechanisms for keloid formation.

  14. Genome-wide DNA methylation scan in major depressive disorder.

    Sarven Sabunciyan

    Full Text Available While genome-wide association studies are ongoing to identify sequence variation influencing susceptibility to major depressive disorder (MDD, epigenetic marks, such as DNA methylation, which can be influenced by environment, might also play a role. Here we present the first genome-wide DNA methylation (DNAm scan in MDD. We compared 39 postmortem frontal cortex MDD samples to 26 controls. DNA was hybridized to our Comprehensive High-throughput Arrays for Relative Methylation (CHARM platform, covering 3.5 million CpGs. CHARM identified 224 candidate regions with DNAm differences >10%. These regions are highly enriched for neuronal growth and development genes. Ten of 17 regions for which validation was attempted showed true DNAm differences; the greatest were in PRIMA1, with 12-15% increased DNAm in MDD (p = 0.0002-0.0003, and a concomitant decrease in gene expression. These results must be considered pilot data, however, as we could only test replication in a small number of additional brain samples (n = 16, which showed no significant difference in PRIMA1. Because PRIMA1 anchors acetylcholinesterase in neuronal membranes, decreased expression could result in decreased enzyme function and increased cholinergic transmission, consistent with a role in MDD. We observed decreased immunoreactivity for acetylcholinesterase in MDD brain with increased PRIMA1 DNAm, non-significant at p = 0.08.While we cannot draw firm conclusions about PRIMA1 DNAm in MDD, the involvement of neuronal development genes across the set showing differential methylation suggests a role for epigenetics in the illness. Further studies using limbic system brain regions might shed additional light on this role.

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

    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.

  16. Comparative analysis of whole genome structure of Streptococcus suis using whole genome PCR scanning

    2008-01-01

    An outbreak associated with Streptococcus suis infection in humans emerged in Sichuan province, China in 2005. The outbreak is atypical for the apparent large number of human cases, high fatality rate and geographical spread. To determine whether the bacterium has changed, we compared both human and animal isolates from the Sichuan outbreak with those collected previously within China and in other countries using whole genome PCR scanning (WGPScaning) comparative sequencing of several known virulence factor genes and multilocus sequence typing (MLST) analysis. WGPScanning analysis showed that all primer pairs yielded PCR products of the expected sizes in all four strains tested. The nucleotide sequences of all the detected virulence factor genes are identical in the four strains and MLST results showed that the four isolates studied and reference strain all belonged to the ST1 com-plex. No new genetic changes were found in the genome structure of the isolates from this Sichuan outbreak.

  17. Comparative analysis of whole genome structure of Streptococcus suis using whole genome PCR scanning

    2008-01-01

    An outbreak associated with Streptococcus suis infection in humans emerged in Sichuan province, China in 2005. The outbreak is atypical for the apparent large number of human cases, high fatality rate and geographical spread. To determine whether the bacterium has changed, we compared both human and animal isolates from the Sichuan outbreak with those collected previously within China and in other countries using whole genome PCR scanning (WGPScaning) comparative sequencing of several known virulence factor genes and multilocus sequence typing (MLST) analysis. WGPScanning analysis showed that all primer pairs yielded PCR products of the expected sizes in all four strains tested. The nucleotide sequences of all the detected virulence factor genes are identical in the four strains and MLST results showed that the four isolates studied and reference strain all belonged to the ST1 complex. No new genetic changes were found in the genome structure of the isolates from this Sichuan outbreak.

  18. An automated annotation tool for genomic DNA sequences using GeneScan and BLAST

    Andrew M. Lynn; Chakresh Kumar Jain; K. Kosalai; Pranjan Barman; Nupur Thakur; Harish Batra; Alok Bhattacharya

    2001-04-01

    Genomic sequence data are often available well before the annotated sequence is published. We present a method for analysis of genomic DNA to identify coding sequences using the GeneScan algorithm and characterize these resultant sequences by BLAST. The routines are used to develop a system for automated annotation of genome DNA sequences.

  19. Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis

    Levinson, Douglas F.; Levinson, Matthew D.; Segurado, Ricardo; Lewis, Cathryn M.

    2003-01-01

    This is the first of three articles on a meta-analysis of genome scans of schizophrenia (SCZ) and bipolar disorder (BPD) that uses the rank-based genome scan meta-analysis (GSMA) method. Here we used simulation to determine the power of GSMA to detect linkage and to identify thresholds of significance. We simulated replicates resembling the SCZ data set (20 scans; 1,208 pedigrees) and two BPD data sets using very narrow (9 scans; 347 pedigrees) and narrow (14 scans; 512 pedigrees) diagnoses. ...

  20. Landmarks in Hybrid Planning

    Mohamed Elkawkagy

    2013-11-01

    Full Text Available Although planning techniques achieved a significant progress during recent years, solving many planning problem still difficult even for modern planners. In this paper, we will adopt landmark concept to hybrid planning setting - a method that combines reasoning about procedural knowledge and causalities. Land-marks are a well-known concept in the realm of classical planning. Recently, they have been adapted to hierarchical approaches. Such landmarks can be extracted in a pre-processing step from a declarative hierarchical planning domain and problem description. It was shown how this technique allows for a considerable reduction of the search space by eliminating futile plan development options before the actual planning. Therefore, we will present a new approach to in¬tegrate landmark pre-processing technique in the context of hierarchical planning with landmark technique in the classical planning. This integration allows to incorporate the ability of using extracted landmark tasks from hierarchical domain knowledge in the form of HTN and using landmark literals from classical planning. To this end, we will construct a transformation technique to transform the hybrid planning domain into a classical domain model. The method¬ologies in this paper have been implemented successfully, and we will present some experimental results that give evidence for the consid-erable performance increase gained through planning system.

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

    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

    2008-12-01

    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, there has been limited replications between the various independent datasets. The current study gathered the results from all seven of the ADHD linkage scans and performed a Genome Scan Meta Analysis (GSMA) to identify the genomic region with most consistent linkage evidence across the studies. Genome-wide significant linkage (P(SR) = 0.00034, P(OR) = 0.04) was identified on chromosome 16 between 64 and 83 Mb. In addition there are nine other genomic regions from the GSMA showing nominal or suggestive evidence of linkage. All these linkage results may be informative and focus the search for novel ADHD susceptibility genes. PMID:18988193

  2. Genome scan for parent-of-origin QTL effects on bovine growth and carcass traits

    Imumorin, I.G.; Kim, B.; Li, Y.; Koning, de D.J.; Arendonk, van J.A.M.; Donato, S.

    2011-01-01

    Parent-of-origin effects (POE) such as genomic imprinting influence growth and body composition in livestock, rodents, and humans. Here, we report the results of a genome scan to detect quantitative trait loci (QTL) with POE on growth and carcass traits in Angus × Brahman cattle crossbreds. We ident

  3. Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia

    Lewis, Cathryn M.; Levinson, Douglas F.; Wise, Lesley H.; Delisi, Lynn E.; Straub, Richard E.; Hovatta, Iiris; Williams, Nigel M.; Schwab, Sibylle G.; Pulver, Ann E; Faraone, Stephen V.; Brzustowicz, Linda M.; Kaufmann, Charles A.; Garver, David L.; Gurling, Hugh M.D.; Lindholm, Eva

    2003-01-01

    Schizophrenia is a common disorder with high heritability and a 10-fold increase in risk to siblings of probands. Replication has been inconsistent for reports of significant genetic linkage. To assess evidence for linkage across studies, rank-based genome scan meta-analysis (GSMA) was applied to data from 20 schizophrenia genome scans. Each marker for each scan was assigned to 1 of 120 30-cM bins, with the bins ranked by linkage scores (1 = most significant) and the ranks averaged across stu...

  4. Genomic scans for selective sweeps using SNP data

    Nielsen, Rasmus; Williamson, Scott; Kim, Yuseob;

    2005-01-01

    Detecting selective sweeps from genomic SNP data is complicated by the intricate ascertainment schemes used to discover SNPs, and by the confounding influence of the underlying complex demographics and varying mutation and recombination rates. Current methods for detecting selective sweeps have...... little or no robustness to the demographic assumptions and varying recombination rates, and provide no method for correcting for ascertainment biases. Here, we present several new tests aimed at detecting selective sweeps from genomic SNP data. Using extensive simulations, we show that a new parametric...... test, based on composite likelihood, has a high power to detect selective sweeps and is surprisingly robust to assumptions regarding recombination rates and demography (i.e., has low Type I error). Our new test also provides estimates of the location of the selective sweep(s) and the magnitude...

  5. Ab initio gene identification: prokaryote genome annotation with GeneScan and GLIMMER

    Gautam Aggarwal; Ramakrishna Ramaswamy

    2002-02-01

    We compare the annotation of three complete genomes using the ab initio methods of gene identification GeneScan and GLIMMER. The annotation given in GenBank, the standard against which these are compared, has been made using GeneMark. We find a number of novel genes which are predicted by both methods used here, as well as a number of genes that are predicted by GeneMark, but are not identified by either of the nonconsensus methods that we have used. The three organisms studied here are all prokaryotic species with fairly compact genomes. The Fourier measure forms the basis for an efficient non-consensus method for gene prediction, and the algorithm GeneScan exploits this measure. We have bench-marked this program as well as GLIMMER using 3 complete prokaryotic genomes. An effort has also been made to study the limitations of these techniques for complete genome analysis. GeneScan and GLIMMER are of comparable accuracy insofar as gene-identification is concerned, with sensitivities and specificities typically greater than 0.9. The number of false predictions (both positive and negative) is higher for GeneScan as compared to GLIMMER, but in a significant number of cases, similar results are provided by the two techniques. This suggests that there could be some as-yet unidentified additional genes in these three genomes, and also that some of the putative identifications made hitherto might require re-evaluation. All these cases are discussed in detail.

  6. Genome scan for parent-of-origin QTL effects on bovine growth and carcass traits

    Ikhide G. Imumorin; Eun-Hee eKim; Yun-Mi eLee; Dirk-Jan eDe Koning; Johan eVan Arendonk; Marcos eDe Donato; Jeremy Francis Taylor; Jong-Joo eKim

    2011-01-01

    Parent-of-origin effects (POE) such as genomic imprinting influence growth and body composition in livestock, rodents and humans. Here, we report the results of a genome scan to detect quantitative trait loci (QTL) with POE on growth and carcass traits in Angus x Brahman cattle crossbreds. We identified 24 POE-QTL on 15 Bos taurus autosomes (BTAs) of which 6 were significant at 5% genome-wide level and 18 at the 5% chromosome-wide significance level. Six QTL were paternally expressed while 15...

  7. Genome-wide scan revealed genetic loci for energy metabolism in Hispanic children and adolescents

    Genome-wide scans were conducted in a search for genetic locations linked to energy expenditure and substrate oxidation in children. Pedigreed data of 1030 Hispanic children and adolescents were from the Viva La Familia Study, which was designed to investigate genetic and environmental risk factors ...

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

    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

  9. Genome-wide scan for visceral leishmaniasis susceptibility genes in Brazil

    Jamieson, SE; Miller, EN; Peacock, CS; Fakiola, M; Wilson, ME; Bales-Holst, A; Shaw, M-A; Silveira, F.; Shaw, JJ; Jeronimo, SM; Blackwell, JM

    2006-01-01

    A genome-wide scan was conducted for visceral leishmaniasis in Brazil. Initially, 405 markers were typed in 22 multicase pedigrees (28 nuclear families; 174 individuals; 66 affected. Nonparametric multipoint analysis detected 9 chromosomal regions with provisional evidence (LOD scores 0.95 to 1.66; 0.003​

  10. Combined genome scans for body stature in 6,602 European twins

    Perola, Markus; Sammalisto, Sampo; Hiekkalinna, Tero;

    2007-01-01

    Twin cohorts provide a unique advantage for investigations of the role of genetics and environment in the etiology of variation in common complex traits by reducing the variance due to environment, age, and cohort differences. The GenomEUtwin (http://www.genomeutwin.org) consortium consists of......) using genome-wide scans performed for 3,817 families (8,450 individuals) derived from twin cohorts from Australia, Denmark, Finland, Netherlands, Sweden, and United Kingdom with an approximate ten-centimorgan microsatellite marker map. The marker maps for different studies differed and they were....... Several cohorts contributed to the identified loci, suggesting an evolutionarily old genetic variant having effects on stature in European-based populations. To facilitate the genetic studies of stature we have also set up a website that lists all stature genome scans published and their most significant...

  11. Genome-wide scans using archived neonatal dried blood spot samples

    Wiuf Carsten

    2009-07-01

    Full Text Available Abstract Background Identification of disease susceptible genes requires access to DNA from numerous well-characterised subjects. Archived residual dried blood spot samples from national newborn screening programs may provide DNA from entire populations and medical registries the corresponding clinical information. The amount of DNA available in these samples is however rarely sufficient for reliable genome-wide scans, and whole-genome amplification may thus be necessary. This study assess the quality of DNA obtained from different amplification protocols by evaluating fidelity and robustness of the genotyping of 610,000 single nucleotide polymorphisms, using the Illumina Infinium HD Human610-Quad BeadChip. Whole-genome amplified DNA from 24 neonatal dried blood spot samples stored between 15 to 25 years was tested, and high-quality genomic DNA from 8 of the same individuals was used as reference. Results Using 3.2 mm disks from dried blood spot samples the optimal DNA-extraction and amplification protocol resulted in call-rates between 99.15% – 99.73% (mean 99.56%, N = 16, and conflicts with reference DNA in only three per 10,000 genotype calls. Conclusion Whole-genome amplified DNA from archived neonatal dried blood spot samples can be used for reliable genome-wide scans and is a cost-efficient alternative to collecting new samples.

  12. Combined amplification and hybridization techniques for genome scanning in vegetatively propagated crops

    A combination of PCR- and hybridization-based genome scanning techniques and sequence comparisons between non-coding chloroplast DNA flanking tRNA genes has been employed to screen Dioscorea species for intra- and interspecific genetic diversity. This methodology detected extensive polymorphisms within Dioscorea bulbifera L., and revealed taxonomic and phylogenetic relationships among cultivated Guinea yams varieties and their potential wild progenitors. Finally, screening of yam germplasm grown in Jamaica permitted reliable discrimination between all major cultivars. Genome scanning by micro satellite-primed PCR (MP-PCR) and random amplified polymorphic DNA (RAPD) analysis in combination with the novel random amplified micro satellite polymorphisms (RAMPO) hybridization technique has shown high potential for the genetic analysis of yams, and holds promise for other vegetatively propagated orphan crops. (author)

  13. Genome-wide association scan for five major dimensions of personality

    Terracciano, Antonio; Sanna, Serena; Uda, Manuela; Deiana, Barbara; Usala, Gianluca; Busonero, Fabio; Maschio, Andrea; Scally, Matthew; Patriciu, Nicholas; Chen, Wei-Min; Distel, Marijn A.; Slagboom, Eline P.; Boomsma, Dorret I.; Villafuerte, Sandra; Śliwerska, Elżbieta

    2008-01-01

    Personality traits are summarized by five broad dimensions with pervasive influences on major life outcomes, strong links to psychiatric disorders, and clear heritable components. To identify genetic variants associated with each of the five dimensions of personality we performed a genome wide association (GWA) scan of 3,972 individuals from a genetically isolated population within Sardinia, Italy. Based on analyses of 362,129 single nucleotide polymorphisms (SNPs) we found several strong sig...

  14. Quantitative linkage genome scan for atopy in a large collection of Caucasian families

    Webb, BT; van den Oord, E; Akkari, A;

    2007-01-01

    Quantitative phenotypes correlated with a complex disorder offer increased power to detect linkage in comparison to affected-unaffected classifications. Asthma is a complex disorder characterized by periods of bronchial obstruction and increased bronchial hyper reactivity. In childhood and early...... report represents one of the biggest genome scans so far reported for asthma related phenotypes. This study also demonstrates the utility of increased sample sizes and quantitative phenotypes in linkage analysis of complex disorders....

  15. A Whole Genome Linkage Scan Identifies Multiple Chromosomal Regions Influencing Adiposity-Related Traits among Samoans

    Dai, F.; Sun, G.; Åberg, K.; Keighley, E.D.; Indugula, S.R.; Roberts, S. T.; Smelser, D.; Viali, S.; Jin, L.; Deka, R.; Weeks, D.E.; McGarvey, S T

    2008-01-01

    We conducted a genome-wide scan in 46 pedigrees, with 671 phenotyped adults, from the independent nation of Samoa to map quantitative trait loci (QTLs) for adiposity-related phenotypes, including body mass index (BMI), abdominal circumference (ABDCIR), percent body fat (%BFAT), and fasting serum leptin and adiponectin. A set of 378 autosomal and 14 X chromosomal microsatellite markers were genotyped in 572 of the adults. Significant genetic correlations (0.82–0.96) were detected between pairs...

  16. A Whole-Genome Scan for Obstructive Sleep Apnea and Obesity

    Palmer, Lyle J; Buxbaum, Sarah G.; Larkin, Emma; Patel, Sanjay R; Elston, Robert C.; Tishler, Peter V.; Redline, Susan

    2002-01-01

    Obstructive sleep apnea (OSA) is a common, chronic, complex disease associated with serious cardiovascular and neuropsychological sequelae and with substantial social and economic costs. Along with male gender, obesity is the most characteristic feature of OSA in adults. To identify susceptibility loci for OSA, we undertook a 9-cM genome scan in 66 white pedigrees (n=349 subjects) ascertained on the basis of either an affected individual with laboratory-confirmed OSA or a proband who was a ne...

  17. Memory consolidation of landmarks in good navigators.

    Janzen, Gabriele; Jansen, Clemens; van Turennout, Miranda

    2008-01-01

    Landmarks play an important role in successful navigation. To successfully find your way around an environment, navigationally relevant information needs to be stored and become available at later moments in time. Evidence from functional magnetic resonance imaging (fMRI) studies shows that the human parahippocampal gyrus encodes the navigational relevance of landmarks. In the present event-related fMRI experiment, we investigated memory consolidation of navigationally relevant landmarks in the medial temporal lobe after route learning. Sixteen right-handed volunteers viewed two film sequences through a virtual museum with objects placed at locations relevant (decision points) or irrelevant (nondecision points) for navigation. To investigate consolidation effects, one film sequence was seen in the evening before scanning, the other one was seen the following morning, directly before scanning. Event-related fMRI data were acquired during an object recognition task. Participants decided whether they had seen the objects in the previously shown films. After scanning, participants answered standardized questions about their navigational skills, and were divided into groups of good and bad navigators, based on their scores. An effect of memory consolidation was obtained in the hippocampus: Objects that were seen the evening before scanning (remote objects) elicited more activity than objects seen directly before scanning (recent objects). This increase in activity in bilateral hippocampus for remote objects was observed in good navigators only. In addition, a spatial-specific effect of memory consolidation for navigationally relevant objects was observed in the parahippocampal gyrus. Remote decision point objects induced increased activity as compared with recent decision point objects, again in good navigators only. The results provide initial evidence for a connection between memory consolidation and navigational ability that can provide a basis for successful

  18. Beyond an AFLP genome scan towards the identification of immune genes involved in plague resistance in Rattus rattus from Madagascar

    Tollenaere, C.; Jacquet, S.; Ivanova, S.; Loiseau, A; Duplantier, Jean-Marc; Streiff, R; Brouat, Carine

    2013-01-01

    Genome scans using amplified fragment length polymorphism (AFLP) markers became popular in nonmodel species within the last 10 years, but few studies have tried to characterize the anonymous outliers identified. This study follows on from an AFLP genome scan in the black rat (Rattus rattus), the reservoir of plague (Yersinia pestis infection) in Madagascar. We successfully sequenced 17 of the 22 markers previously shown to be potentially affected by plague-mediated selection and associated wi...

  19. Genome Scan for Parent-of-Origin QTL Effects on Bovine Growth and Carcass Traits.

    Imumorin, Ikhide G; Kim, Eun-Hee; Lee, Yun-Mi; De Koning, Dirk-Jan; van Arendonk, Johan A; De Donato, Marcos; Taylor, Jeremy F; Kim, Jong-Joo

    2011-01-01

    Parent-of-origin effects (POE) such as genomic imprinting influence growth and body composition in livestock, rodents, and humans. Here, we report the results of a genome scan to detect quantitative trait loci (QTL) with POE on growth and carcass traits in Angus × Brahman cattle crossbreds. We identified 24 POE-QTL on 15 Bos taurus autosomes (BTAs) of which six were significant at 5% genome-wide (GW) level and 18 at the 5% chromosome-wide (CW) significance level. Six QTL were paternally expressed while 15 were maternally expressed. Three QTL influencing post-weaning growth map to the proximal end of BTA2 (linkage region of 0-9 cM; genomic region of 5.0-10.8 Mb), for which only one imprinted ortholog is known so far in the human and mouse genomes, and therefore may potentially represent a novel imprinted region. The detected QTL individually explained 1.4 ∼ 5.1% of each trait's phenotypic variance. Comparative in silico analysis of bovine genomic locations show that 32 out of 1,442 known mammalian imprinted genes from human and mouse homologs map to the identified QTL regions. Although several of the 32 genes have been associated with quantitative traits in cattle, only two (GNAS and PEG3) have experimental proof of being imprinted in cattle. These results lend additional support to recent reports that POE on quantitative traits in mammals may be more common than previously thought, and strengthen the need to identify and experimentally validate cattle orthologs of imprinted genes so as to investigate their effects on quantitative traits. PMID:22303340

  20. Genome scan for parent-of-origin QTL effects on bovine growth and carcass traits

    Ikhide G. Imumorin

    2011-07-01

    Full Text Available Parent-of-origin effects (POE such as genomic imprinting influence growth and body composition in livestock, rodents and humans. Here, we report the results of a genome scan to detect quantitative trait loci (QTL with POE on growth and carcass traits in Angus x Brahman cattle crossbreds. We identified 24 POE-QTL on 15 Bos taurus autosomes (BTAs of which 6 were significant at 5% genome-wide level and 18 at the 5% chromosome-wide significance level. Six QTL were paternally expressed while 15 were maternally expressed. Three QTL influencing post-weaning growth map to the proximal end of BTA2 [linkage region of 0 – 9 cM; genomic region of 5.0 – 10.8 Mb], for which only one imprinted orthologue is known so far in the human and mouse genomes, and therefore may potentially represent a novel imprinted region. The detected QTL individually explained 1.4% ~ 5.1% of each trait’s phenotypic variance. Comparative in-silico analysis of bovine genomic locations show that 32 out of 1,442 known mammalian imprinted genes from human and mouse homologues map to the identified QTL regions. Although several of the 32 genes have been associated with quantitative traits in cattle, only 2 (GNAS and PEG3 have experimental proof of being imprinted in cattle. These results lend additional support to recent reports that POE on quantitative traits in mammals may be more common than previously thought, and strengthen the need to identify and experimentally validate cattle orthologues of imprinted genes so as to investigate their effects on quantitative traits.

  1. Genome-Wide Scan for Adaptive Divergence and Association with Population-Specific Covariates.

    Gautier, Mathieu

    2015-12-01

    In population genomics studies, accounting for the neutral covariance structure across population allele frequencies is critical to improve the robustness of genome-wide scan approaches. Elaborating on the BayEnv model, this study investigates several modeling extensions (i) to improve the estimation accuracy of the population covariance matrix and all the related measures, (ii) to identify significantly overly differentiated SNPs based on a calibration procedure of the XtX statistics, and (iii) to consider alternative covariate models for analyses of association with population-specific covariables. In particular, the auxiliary variable model allows one to deal with multiple testing issues and, providing the relative marker positions are available, to capture some linkage disequilibrium information. A comprehensive simulation study was carried out to evaluate the performances of these different models. Also, when compared in terms of power, robustness, and computational efficiency to five other state-of-the-art genome-scan methods (BayEnv2, BayScEnv, BayScan, flk, and lfmm), the proposed approaches proved highly effective. For illustration purposes, genotyping data on 18 French cattle breeds were analyzed, leading to the identification of 13 strong signatures of selection. Among these, four (surrounding the KITLG, KIT, EDN3, and ALB genes) contained SNPs strongly associated with the piebald coloration pattern while a fifth (surrounding PLAG1) could be associated to morphological differences across the populations. Finally, analysis of Pool-Seq data from 12 populations of Littorina saxatilis living in two different ecotypes illustrates how the proposed framework might help in addressing relevant ecological issues in nonmodel species. Overall, the proposed methods define a robust Bayesian framework to characterize adaptive genetic differentiation across populations. The BayPass program implementing the different models is available at http://www1.montpellier

  2. Genome-wide Association Scan for Childhood Caries Implicates Novel Genes

    Shaffer, J.R.; Wang, X.; Feingold, E.; M. Lee; Begum, F.; Weeks, D. E.; Cuenco, K.T.; Barmada, M M; Wendell, S.K.; Crosslin, D R; Laurie, C. C.; Doheny, K F; Pugh, E W; Zhang, Q.; Feenstra, B

    2011-01-01

    Dental caries is the most common chronic disease in children and a major public health concern due to its increasing incidence, serious health and social co-morbidities, and socio-demographic disparities in disease burden. We performed the first genome-wide association scan for dental caries to identify associated genetic loci and nominate candidate genes affecting tooth decay in 1305 US children ages 3-12 yrs. Affection status was defined as 1 or more primary teeth with evidence of decay bas...

  3. Genome-wide linkage and association scans for pulse pressure in Chinese twins

    Zhang, Dongfeng; Pang, Zengchang; Li, Shuxia; Jiang, Wenjie; Wang, Shaojie; Thomassen, Mads; von Bornemann Hjelmborg, Jacob; Kruse, Torben A; Ohm Kyvik, Kirsten; Christensen, Kaare; Zhu, Gu; Tan, Qihua

    2012-01-01

    report the results of our gene mapping studies conducted in the Chinese population in mainland China. The genome-wide linkage and association scans were carried out on 63 middle-aged dizygotic twin pairs using high-density markers. The linkage analysis identified three significant linkage peaks (all with......Elevated pulse pressure (PP) is associated with cardiovascular disorders and mortality in various populations. The genetic influence on PP has been confirmed by heritability estimates using related individuals. Recently, efforts have been made by mapping genes that are linked to the phenotype. We...

  4. Genome-wide scans of genetic variants for psychophysiological endophenotypes: a methodological overview.

    Iacono, William G; Malone, Stephen M; Vaidyanathan, Uma; Vrieze, Scott I

    2014-12-01

    This article provides an introductory overview of the investigative strategy employed to evaluate the genetic basis of 17 endophenotypes examined as part of a 20-year data collection effort from the Minnesota Center for Twin and Family Research. Included are characterization of the study samples, descriptive statistics for key properties of the psychophysiological measures, and rationale behind the steps taken in the molecular genetic study design. The statistical approach included (a) biometric analysis of twin and family data, (b) heritability analysis using 527,829 single nucleotide polymorphisms (SNPs), (c) genome-wide association analysis of these SNPs and 17,601 autosomal genes, (d) follow-up analyses of candidate SNPs and genes hypothesized to have an association with each endophenotype, (e) rare variant analysis of nonsynonymous SNPs in the exome, and (f) whole genome sequencing association analysis using 27 million genetic variants. These methods were used in the accompanying empirical articles comprising this special issue, Genome-Wide Scans of Genetic Variants for Psychophysiological Endophenotypes. PMID:25387703

  5. HybGFS: a hybrid method for genome-fingerprint scanning

    Sugiyama Naoyuki

    2006-10-01

    Full Text Available Abstract Background Protein identification based on mass spectrometry (MS has previously been performed using peptide mass fingerprinting (PMF or tandem MS (MS/MS database searching. However, these methods cannot identify proteins that are not already listed in existing databases. Moreover, the alternative approach of de novo sequencing requires costly equipment and the interpretation of complex MS/MS spectra. Thus, there is a need for novel high-throughput protein-identification methods that are independent of existing predefined protein databases. Results Here, we present a hybrid method for genome-fingerprint scanning, known as HybGFS. This technique combines genome sequence-based peptide MS/MS ion searching with liquid-chromatography elution-time (LC-ET prediction, to improve the reliability of identification. The hybrid method allows the simultaneous identification and mapping of proteins without a priori information about their coding sequences. The current study used standard LC-MS/MS data to query an in silico-generated six-reading-frame translation and the enzymatic digest of an entire genome. Used in conjunction with precursor/product ion-mass searching, the LC-ETs increased confidence in the peptide-identification process and reduced the number of false-positive matches. The power of this method was demonstrated using recombinant proteins from the Escherichia coli K12 strain. Conclusion The novel hybrid method described in this study will be useful for the large-scale experimental confirmation of genome coding sequences, without the need for transcriptome-level expression analysis or costly MS database searching.

  6. Selecting landmarks in novel environments.

    Miller, Jared; Carlson, Laura

    2011-02-01

    People use salient landmarks when learning a route through a novel environment. However, it is not clear what makes a given landmark salient. In two experiments, subjects learned a route through a virtual museum, performed a recognition memory test for objects in the museum, and provided spatial descriptions and drew maps of the learned route. Objects with strong perceptual features occurred at decision points or at non-decision points along the route. Objects with both of these features were recognized faster and were included more often in the maps and written directions. When these features were separated, perceptual features maintained a strong influence on the recognition task, but had no influence on the spatial tasks, which were influenced only by spatial features. These findings challenge the idea that either a recognition task or descriptive task alone provides a complete account of landmark representation. PMID:21327344

  7. Scanning for signatures of geographically restricted selection based on population genomics analysis

    2007-01-01

    Natural selection, as the driving force of human evolution, has direct impact on population differentiation. However, it is still unclear to what extent the genetic differentiation has been caused by natural selection. To explore this question, we performed a genome-wide scan with single nucleotide polymorphism (SNP) data from the International HapMap Project. Single locus FST analysis was applied to assess the frequency difference among populations in autosomes. Based on the empirical distribution of FST, we identified 12669 SNPs correlating to population differentiation and 1853 candidate genes subjected to geographic restricted natural selection. Further interpretation of gene ontogeny revealed 121 categories of biological process with the enrichments of candidate genes. Our results suggest that natural selection may play an important role in human population differentiation. In addition, our analysis provides new clues as well as research methods for our understanding of population differentiation and natural selection.

  8. A genome scan for type 2 diabetes susceptibility loci in a genetically isolated population.

    Permutt, M A; Wasson, J C; Suarez, B K; Lin, J; Thomas, J; Meyer, J; Lewitzky, S; Rennich, J S; Parker, A; DuPrat, L; Maruti, S; Chayen, S; Glaser, B

    2001-03-01

    A total of 896 individuals of Ashkenazi Jewish descent were ascertained in Israel from 267 multiplex families, including 472 sib-pairs affected with type 2 diabetes. A genome-wide scan with average marker spacing of 9.5 cM revealed five regions on four chromosomes (4q, 8q, 14q, and 20q) that exhibited nominal evidence for linkage (P families were ranked by BMI (in increasing order) did a subset attain nominal significance, and only for chromosome 4. The findings reported here lend credence to the hypothesis, now supported by four studies of Caucasian populations and most recently by a combined analysis of 1,852 pedigrees, that a type 2 diabetes susceptibility locus resides on chromosome 20q. This population, because of its unique genetic attributes, may facilitate identification of this and other genes contributing to type 2 diabetes. PMID:11246891

  9. 3D facial landmarks: Inter-operator variability of manual annotation

    Fagertun, Jens; Harder, Stine; Rosengren, Anders;

    2014-01-01

    .g. the research fields of orthodontics and cephalometrics. We present a full facial 3D annotation procedure and a sparse set of manually annotated landmarks, in effort to reduce operator time and minimize the variance. Method Facial scans from 36 voluntary unrelated blood donors from the Danish Blood...... landmarks in order to construct a dense correspondence map of the 3D scans with a minimum point variance. Results The anatomical landmarks of the eye were associated with the lowest variance, particularly the center of the pupils. Whereas points of the jaw and eyebrows have the highest variation. We see......Background Manual annotation of landmarks is a known source of variance, which exist in all fields of medical imaging, influencing the accuracy and interpretation of the results. However, the variability of human facial landmarks is only sparsely addressed in the current literature as opposed to e...

  10. Collaborative regression-based anatomical landmark detection

    Gao, Yaozong; Shen, Dinggang

    2015-12-01

    Anatomical landmark detection plays an important role in medical image analysis, e.g. for registration, segmentation and quantitative analysis. Among the various existing methods for landmark detection, regression-based methods have recently attracted much attention due to their robustness and efficiency. In these methods, landmarks are localised through voting from all image voxels, which is completely different from the classification-based methods that use voxel-wise classification to detect landmarks. Despite their robustness, the accuracy of regression-based landmark detection methods is often limited due to (1) the inclusion of uninformative image voxels in the voting procedure, and (2) the lack of effective ways to incorporate inter-landmark spatial dependency into the detection step. In this paper, we propose a collaborative landmark detection framework to address these limitations. The concept of collaboration is reflected in two aspects. (1) Multi-resolution collaboration. A multi-resolution strategy is proposed to hierarchically localise landmarks by gradually excluding uninformative votes from faraway voxels. Moreover, for informative voxels near the landmark, a spherical sampling strategy is also designed at the training stage to improve their prediction accuracy. (2) Inter-landmark collaboration. A confidence-based landmark detection strategy is proposed to improve the detection accuracy of ‘difficult-to-detect’ landmarks by using spatial guidance from ‘easy-to-detect’ landmarks. To evaluate our method, we conducted experiments extensively on three datasets for detecting prostate landmarks and head & neck landmarks in computed tomography images, and also dental landmarks in cone beam computed tomography images. The results show the effectiveness of our collaborative landmark detection framework in improving landmark detection accuracy, compared to other state-of-the-art methods.

  11. Genome-wide Scan of 29,141 African Americans Finds No Evidence of Directional Selection since Admixture

    Bhatia, Gaurav; Tandon, Arti; Patterson, Nick; Aldrich, Melinda C.; Ambrosone, Christine B.; Amos, Christopher; Bandera, Elisa V.; Berndt, Sonja I.; Bernstein, Leslie; Blot, William J.; Bock, Cathryn H.; Caporaso, Neil; Casey, Graham; Deming, Sandra L.; Diver, W. Ryan

    2014-01-01

    The extent of recent selection in admixed populations is currently an unresolved question. We scanned the genomes of 29,141 African Americans and failed to find any genome-wide-significant deviations in local ancestry, indicating no evidence of selection influencing ancestry after admixture. A recent analysis of data from 1,890 African Americans reported that there was evidence of selection in African Americans after their ancestors left Africa, both before and after admixture. Selection afte...

  12. Genome-wide scan of 29,141 African Americans finds no evidence of selection since admixture

    Bhatia, Gaurav; Tandon, Arti; Aldrich, Melinda C.; Ambrosone, Christine B.; Amos, Christopher; Bandera, Elisa V.; Berndt, Sonja I.; Bernstein, Leslie; William J Blot; Bock, Cathryn H.; Caporaso, Neil; Casey, Graham; Deming, Sandra L.; Diver, W Ryan; Gapstur, Susan M

    2013-01-01

    We scanned through the genomes of 29,141 African Americans, searching for loci where the average proportion of African ancestry deviates significantly from the genome-wide average. We failed to find any genome-wide significant deviations, and conclude that any selection in African Americans since admixture is sufficiently weak that it falls below the threshold of our power to detect it using a large sample size. These results stand in contrast to the findings of a recent study of selection in...

  13. The Great American Landmarks Adventure.

    Weeks, Kay

    This profusely illustrated booklet, written primarly for school children, includes drawings and descriptions of 43 of the National Historic Landmarks located in the United States. The accounts move chronologically from prehistoric cave paintings through the moon rocks collected by the Apollo astronauts in 1969. Most of the drawings represent the…

  14. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

    Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza-Revilla, Javier; Fuentes-Guajardo, Macarena; Chacón-Duque, Juan-Camilo; Al-Saadi, Farah; Johansson, Jeanette A.; Quinto-Sanchez, Mirsha; Acuña-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Barquera Lozano, Rodrigo; Macín Pérez, Gastón; Gómez-Valdés, Jorge

    2016-01-01

    We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identifi...

  15. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

    Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza-Revilla, Javier; Fuentes-Guajardo, Macarena; Chacón-Duque, Juan-Camilo; Al-Saadi, Farah; Johansson, Jeanette A.; Quinto-Sanchez, Mirsha; Acuña-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Barquera Lozano, Rodrigo; Macín Pérez, Gastón; Gómez-Valdés, Jorge

    2016-01-01

    We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10−8 to 3 × 10−119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified l...

  16. An Evaluation of Cellular Neural Networks for the Automatic Identification of Cephalometric Landmarks on Digital Images

    Rosalia Leonardi

    2009-01-01

    Full Text Available Several efforts have been made to completely automate cephalometric analysis by automatic landmark search. However, accuracy obtained was worse than manual identification in every study. The analogue-to-digital conversion of X-ray has been claimed to be the main problem. Therefore the aim of this investigation was to evaluate the accuracy of the Cellular Neural Networks approach for automatic location of cephalometric landmarks on softcopy of direct digital cephalometric X-rays. Forty-one, direct-digital lateral cephalometric radiographs were obtained by a Siemens Orthophos DS Ceph and were used in this study and 10 landmarks (N, A Point, Ba, Po, Pt, B Point, Pg, PM, UIE, LIE were the object of automatic landmark identification. The mean errors and standard deviations from the best estimate of cephalometric points were calculated for each landmark. Differences in the mean errors of automatic and manual landmarking were compared with a 1-way analysis of variance. The analyses indicated that the differences were very small, and they were found at most within 0.59 mm. Furthermore, only few of these differences were statistically significant, but differences were so small to be in most instances clinically meaningless. Therefore the use of X-ray files with respect to scanned X-ray improved landmark accuracy of automatic detection. Investigations on softcopy of digital cephalometric X-rays, to search more landmarks in order to enable a complete automatic cephalometric analysis, are strongly encouraged.

  17. Beyond an AFLP genome scan towards the identification of immune genes involved in plague resistance in Rattus rattus from Madagascar.

    Tollenaere, C; Jacquet, S; Ivanova, S; Loiseau, A; Duplantier, J-M; Streiff, R; Brouat, C

    2013-01-01

    Genome scans using amplified fragment length polymorphism (AFLP) markers became popular in nonmodel species within the last 10 years, but few studies have tried to characterize the anonymous outliers identified. This study follows on from an AFLP genome scan in the black rat (Rattus rattus), the reservoir of plague (Yersinia pestis infection) in Madagascar. We successfully sequenced 17 of the 22 markers previously shown to be potentially affected by plague-mediated selection and associated with a plague resistance phenotype. Searching these sequences in the genome of the closely related species Rattus norvegicus assigned them to 14 genomic regions, revealing a random distribution of outliers in the genome (no clustering). We compared these results with those of an in silico AFLP study of the R. norvegicus genome, which showed that outlier sequences could not have been inferred by this method in R. rattus (only four of the 15 sequences were predicted). However, in silico analysis allowed the prediction of AFLP markers distribution and the estimation of homoplasy rates, confirming its potential utility for designing AFLP studies in nonmodel species. The 14 genomic regions surrounding AFLP outliers (less than 300 kb from the marker) contained 75 genes encoding proteins of known function, including nine involved in immune function and pathogen defence. We identified the two interleukin 1 genes (Il1a and Il1b) that share homology with an antigen of Y. pestis, as the best candidates for genes subject to plague-mediated natural selection. At least six other genes known to be involved in proinflammatory pathways may also be affected by plague-mediated selection. PMID:23237097

  18. Leaky ribosomal scanning in mammalian genomes: significance of histone H4 alternative translation in vivo.

    Smith, Elisheva; Meyerrose, Todd E; Kohler, Thomas; Namdar-Attar, Malka; Bab, Natti; Lahat, Olga; Noh, Tommy; Li, Jingjing; Karaman, Mazen W; Hacia, Joseph G; Chen, Ting T; Nolta, Jan A; Müller, Ralph; Bab, Itai; Frenkel, Baruch

    2005-01-01

    Like alternative splicing, leaky ribosomal scanning (LRS), which occurs at suboptimal translational initiation codons, increases the physiological flexibility of the genome by allowing alternative translation. Comprehensive analysis of 22 208 human mRNAs indicates that, although the most important positions relative to the first nucleotide of the initiation codon, -3 and +4, are usually such that support initiation (A-3 = 42%, G-3 = 36% and G+4 = 47%), only 37.4% of the genes adhere to the purine (R)-3/G+4 rule at both positions simultaneously, suggesting that LRS may occur in some of the remaining (62.6%) genes. Moreover, 12.5% of the genes lack both R-3 and G+4, potentially leading to sLRS. Compared with 11 genes known to undergo LRS, 10 genes with experimental evidence for high fidelity A+1T+2G+3 initiation codons adhered much more strongly to the R-3/G+4 rule. Among the intron-less histone genes, only the H3 genes adhere to the R-3/G+4 rule, while the H1, H2A, H2B and H4 genes usually lack either R-3 or G+4. To address in vivo the significance of the previously described LRS of H4 mRNAs, which results in alternative translation of the osteogenic growth peptide, transgenic mice were engineered that ubiquitously and constitutively express a mutant H4 mRNA with an A+1T+1 mutation. These transgenic mice, in particular the females, have a high bone mass phenotype, attributable to increased bone formation. These data suggest that many genes may fulfill cryptic functions by LRS. PMID:15741183

  19. Cross-laboratory validation of the OncoScan® FFPE Assay, a multiplex tool for whole genome tumour profiling

    Foster, Joseph M.; Oumie, Assa; Togneri, Fiona S.; Vasques, Fabiana Ramos; Hau, Debra; Taylor, Morag; Tinkler-Hundal, Emma; Southward, Katie; Medlow, Paul; McGreeghan-Crosby, Keith; Halfpenny, Iris; McMullan, Dominic J.; Quirke, Phil; Keating, Katherine E; Griffiths, Mike

    2015-01-01

    Background Adoption of new technology in both basic research and clinical settings requires rigorous validation of analytical performance. The OncoScan® FFPE Assay is a multiplexing tool that offers genome-wide copy number and loss of heterozygosity detection, as well as identification of frequently tested somatic mutations. Methods In this study, 162 formalin fixed paraffin embedded samples, representing six different tumour types, were profiled in triplicate across three independent laborat...

  20. Localization of skeletal and aortic landmarks in trauma CT data based on the discriminative generalized Hough transform

    Lorenz, Cristian; Hansis, Eberhard; Weese, Jürgen; Carolus, Heike

    2016-03-01

    Computed tomography is the modality of choice for poly-trauma patients to assess rapidly skeletal and vascular integrity of the whole body. Often several scans with and without contrast medium or with different spatial resolution are acquired. Efficient reading of the resulting extensive set of image data is vital, since it is often time critical to initiate the necessary therapeutic actions. A set of automatically found landmarks can facilitate navigation in the data and enables anatomy oriented viewing. Following this intention, we selected a comprehensive set of 17 skeletal and 5 aortic landmarks. Landmark localization models for the Discriminative Generalized Hough Transform (DGHT) were automatically created based on a set of about 20 training images with ground truth landmark positions. A hierarchical setup with 4 resolution levels was used. Localization results were evaluated on a separate test set, consisting of 50 to 128 images (depending on the landmark) with available ground truth landmark locations. The image data covers a large amount of variability caused by differences of field-of-view, resolution, contrast agent, patient gender and pathologies. The median localization error for the set of aortic landmarks was 14.4 mm and for the set of skeleton landmarks 5.5 mm. Median localization errors for individual landmarks ranged from 3.0 mm to 31.0 mm. The runtime performance for the whole landmark set is about 5s on a typical PC.

  1. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.

    Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza-Revilla, Javier; Fuentes-Guajardo, Macarena; Chacón-Duque, Juan-Camilo; Al-Saadi, Farah; Johansson, Jeanette A; Quinto-Sanchez, Mirsha; Acuña-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Barquera Lozano, Rodrigo; Macín Pérez, Gastón; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Hunemeier, Tábita; Ramallo, Virginia; Silva de Cerqueira, Caio C; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo, Carla; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco M; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; Gonzalez-José, Rolando; Headon, Denis; López-Otín, Carlos; Tobin, Desmond J; Balding, David; Ruiz-Linares, Andrés

    2016-01-01

    We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair. PMID:26926045

  2. A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data

    Scherer Stephen W

    2011-05-01

    Full Text Available Abstract Background Several statistical tests have been developed for analyzing genome-wide association data by incorporating gene pathway information in terms of gene sets. Using these methods, hundreds of gene sets are typically tested, and the tested gene sets often overlap. This overlapping greatly increases the probability of generating false positives, and the results obtained are difficult to interpret, particularly when many gene sets show statistical significance. Results We propose a flexible statistical framework to circumvent these problems. Inspired by spatial scan statistics for detecting clustering of disease occurrence in the field of epidemiology, we developed a scan statistic to extract disease-associated gene clusters from a whole gene pathway. Extracting one or a few significant gene clusters from a global pathway limits the overall false positive probability, which results in increased statistical power, and facilitates the interpretation of test results. In the present study, we applied our method to genome-wide association data for rare copy-number variations, which have been strongly implicated in common diseases. Application of our method to a simulated dataset demonstrated the high accuracy of this method in detecting disease-associated gene clusters in a whole gene pathway. Conclusions The scan statistic approach proposed here shows a high level of accuracy in detecting gene clusters in a whole gene pathway. This study has provided a sound statistical framework for analyzing genome-wide rare CNV data by incorporating topological information on the gene pathway.

  3. Anatomic Landmarks for the First Dorsal Compartment

    Hazani, Ron; Engineer, Nitin J.; Cooney, Damon; Wilhelmi, Bradon J.

    2009-01-01

    Objective: Knowledge of anatomic landmarks for the first dorsal compartment can assist clinicians with management of de Quervain's disease. The radial styloid, the scaphoid tubercle, and Lister's tubercle can be used as superficial landmarks for the first dorsal compartment. Methods: Thirty-two cadaveric wrists were dissected, and measurements were taken from the predetermined landmarks to the extensor retinaculum. The compartments were also inspected for variability of the abductor pollicis ...

  4. Family-Based Genome-Wide Association Scan of Attention-Deficit/Hyperactivity Disorder

    Mick, Eric; Todorov, Alexandre; Smalley, Susan; Hu, Xiaolan; Loo, Sandra; Todd, Richard D.; Biederman, Joseph; Byrne, Deirdre; Dechairo, Bryan; Guiney, Allan; McCracken, James; McGough, James; Nelson, Stanley F.; Reiersen, Angela M.; Wilens, Timothy E.; Wozniak, Janet; Neale, Benjamin M.; Faraone, Stephen V.

    2010-01-01

    Objective: Genes likely play a substantial role in the etiology of attention-deficit/hyperactivity disorder (ADHD). However, the genetic architecture of the disorder is unknown, and prior genome-wide association studies (GWAS) have not identified a genome-wide significant association. We have conducted a third, independent, multisite GWAS of…

  5. Whole genome PCR scanning reveals the syntenic genome structure of toxigenic Vibrio cholerae strains in the O1/O139 population.

    Bo Pang

    Full Text Available Vibrio cholerae is commonly found in estuarine water systems. Toxigenic O1 and O139 V. cholerae strains have caused cholera epidemics and pandemics, whereas the nontoxigenic strains within these serogroups only occasionally lead to disease. To understand the differences in the genome and clonality between the toxigenic and nontoxigenic strains of V. cholerae serogroups O1 and O139, we employed a whole genome PCR scanning (WGPScanning method, an rrn operon-mediated fragment rearrangement analysis and comparative genomic hybridization (CGH to analyze the genome structure of different strains. WGPScanning in conjunction with CGH revealed that the genomic contents of the toxigenic strains were conservative, except for a few indels located mainly in mobile elements. Minor nucleotide variation in orthologous genes appeared to be the major difference between the toxigenic strains. rrn operon-mediated rearrangements were infrequent in El Tor toxigenic strains tested using I-CeuI digested pulsed-field gel electrophoresis (PFGE analysis and PCR analysis based on flanking sequence of rrn operons. Using these methods, we found that the genomic structures of toxigenic El Tor and O139 strains were syntenic. The nontoxigenic strains exhibited more extensive sequence variations, but toxin coregulated pilus positive (TCP+ strains had a similar structure. TCP+ nontoxigenic strains could be subdivided into multiple lineages according to the TCP type, suggesting the existence of complex intermediates in the evolution of toxigenic strains. The data indicate that toxigenic O1 El Tor and O139 strains were derived from a single lineage of intermediates from complex clones in the environment. The nontoxigenic strains with non-El Tor type TCP may yet evolve into new epidemic clones after attaining toxigenic attributes.

  6. Reproducibility of imaging skull anatomic landmarks utilizing three-dimensional computed tomography

    Sugawara, Yasushi; Harii, Kiyonori (Tokyo Univ. (Japan). Faculty of Medicine); Hirabayashi, Shinichi

    1994-05-01

    The study investigated the reproducibility of locating specific anatomic landmarks, utilizing computed tomography (CT), for the purpose of assigning accurate coordinates on the skull. Three-dimensional (3-D) CT data, obtained by scanning a dry adult skull, were processed using a multi-planar reconstruction (MPR) system. Each landmark was identified five times by the same technician, and the average distances between points identifying the same landmark were calculated. The 15 landmarks studied were the infra-orbital foramina, the external auditory meatus, the foramina rotundum, the foramina ovale, the optic canals, anterior crinoid processes, anterior nasal spine, crista galli, and the sella turcica. Three additional artificial markers placed in occlusal dental splints were also examined. The crinoid processes were identified with the highest degree of accuracy. The crista galli and optic canals were also located with reproducible results. The standard deviation calculated from the fine attempts to locate the artificial markers was smaller than that calculated from attempts to identify any of the landmarks. This implies that coordinates on the craniofacial bones should be defined using artificial markers rather than bony landmarks. Artificial markers placed in occlusal dental splints easily can be applied clinically. Complicated facial bone contours should be analyzed mathematically. In clinical setting, these points were found to be reproducible in 15 bony landmarks on the skull. (N.K.).

  7. Reproducibility of imaging skull anatomic landmarks utilizing three-dimensional computed tomography

    The study investigated the reproducibility of locating specific anatomic landmarks, utilizing computed tomography (CT), for the purpose of assigning accurate coordinates on the skull. Three-dimensional (3-D) CT data, obtained by scanning a dry adult skull, were processed using a multi-planar reconstruction (MPR) system. Each landmark was identified five times by the same technician, and the average distances between points identifying the same landmark were calculated. The 15 landmarks studied were the infra-orbital foramina, the external auditory meatus, the foramina rotundum, the foramina ovale, the optic canals, anterior crinoid processes, anterior nasal spine, crista galli, and the sella turcica. Three additional artificial markers placed in occlusal dental splints were also examined. The crinoid processes were identified with the highest degree of accuracy. The crista galli and optic canals were also located with reproducible results. The standard deviation calculated from the fine attempts to locate the artificial markers was smaller than that calculated from attempts to identify any of the landmarks. This implies that coordinates on the craniofacial bones should be defined using artificial markers rather than bony landmarks. Artificial markers placed in occlusal dental splints easily can be applied clinically. Complicated facial bone contours should be analyzed mathematically. In clinical setting, these points were found to be reproducible in 15 bony landmarks on the skull. (N.K.)

  8. A bi-dimensional genome scan for prolificacy traits in pigs shows the existence of multiple epistatic QTL

    Bidanel Jean P

    2009-12-01

    Full Text Available Abstract Background Prolificacy is the most important trait influencing the reproductive efficiency of pig production systems. The low heritability and sex-limited expression of prolificacy have hindered to some extent the improvement of this trait through artificial selection. Moreover, the relative contributions of additive, dominant and epistatic QTL to the genetic variance of pig prolificacy remain to be defined. In this work, we have undertaken this issue by performing one-dimensional and bi-dimensional genome scans for number of piglets born alive (NBA and total number of piglets born (TNB in a three generation Iberian by Meishan F2 intercross. Results The one-dimensional genome scan for NBA and TNB revealed the existence of two genome-wide highly significant QTL located on SSC13 (P SSC17 (P P P P P Conclusions The complex inheritance of prolificacy traits in pigs has been evidenced by identifying multiple additive (SSC13 and SSC17, dominant and epistatic QTL in an Iberian × Meishan F2 intercross. Our results demonstrate that a significant fraction of the phenotypic variance of swine prolificacy traits can be attributed to first-order gene-by-gene interactions emphasizing that the phenotypic effects of alleles might be strongly modulated by the genetic background where they segregate.

  9. Enhancing SAT Based Planning with Landmark Knowledge

    Elffers, J.; Konijnenberg, D.; Walraven, E.M.P.; Spaan, M.T.J.

    2013-01-01

    Several approaches exist to solve Artificial Intelligence planning problems, but little attention has been given to the combination of using landmark knowledge and satisfiability (SAT). Landmark knowledge has been exploited successfully in the heuristics of classical planning. Recently it was also s

  10. An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error

    Abbott, Diana; Li, Yi-Ju; Guggenheim, Jeremy A; Metlapally, Ravikanth; Malecaze, Francois; Calvas, Patrick; Rosenberg, Thomas; Paget, Sandrine; Zayats, Tetyana; Mackey, David A; Feng, Sheng; Young, Terri L

    2012-01-01

    To investigate quantitative trait loci linked to refractive error, we performed a genome-wide quantitative trait linkage analysis using single nucleotide polymorphism markers and family data from five international sites....

  11. A Genome-Wide Scan for Breast Cancer Risk Haplotypes among African American Women

    Song, Chi; Chen, Gary K.; Millikan, Robert C.; Ambrosone, Christine B.; John, Esther M; Bernstein, Leslie; Zheng, Wei; Jennifer J Hu; Ziegler, Regina G.; Nyante, Sarah; Bandera, Elisa V.; Sue A Ingles; Michael F. Press; Deming, Sandra L.; Rodriguez-Gil, Jorge L.

    2013-01-01

    Genome-wide association studies (GWAS) simultaneously investigating hundreds of thousands of single nucleotide polymorphisms (SNP) have become a powerful tool in the investigation of new disease susceptibility loci. Haplotypes are sometimes thought to be superior to SNPs and are promising in genetic association analyses. The application of genome-wide haplotype analysis, however, is hindered by the complexity of haplotypes themselves and sophistication in computation. We systematically analyz...

  12. Visual EKF-SLAM from Heterogeneous Landmarks

    Jorge Othón Esparza-Jiménez

    2016-04-01

    Full Text Available Many applications require the localization of a moving object, e.g., a robot, using sensory data acquired from embedded devices. Simultaneous localization and mapping from vision performs both the spatial and temporal fusion of these data on a map when a camera moves in an unknown environment. Such a SLAM process executes two interleaved functions: the front-end detects and tracks features from images, while the back-end interprets features as landmark observations and estimates both the landmarks and the robot positions with respect to a selected reference frame. This paper describes a complete visual SLAM solution, combining both point and line landmarks on a single map. The proposed method has an impact on both the back-end and the front-end. The contributions comprehend the use of heterogeneous landmark-based EKF-SLAM (the management of a map composed of both point and line landmarks; from this perspective, the comparison between landmark parametrizations and the evaluation of how the heterogeneity improves the accuracy on the camera localization, the development of a front-end active-search process for linear landmarks integrated into SLAM and the experimentation methodology.

  13. Visual EKF-SLAM from Heterogeneous Landmarks.

    Esparza-Jiménez, Jorge Othón; Devy, Michel; Gordillo, José L

    2016-01-01

    Many applications require the localization of a moving object, e.g., a robot, using sensory data acquired from embedded devices. Simultaneous localization and mapping from vision performs both the spatial and temporal fusion of these data on a map when a camera moves in an unknown environment. Such a SLAM process executes two interleaved functions: the front-end detects and tracks features from images, while the back-end interprets features as landmark observations and estimates both the landmarks and the robot positions with respect to a selected reference frame. This paper describes a complete visual SLAM solution, combining both point and line landmarks on a single map. The proposed method has an impact on both the back-end and the front-end. The contributions comprehend the use of heterogeneous landmark-based EKF-SLAM (the management of a map composed of both point and line landmarks); from this perspective, the comparison between landmark parametrizations and the evaluation of how the heterogeneity improves the accuracy on the camera localization, the development of a front-end active-search process for linear landmarks integrated into SLAM and the experimentation methodology. PMID:27070602

  14. A genome-wide scan for common alleles affecting risk for autism

    Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R.; Correia, Catarina; Abrahams, Brett S.; Sykes, Nuala; Pagnamenta, Alistair T.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J.; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Boelte, Sven; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R.; Casallo, Guillermo; Casey, Jillian; Chu, Su H.; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L.; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Fombonne, Eric; Freitag, Christine M.; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J.; Hakonarson, Hakon; Heron, Elizabeth A.; Hill, Matthew; Holt, Richard; Howe, Jennifer L.; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M.; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M.; Lamb, Janine A.; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L.; Lionel, Anath C.; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C.; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R.; McConachie, Helen; McDougle, Christopher J.; McGrath, Jane; McMahon, William M.; Melhem, Nadine M.; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J.; Mirza, Ghazala K.; Munson, Jeff; Nelson, Stanley F.; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R.; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; osey, David J.; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L.; Bierut, Laura J.; Rice, John P.; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C.; Soorya, Latha; Sousa, Ines; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P.; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B.; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H.; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L.; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D.; Cantor, Rita M.; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Gallagher, Louise; Geschwind, Daniel H.; Gill, Michael; Haines, Jonathan L.; Miller, Judith; Monaco, Anthony P.; Nurnberger, John I.; Paterson, Andrew D.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Sutcliffe, James S.; Szatmari, Peter; Vicente, Astrid M.; Vieland, Veronica J.; Wijsman, Ellen M.; Devlin, Bernie; Ennis, Sean; Hallmayer, Joachim

    2010-01-01

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD fa

  15. Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution

    C.M. Lindgren (Cecilia); I.M. Heid (Iris); J.C. Randall (Joshua); C. Lamina (Claudia); V. Steinthorsdottir (Valgerdur); L. Qi (Lu); E.K. Speliotes (Elizabeth); G. Thorleifsson (Gudmar); C.J. Willer (Cristen); B.M. Herrera (Blanca); A.U. Jackson (Anne); N. Lim (Noha); P. Scheet (Paul); N. Soranzo (Nicole); N. Amin (Najaf); Y.S. Aulchenko (Yurii); J.C. Chambers (John); A. Drong (Alexander); J. Luan; H.N. Lyon (Helen); F. Rivadeneira Ramirez (Fernando); S. Sanna (Serena); N. Timpson (Nicholas); M.C. Zillikens (Carola); H.Z. Jing; P. Almgren (Peter); S. Bandinelli (Stefania); A.J. Bennett (Amanda); R.N. Bergman (Richard); L.L. Bonnycastle (Lori); S. Bumpstead (Suzannah); S.J. Chanock (Stephen); L. Cherkas (Lynn); P.S. Chines (Peter); L. Coin (Lachlan); C. Cooper (Charles); G. Crawford (Gabe); A. Doering (Angela); A. Dominiczak (Anna); A.S.F. Doney (Alex); S. Ebrahim (Shanil); P. Elliott (Paul); M.R. Erdos (Michael); K. Estrada Gil (Karol); L. Ferrucci (Luigi); G. Fischer (Guido); N.G. Forouhi (Nita); C. Gieger (Christian); H. Grallert (Harald); C.J. Groves (Christopher); S.M. Grundy (Scott); C. Guiducci (Candace); D. Hadley (David); A. Hamsten (Anders); A.S. Havulinna (Aki); A. Hofman (Albert); R. Holle (Rolf); J.W. Holloway (John); T. Illig (Thomas); B. Isomaa (Bo); L.C. Jacobs (Leonie); K. Jameson (Karen); P. Jousilahti (Pekka); F. Karpe (Fredrik); J. Kuusisto (Johanna); J. Laitinen (Jaana); G.M. Lathrop (Mark); D.A. Lawlor (Debbie); M. Mangino (Massimo); W.L. McArdle (Wendy); T. Meitinger (Thomas); M.A. Morken (Mario); A.P. Morris (Andrew); P. Munroe (Patricia); N. Narisu (Narisu); A. Nordström (Anna); B.A. Oostra (Ben); C.N.A. Palmer (Colin); F. Payne (Felicity); J. Peden (John); I. Prokopenko (Inga); F. Renström (Frida); A. Ruokonen (Aimo); V. Salomaa (Veikko); M.S. Sandhu (Manjinder); L.J. Scott (Laura); A. Scuteri (Angelo); K. Silander (Kaisa); K. Song (Kijoung); X. Yuan (Xin); H.M. Stringham (Heather); A.J. Swift (Amy); T. Tuomi (Tiinamaija); M. Uda (Manuela); P. Vollenweider (Peter); G. Waeber (Gérard); C. Wallace (Chris); G.B. Walters (Bragi); M.N. Weedon (Michael); J.C.M. Witteman (Jacqueline); C. Zhang (Cuilin); M. Caulfield (Mark); F.S. Collins (Francis); G.D. Smith; I.N.M. Day (Ian); P.W. Franks (Paul); A.T. Hattersley (Andrew); F.B. Hu (Frank); M.R. Jarvelin; A. Kong (Augustine); J.S. Kooner (Jaspal); M. Laakso (Markku); E. Lakatta (Edward); V. Mooser (Vincent); L. Peltonen (Leena Johanna); N.J. Samani (Nilesh); T.D. Spector (Timothy); D.P. Strachan (David); T. Tanaka (Toshiko); J. Tuomilehto (Jaakko); A.G. Uitterlinden (André); P. Tikka-Kleemola (Päivi); N.J. Wareham (Nick); H. Watkins (Hugh); D. Waterworth (Dawn); M. Boehnke (Michael); P. Deloukas (Panagiotis); L. Groop (Leif); D.J. Hunter (David); U. Thorsteinsdottir (Unnur); D. Schlessinger (David); H.E. Wichmann (Erich); T.M. Frayling (Timothy); G.R. Abecasis (Gonçalo); J.N. Hirschhorn (Joel); R.J.F. Loos (Ruth); J-A. Zwart (John-Anker); K.L. Mohlke (Karen); I. Barroso (Inês); M.I. McCarthy (Mark)

    2009-01-01

    textabstractTo identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist-hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evid

  16. A genome-wide scan for breast cancer risk haplotypes among African American women.

    Chi Song

    Full Text Available Genome-wide association studies (GWAS simultaneously investigating hundreds of thousands of single nucleotide polymorphisms (SNP have become a powerful tool in the investigation of new disease susceptibility loci. Haplotypes are sometimes thought to be superior to SNPs and are promising in genetic association analyses. The application of genome-wide haplotype analysis, however, is hindered by the complexity of haplotypes themselves and sophistication in computation. We systematically analyzed the haplotype effects for breast cancer risk among 5,761 African American women (3,016 cases and 2,745 controls using a sliding window approach on the genome-wide scale. Three regions on chromosomes 1, 4 and 18 exhibited moderate haplotype effects. Furthermore, among 21 breast cancer susceptibility loci previously established in European populations, 10p15 and 14q24 are likely to harbor novel haplotype effects. We also proposed a heuristic of determining the significance level and the effective number of independent tests by the permutation analysis on chromosome 22 data. It suggests that the effective number was approximately half of the total (7,794 out of 15,645, thus the half number could serve as a quick reference to evaluating genome-wide significance if a similar sliding window approach of haplotype analysis is adopted in similar populations using similar genotype density.

  17. Whole-Genome Scans Provide Evidence of Adaptive Evolution in Malawian Plasmodium falciparum Isolates

    Ocholla, Harold; Preston, Mark D; Mipando, Mwapatsa;

    2014-01-01

    BACKGROUND:  Selection by host immunity and antimalarial drugs has driven extensive adaptive evolution in Plasmodium falciparum and continues to produce ever-changing landscapes of genetic variation. METHODS:  We performed whole-genome sequencing of 69 P. falciparum isolates from Malawi and used ...

  18. Efficient Haplotype Inference Algorithms in One Whole Genome Scan for Pedigree Data with Non-genotyped Founders

    Yongxi Cheng; Hadi Sabaa; Zhipeng Cai; Randy Goebel; Guohui Lin

    2009-01-01

    An efficient rule-based algorithm is presented for haplotype inference from general pedigree genotype data, with the assumption of no recombination. This algorithm generalizes previous algorithms to handle the cases where some pedigree founders are not genotyped, provided that for each nuclear family at least one parent is genotyped and each non-genotyped founder appears in exactly one nuclear family. The importance of this generalization lies in that such cases frequently happen in real data, because some founders may have passed away and their genotype data can no longer be collected. The algorithm runs in O(m3n3) time, where m is the number of single nucleotide polymorphism (SNP) loci under consideration and n is the number of genotyped members in the pedigree. This zero-recombination haplotyping algorithm is extended to a maximum parsimoniously haplotyping algorithm in one whole genome scan to minimize the total number of breakpoint sites, or equivalently, the number of maximal zero-recombination chromosomal regions. We show that such a whole genome scan haplotyping algorithm can be implemented in O(m3n3) time in a novel incremental fashion,here m denotes the total number of SNP loci along the chromosome.

  19. A 2cM genome-wide scan of European Holstein cattle affected by classical BSE

    Prasad Aparna

    2010-03-01

    Full Text Available Abstract Background Classical bovine spongiform encephalopathy (BSE is an acquired prion disease that is invariably fatal in cattle and has been implicated as a significant human health risk. Polymorphisms that alter the prion protein of sheep or humans have been associated with variations in transmissible spongiform encephalopathy susceptibility or resistance. In contrast, there is no strong evidence that non-synonymous mutations in the bovine prion gene (PRNP are associated with classical BSE disease susceptibility. However, two bovine PRNP insertion/deletion polymorphisms, one within the promoter region and the other in intron 1, have been associated with susceptibility to classical BSE. These associations do not explain the full extent of BSE susceptibility, and loci outside of PRNP appear to be associated with disease incidence in some cattle populations. To test for associations with BSE susceptibility, we conducted a genome wide scan using a panel of 3,072 single nucleotide polymorphism (SNP markers on 814 animals representing cases and control Holstein cattle from the United Kingdom BSE epidemic. Results Two sets of BSE affected Holstein cattle were analyzed in this study, one set with known family relationships and the second set of paired cases with controls. The family set comprises half-sibling progeny from six sires. The progeny from four of these sires had previously been scanned with microsatellite markers. The results obtained from the current analysis of the family set yielded both some supporting and new results compared with those obtained in the earlier study. The results revealed 27 SNPs representing 18 chromosomes associated with incidence of BSE disease. These results confirm a region previously reported on chromosome 20, and identify additional regions on chromosomes 2, 14, 16, 21 and 28. This study did not identify a significant association near the PRNP in the family sample set. The only association found in the PRNP

  20. A genome-wide scan for common alleles affecting risk for autism.

    Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R.; Correia, Catarina; Abrahams, Brett S.; Sykes, Nuala; Pagnamenta, Alistair T.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino

    2010-01-01

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker...

  1. A genome-wide scan for common alleles affecting risk for autism

    Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R.; Correia, Catarina; Abrahams, Brett S.; Sykes, Nuala; Pagnamenta, Alistair T.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino

    2010-01-01

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker...

  2. Genome-wide linkage scans for major depression in individuals with alcohol dependence

    Kuo, Po-Hsiu; Neale, Michael C.; Walsh, Dermot; Patterson, Diana G.; Riley, Brien; Prescott, Carol A.; Kendler, Kenneth S.

    2010-01-01

    Major depression is more prevalent among individuals with alcoholism than in the general population. Twin studies have found a moderate degree of genetic correlation for alcohol dependence (AD) and major depression (MD), suggesting the existence of loci that confer susceptibility to both disorders. The aim of the present study was to conduct genome-wide linkage analyses to identify loci and to replicate prior evidence for linkage to MD, and to search for linkage regions that may confer risk t...

  3. Genome-Wide Scans Provide Evidence for Positive Selection of Genes Implicated in Lassa Fever

    Andersen, Kristian G.; Shylakhter, Ilya; Tabrizi, Shervin; Grossman, Sharon Rachel; Happi, Christian Tientcha; Sabeti, Pardis Christine

    2012-01-01

    Rapidly evolving viruses and other pathogens can have an immense impact on human evolution as natural selection acts to increase the prevalence of genetic variants providing resistance to disease. With the emergence of large datasets of human genetic variation, we can search for signatures of natural selection in the human genome driven by such disease-causing microorganisms. Based on this approach, we have previously hypothesized that Lassa virus (LASV) may have been a driver of natural sele...

  4. Genome-wide scans provide evidence for positive selection of genes implicated in Lassa fever

    Andersen, Kristian G.; Shylakhter, Ilya; Tabrizi, Shervin; Grossman, Sharon R.; Happi, Christian T; Sabeti, Pardis C.

    2012-01-01

    Rapidly evolving viruses and other pathogens can have an immense impact on human evolution as natural selection acts to increase the prevalence of genetic variants providing resistance to disease. With the emergence of large datasets of human genetic variation, we can search for signatures of natural selection in the human genome driven by such disease-causing microorganisms. Based on this approach, we have previously hypothesized that Lassa virus (LASV) may have been a driver of natural sele...

  5. Landmarks selection in street map design

    In Taiwan many electrical maps present their landmarks according to the category of the feature, a designer short of knowledge about mental representation of space, can cause the map to lose its communication effects. To resolve this map design problem, in this research through long-term memory recall, navigation and observation, and short-term memory processing 111 participants were asked to select the proper landmark from study area. The results reveal that in Taiwan convenience stores are the most popular local landmark in rural and urban areas. Their commercial signs have a unique design and bright color. Contrasted to their background, this makes the convenience store a salient feature. This study also developed a rule to assess the priority of the landmarks to design them in different scale maps

  6. Autonomous Robot Navigation based on Visual Landmarks

    Livatino, Salvatore

    2005-01-01

    autonomous navigation and self-localization using automatically selected landmarks. The thesis investigates autonomous robot navigation and proposes a new method which benefits from the potential of the visual sensor to provide accuracy and reliability to the navigation process while relying on naturally...... update of the estimated robot position while the robot is moving. In order to make the system autonomous, both acquisition and observation of landmarks have to be carried out automatically. The thesis consequently proposes a method for learning and navigation of a working environment and it explores......The use of landmarks for robot navigation is a popular alternative to having a geometrical model of the environment through which to navigate and monitor self-localization. If the landmarks are defined as special visual structures already in the environment then we have the possibility of fully...

  7. Genome-wide scans provide evidence for positive selection of genes implicated in Lassa fever.

    Andersen, Kristian G; Shylakhter, Ilya; Tabrizi, Shervin; Grossman, Sharon R; Happi, Christian T; Sabeti, Pardis C

    2012-03-19

    Rapidly evolving viruses and other pathogens can have an immense impact on human evolution as natural selection acts to increase the prevalence of genetic variants providing resistance to disease. With the emergence of large datasets of human genetic variation, we can search for signatures of natural selection in the human genome driven by such disease-causing microorganisms. Based on this approach, we have previously hypothesized that Lassa virus (LASV) may have been a driver of natural selection in West African populations where Lassa haemorrhagic fever is endemic. In this study, we provide further evidence for this notion. By applying tests for selection to genome-wide data from the International Haplotype Map Consortium and the 1000 Genomes Consortium, we demonstrate evidence for positive selection in LARGE and interleukin 21 (IL21), two genes implicated in LASV infectivity and immunity. We further localized the signals of selection, using the recently developed composite of multiple signals method, to introns and putative regulatory regions of those genes. Our results suggest that natural selection may have targeted variants giving rise to alternative splicing or differential gene expression of LARGE and IL21. Overall, our study supports the hypothesis that selective pressures imposed by LASV may have led to the emergence of particular alleles conferring resistance to Lassa fever, and opens up new avenues of research pursuit. PMID:22312054

  8. Genome-wide scans provide evidence for positive selection of genes implicated in Lassa fever

    Andersen, Kristian G.; Shylakhter, Ilya; Tabrizi, Shervin; Grossman, Sharon R.; Happi, Christian T.; Sabeti, Pardis C.

    2012-01-01

    Rapidly evolving viruses and other pathogens can have an immense impact on human evolution as natural selection acts to increase the prevalence of genetic variants providing resistance to disease. With the emergence of large datasets of human genetic variation, we can search for signatures of natural selection in the human genome driven by such disease-causing microorganisms. Based on this approach, we have previously hypothesized that Lassa virus (LASV) may have been a driver of natural selection in West African populations where Lassa haemorrhagic fever is endemic. In this study, we provide further evidence for this notion. By applying tests for selection to genome-wide data from the International Haplotype Map Consortium and the 1000 Genomes Consortium, we demonstrate evidence for positive selection in LARGE and interleukin 21 (IL21), two genes implicated in LASV infectivity and immunity. We further localized the signals of selection, using the recently developed composite of multiple signals method, to introns and putative regulatory regions of those genes. Our results suggest that natural selection may have targeted variants giving rise to alternative splicing or differential gene expression of LARGE and IL21. Overall, our study supports the hypothesis that selective pressures imposed by LASV may have led to the emergence of particular alleles conferring resistance to Lassa fever, and opens up new avenues of research pursuit. PMID:22312054

  9. Genome-wide scans for candidate genes involved in the aquatic adaptation of dolphins.

    Sun, Yan-Bo; Zhou, Wei-Ping; Liu, He-Qun; Irwin, David M; Shen, Yong-Yi; Zhang, Ya-Ping

    2013-01-01

    Since their divergence from the terrestrial artiodactyls, cetaceans have fully adapted to an aquatic lifestyle, which represents one of the most dramatic transformations in mammalian evolutionary history. Numerous morphological and physiological characters of cetaceans have been acquired in response to this drastic habitat transition, such as thickened blubber, echolocation, and ability to hold their breath for a long period of time. However, knowledge about the molecular basis underlying these adaptations is still limited. The sequence of the genome of Tursiops truncates provides an opportunity for a comparative genomic analyses to examine the molecular adaptation of this species. Here, we constructed 11,838 high-quality orthologous gene alignments culled from the dolphin and four other terrestrial mammalian genomes and screened for positive selection occurring in the dolphin lineage. In total, 368 (3.1%) of the genes were identified as having undergone positive selection by the branch-site model. Functional characterization of these genes showed that they are significantly enriched in the categories of lipid transport and localization, ATPase activity, sense perception of sound, and muscle contraction, areas that are potentially related to cetacean adaptations. In contrast, we did not find a similar pattern in the cow, a closely related species. We resequenced some of the positively selected sites (PSSs), within the positively selected genes, and showed that most of our identified PSSs (50/52) could be replicated. The results from this study should have important implications for our understanding of cetacean evolution and their adaptations to the aquatic environment. PMID:23246795

  10. Landmark perception planning for mobile robot localization

    Armingol, José M.; Moreno, Luis; Escalera, Arturo de la; Salichs, Miguel A.

    1998-01-01

    This paper presents a fuzzy perception planner that takes into account the time cost, the suitability of every landmark detection and the different uncertainties the robot encounters along its path for mobile robot localization. The sensor used is a camera with a motorized zoom on a pan & tilt platform and the artificial landmarks are circles detected through normalized grayscale correlation. An Extended Kalman Filter is used to correct the position and orientation of the vehicle. The resulti...

  11. A Scan for Positively Selected Genes in the Genomes of Humans and Chimpanzees

    Nielsen, Rasmus; Bustamente, Carlos; Clark, Andrew G.;

    2005-01-01

    Since the divergence of humans and chimpanzees about 5 million years ago, these species have undergone a remarkable evolution with drastic divergence in anatomy and cognitive abilities. At the molecular level, despite the small overall magnitude of DNA sequence divergence, we might expect such...... evolutionary changes to leave a noticeable signature throughout the genome. We here compare 13,731 annotated genes from humans to their chimpanzee orthologs to identify genes that show evidence of positive selection. Many of the genes that present a signature of positive selection tend to be involved in...

  12. A scan for positively selected genes in the genomes of humans and chimpanzees.

    Rasmus Nielsen

    2005-06-01

    Full Text Available Since the divergence of humans and chimpanzees about 5 million years ago, these species have undergone a remarkable evolution with drastic divergence in anatomy and cognitive abilities. At the molecular level, despite the small overall magnitude of DNA sequence divergence, we might expect such evolutionary changes to leave a noticeable signature throughout the genome. We here compare 13,731 annotated genes from humans to their chimpanzee orthologs to identify genes that show evidence of positive selection. Many of the genes that present a signature of positive selection tend to be involved in sensory perception or immune defenses. However, the group of genes that show the strongest evidence for positive selection also includes a surprising number of genes involved in tumor suppression and apoptosis, and of genes involved in spermatogenesis. We hypothesize that positive selection in some of these genes may be driven by genomic conflict due to apoptosis during spermatogenesis. Genes with maximal expression in the brain show little or no evidence for positive selection, while genes with maximal expression in the testis tend to be enriched with positively selected genes. Genes on the X chromosome also tend to show an elevated tendency for positive selection. We also present polymorphism data from 20 Caucasian Americans and 19 African Americans for the 50 annotated genes showing the strongest evidence for positive selection. The polymorphism analysis further supports the presence of positive selection in these genes by showing an excess of high-frequency derived nonsynonymous mutations.

  13. A genome-wide scan for common alleles affecting risk for autism.

    Anney, Richard

    2010-10-15

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner\\'s curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

  14. Genome-wide association scan suggests basis for microtia in Awassi sheep.

    Jawasreh, K; Boettcher, P J; Stella, A

    2016-08-01

    Hereditary underdevelopment of the ear, a condition also known as microtia, has been observed in several sheep breeds as well as in humans and other species. Its genetic basis in sheep is unknown. The Awassi sheep, a breed native to southwest Asia, carries this phenotype and was targeted for molecular characterization via a genome-wide association study. DNA samples were collected from sheep in Jordan. Eight affected and 12 normal individuals were genotyped with the Illumina OvineSNP50(®) chip. Multilocus analyses failed to identify any genotypic association. In contrast, a single-locus analysis revealed a statistically significant association (P = 0.012, genome-wide) with a SNP at basepair 34 647 499 on OAR23. This marker is adjacent to the gene encoding transcription factor GATA-6, which has been shown to play a role in many developmental processes, including chondrogenesis. The lack of extended homozygosity in this region suggests a fairly ancient mutation, and the time of occurrence was estimated to be approximately 3000 years ago. Many of the earless sheep breeds may thus share the causative mutation, especially within the subgroup of fat-tailed, wool sheep. PMID:26990958

  15. A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study

    Li, Jian-Liang; Hayden, Michael R.; Almqvist, Elisabeth W.; Brinkman, Ryan R; Durr, Alexandra; Dodé, Catherine; Morrison, Patrick J.; Suchowersky, Oksana; Ross, Christopher A.; Margolis, Russell L.; Rosenblatt, Adam; Gómez-Tortosa, Estrella; Cabrero, David Mayo; Novelletto, Andrea; Frontali, Marina

    2003-01-01

    Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h2=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), ...

  16. Quantitative linkage genome scan for atopy in a large collection of Caucasian families

    Webb, BT; van den Oord, E; Akkari, A;

    2007-01-01

    adulthood, asthma is frequently associated also with quantitative measures of atopy. Genome wide quantitative multipoint linkage analysis was conducted for serum IgE levels and percentage of positive skin prick test (SPT(per)) using three large groups of families originally ascertained for asthma. In this...... report, 438 and 429 asthma families were informative for linkage using IgE and SPT(per) which represents 690 independent families. Suggestive linkage (LOD >/= 2) was found on chromosomes 1, 3, and 8q with maximum LODs of 2.34 (IgE), 2.03 (SPT(per)), and 2.25 (IgE) near markers D1S1653, D3S2322-D3S1764...

  17. A genome-wide association scan in pig identifies novel regions associated with feed efficiency trait

    Sahana, Goutam; Kadlecová, Veronika; Hornshøj, Henrik;

    2013-01-01

    Feed conversion ratio (FCR) is an economically important trait in pigs and feed accounts for a significant proportion of the costs involved in pig production. In this study we used a high density SNP chip panel, Porcine SNP60 BeadChip, to identify association between FCR and SNP markers and to......,071 Duroc pigs had both FCR data and genotype data. The linkage disequilibrium (r2) between adjacent markers was 0.56. Two association mapping approaches were used: linear mixed model (LMM) based on single locus regression analysis and a Bayesian variable selection approach (BVS). A total of 79 significant...... (p < 0.0001) SNP associations on six chromosomes were identified by LMM analyses. Out of these, ten SNPs crossed the genome-wide significance threshold. These ten SNPs were all located on the chromosomes 4 and 14. In the BVS analysis, a total of 44 SNPs located on 12 chromosomes had posterior...

  18. A genome-wide scan in affected sibling pairs with idiopathic recurrent miscarriage suggests genetic linkage

    Kolte, Astrid Marie; Nielsen, H S; Moltke, Ida;

    2011-01-01

    Previously, siblings of patients with idiopathic recurrent miscarriage (IRM) have been shown to have a higher risk of miscarriage. This study comprises two parts: (i) an epidemiological part, in which we introduce data on the frequency of miscarriage among 268 siblings of 244 patients with IRM and...... (ii) a genetic part presenting data from a genome-wide linkage study of 38 affected sibling pairs with IRM. All IRM patients (probands) had experienced three or more miscarriages and affected siblings two or more miscarriages. The sibling pairs were genotyped by the Affymetrix GeneChip 50K Xba......I platform and non-parametric linkage analysis was performed via the software package Merlin. We find that siblings of IRM patients exhibit a higher frequency of miscarriage than population controls regardless of age at the time of pregnancy. We identify chromosomal regions with LOD scores between 2.5 and 3...

  19. High Resolution Genomic Scans Reveal Genetic Architecture Controlling Alcohol Preference in Bidirectionally Selected Rat Model.

    Lo, Chiao-Ling; Lossie, Amy C; Liang, Tiebing; Liu, Yunlong; Xuei, Xiaoling; Lumeng, Lawrence; Zhou, Feng C; Muir, William M

    2016-08-01

    Investigations on the influence of nature vs. nurture on Alcoholism (Alcohol Use Disorder) in human have yet to provide a clear view on potential genomic etiologies. To address this issue, we sequenced a replicated animal model system bidirectionally-selected for alcohol preference (AP). This model is uniquely suited to map genetic effects with high reproducibility, and resolution. The origin of the rat lines (an 8-way cross) resulted in small haplotype blocks (HB) with a corresponding high level of resolution. We sequenced DNAs from 40 samples (10 per line of each replicate) to determine allele frequencies and HB. We achieved ~46X coverage per line and replicate. Excessive differentiation in the genomic architecture between lines, across replicates, termed signatures of selection (SS), were classified according to gene and region. We identified SS in 930 genes associated with AP. The majority (50%) of the SS were confined to single gene regions, the greatest numbers of which were in promoters (284) and intronic regions (169) with the least in exon's (4), suggesting that differences in AP were primarily due to alterations in regulatory regions. We confirmed previously identified genes and found many new genes associated with AP. Of those newly identified genes, several demonstrated neuronal function involved in synaptic memory and reward behavior, e.g. ion channels (Kcnf1, Kcnn3, Scn5a), excitatory receptors (Grin2a, Gria3, Grip1), neurotransmitters (Pomc), and synapses (Snap29). This study not only reveals the polygenic architecture of AP, but also emphasizes the importance of regulatory elements, consistent with other complex traits. PMID:27490364

  20. Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q

    Velculescu Victor E

    2008-04-01

    Full Text Available Abstract Background Colorectal cancer is one of the most common causes of cancer-related mortality. The disease is clinically and genetically heterogeneous though a strong hereditary component has been identified. However, only a small proportion of the inherited susceptibility can be ascribed to dominant syndromes, such as Hereditary Non-Polyposis Colorectal Cancer (HNPCC or Familial Adenomatous Polyposis (FAP. In an attempt to identify novel colorectal cancer predisposing genes, we have performed a genome-wide linkage analysis in 30 Swedish non-FAP/non-HNPCC families with a strong family history of colorectal cancer. Methods Statistical analysis was performed using multipoint parametric and nonparametric linkage. Results Parametric analysis under the assumption of locus homogeneity excluded any common susceptibility regions harbouring a predisposing gene for colorectal cancer. However, several loci on chromosomes 2q, 3q, 6q, and 7q with suggestive linkage were detected in the parametric analysis under the assumption of locus heterogeneity as well as in the nonparametric analysis. Among these loci, the locus on chromosome 3q21.1-q26.2 was the most consistent finding providing positive results in both parametric and nonparametric analyses Heterogeneity LOD score (HLOD = 1.90, alpha = 0.45, Non-Parametric LOD score (NPL = 2.1. Conclusion The strongest evidence of linkage was seen for the region on chromosome 3. Interestingly, the same region has recently been reported as the most significant finding in a genome-wide analysis performed with SNP arrays; thus our results independently support the finding on chromosome 3q.

  1. Evolutionary change driven by metal exposure as revealed by coding SNP genome scan in wild yellow perch (Perca flavescens).

    Bélanger-Deschênes, Sébastien; Couture, Patrice; Campbell, Peter G C; Bernatchez, Louis

    2013-07-01

    Pollution can drive rapid evolutionary change in wild populations. This study targets functional polymorphisms of chronically metal-contaminated wild yellow perch (Perca flavescens). A de novo transcriptome scan contrasted subsets of individuals from clean (n = 16) and contaminated (n = 16) lakes to identify 87 candidate annotated coding SNPs. Candidate genotypes and liver [metal] were obtained in 10 populations (n = 1,052) and a genome scan distinguished outliers: one nuclear (cyclin G1 gene) and two mitochondrial (cytochrome b and NADH dehydrogenase subunit 2 genes) also displaying allelic correlation to mean population [cadmium]. Whole mtDNA and 17 kb surrounding cyclin G1 were characterised through 454 sequencing thus revealing two non-synonymous substitutions involving dissimilar amino acids. Based on associated functions and inter-population differentiation, contaminated perch may have been selected for fast life cycle completion (p53 pathway) and memorization impairment mitigation (long-term potentiation pathway). In accordance with predicted evolutionary trajectory for stressed and energy deprived organisms, adapted perch would not compensate for repair mechanism inhibition, instead reallocating energy towards growth and favouring inexpensive impairment mitigation adaptations over costly detoxification. Overall, 85 years of selection could have driven rapid, potentially adaptive evolution by selecting alleles increasing perch fitness in polluted environments. PMID:23722603

  2. Photocephalometry: errors of projection and landmark location.

    Phillips, C; Greer, J; Vig, P; Matteson, S

    1984-09-01

    A method called photocephalometry was recently described for the possible soft-tissue evaluation of orthognathic surgery patients by the superimposition of coordinated cephalographs and photographs. A grid analysis was performed to determine the accuracy of the superimposition method. In addition, the reliability of landmark identification was analyzed by the method error of Baumrind and Frantz, using three replicates of twelve patients' photographs. Comparison of twenty-one grid intervals showed that the magnification of the photographic image for any given grid plane is not correlated to that of the radiographic image. Accurate comparisons between soft- and hard-tissue anatomy by simply superimposing the images are not feasible because of the difference in the enlargement factors between the photographs and x-ray films. As was noted by Baumrind and Frantz, a wide range exists in the variability of estimating the location of landmarks. Sixty-six percent of the lateral photographic landmarks and 57% of the frontal landmarks had absolute mean errors for all twelve patients that were less than or equal to 2.0 mm. In general, the envelope of error for most landmarks was not circular. Although the photocephalometric apparatus as described by Hohl and colleagues does not yield the desired quantitative correlation between hard and soft tissues, valuable quantitative information on soft tissue can be easily obtained with the standardization and replication possible with the camera setup and enlarged photographs. PMID:6591803

  3. Reproducibility of the sella turcica landmark in three dimensions using a sella turcica-specific reference system

    Pittayapat, Pisha; Jacobs, Reinhilde [University Hospitals Leuven, University of Leuven, Leuven (Belgium); Odri, Guillaume A. [Service de Chirurgie Orthopedique et Traumatologique, Centre Hospitalier Regional d' Orleans, Orleans Cedex2 (France); De Faria Vasconcelos, Karla [Dept. of Oral Diagnosis, Division of Oral Radiology, Piracicaba Dental School, University of Campinas, Sao Paulo (Brazil); Willems, Guy [Dept. of Oral Health Sciences, Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven, University of Leuven, Leuven (Belgium); Olszewski, Raphael [Dept. of Oral and Maxillofacial Surgery, Cliniques Universitaires Saint Luc, Universite Catholique de Louvain, Brussels (Belgium)

    2015-03-15

    This study was performed to assess the reproducibility of identifying the sella turcica landmark in a three-dimensional (3D) model by using a new sella-specific landmark reference system. Thirty-two cone-beam computed tomographic scans (3D Accuitomo 170, J. Morita, Kyoto, Japan) were retrospectively collected. The 3D data were exported into the Digital Imaging and Communications in Medicine standard and then imported into the Maxilim software (Medicim NV, Sint-Niklaas, Belgium) to create 3D surface models. Five observers identified four osseous landmarks in order to create the reference frame and then identified two sella landmarks. The x, y, and z coordinates of each landmark were exported. The observations were repeated after four weeks. Statistical analysis was performed using the multiple paired t-test with Bonferroni correction (intraobserver precision: p<0.005, interobserver precision: p<0.0011). The intraobserver mean precision of all landmarks was <1 mm. Significant differences were found when comparing the intraobserver precision of each observer (p<0.005). For the sella landmarks, the intraobserver mean precision ranged from 0.43±0.34 mm to 0.51±0.46 mm. The intraobserver reproducibility was generally good. The overall interobserver mean precision was <1 mm. Significant differences between each pair of observers for all anatomical landmarks were found (p<0.0011). The interobserver reproducibility of sella landmarks was good, with >50% precision in locating the landmark within 1 mm. A newly developed reference system offers high precision and reproducibility for sella turcica identification in a 3D model without being based on two-dimensional images derived from 3D data.

  4. Deviation of landmarks in accordance with methods of establishing reference planes in three-dimensional facial CT evaluation

    Yoon, Kaeng Won; Yoon, Suk Ja; Kang, Byung Cheol; Kook, Min Suk; Lee, Jae Seo [School of Dentistry, Dental Science Research Institute, Chonnam National University, Gwangju (Korea, Republic of); Kim, Young Hee [Dept. of Oral and Maxillofacial Radiology, Hallym University Sacred Heart Hospital, Anyang (Korea, Republic of); Palomo, Juan Martin [Dept. of Orthodontics, School of Dental Medicine, Case Western Reserve University, Cleveland (Korea, Republic of)

    2014-09-15

    This study aimed to investigate the deviation of landmarks from horizontal or midsagittal reference planes according to the methods of establishing reference planes. Computed tomography (CT) scans of 18 patients who received orthodontic and orthognathic surgical treatment were reviewed. Each CT scan was reconstructed by three methods for establishing three orthogonal reference planes (namely, the horizontal, midsagittal, and coronal reference planes). The horizontal (bilateral porions and bilateral orbitales) and midsagittal (crista galli, nasion, prechiasmatic point, opisthion, and anterior nasal spine) landmarks were identified on each CT scan. Vertical deviation of the horizontal landmarks and horizontal deviation of the midsagittal landmarks were measured. The porion and orbitale, which were not involved in establishing the horizontal reference plane, were found to deviate vertically from the horizontal reference plane in the three methods. The midsagittal landmarks, which were not used for the midsagittal reference plane, deviated horizontally from the midsagittal reference plane in the three methods. In a three-dimensional facial analysis, the vertical and horizontal deviations of the landmarks from the horizontal and midsagittal reference planes could vary depending on the methods of establishing reference planes.

  5. A genome scan for quantitative trait loci affecting the Salmonella carrier-state in the chicken

    Bumstead Nat

    2005-09-01

    Full Text Available Abstract Selection for increased resistance to Salmonella colonisation and excretion could reduce the risk of foodborne Salmonella infection. In order to identify potential loci affecting resistance, differences in resistance were identified between the N and 61 inbred lines and two QTL research performed. In an F2 cross, the animals were inoculated at one week of age with Salmonella enteritidis and cloacal swabs were carried out 4 and 5 wk post inoculation (thereafter called CSW4F2 and CSW4F2 and caecal contamination (CAECF2 was assessed 1 week later. The animals from the (N × 61 × N backcross were inoculated at six weeks of age with Salmonella typhimurium and cloacal swabs were studied from wk 1 to 4 (thereafter called CSW1BC to CSW4BC. A total of 33 F2 and 46 backcross progeny were selectively genotyped for 103 and 135 microsatellite markers respectively. The analysis used least-squares-based and non-parametric interval mapping. Two genome-wise significant QTL were observed on Chromosome 1 for CSW2BC and on Chromosome 2 for CSW4F2, and four suggestive QTL for CSW5F2 on Chromosome 2, for CSW5F2 and CSW2BC on chromosome 5 and for CAECF2 on chromosome 16. These results suggest new regions of interest and the putative role of SAL1.

  6. Univariate/multivariate genome-wide association scans using data from families and unrelated samples.

    Lei Zhang

    Full Text Available As genome-wide association studies (GWAS are becoming more popular, two approaches, among others, could be considered in order to improve statistical power for identifying genes contributing subtle to moderate effects to human diseases. The first approach is to increase sample size, which could be achieved by combining both unrelated and familial subjects together. The second approach is to jointly analyze multiple correlated traits. In this study, by extending generalized estimating equations (GEEs, we propose a simple approach for performing univariate or multivariate association tests for the combined data of unrelated subjects and nuclear families. In particular, we correct for population stratification by integrating principal component analysis and transmission disequilibrium test strategies. The proposed method allows for multiple siblings as well as missing parental information. Simulation studies show that the proposed test has improved power compared to two popular methods, EIGENSTRAT and FBAT, by analyzing the combined data, while correcting for population stratification. In addition, joint analysis of bivariate traits has improved power over univariate analysis when pleiotropic effects are present. Application to the Genetic Analysis Workshop 16 (GAW16 data sets attests to the feasibility and applicability of the proposed method.

  7. Desert ants learn vibration and magnetic landmarks.

    Cornelia Buehlmann

    Full Text Available The desert ants Cataglyphis navigate not only by path integration but also by using visual and olfactory landmarks to pinpoint the nest entrance. Here we show that Cataglyphis noda can additionally use magnetic and vibrational landmarks as nest-defining cues. The magnetic field may typically provide directional rather than positional information, and vibrational signals so far have been shown to be involved in social behavior. Thus it remains questionable if magnetic and vibration landmarks are usually provided by the ants' habitat as nest-defining cues. However, our results point to the flexibility of the ants' navigational system, which even makes use of cues that are probably most often sensed in a different context.

  8. Genome-wide linkage scan for factors of metabolic syndrome in a Chinese population

    Chan Juliana CN

    2010-02-01

    Full Text Available Abstract Background Shared genetic factors may contribute to the phenotypic clustering of different components of the metabolic syndrome (MES. This study aims to identify genetic loci that contribute to individual or multiple factors related to MES. Results We studied 478 normoglycemic subjects ascertained through 163 families participating in the Hong Kong Family Diabetes Study. Factor analysis on 15 MES-related traits yielded 6 factors including adiposity factor (body mass index, waist and hip circumferences, insulin factor (fasting insulin and insulin AUC during OGTT, glucose factor (fasting glucose and glucose AUC during OGTT, TC-LDLC factor (total cholesterol and LDL-cholesterol, blood pressure factor (systolic and diastolic blood pressure and TG-HDLC factor (triglycerides and HDL-cholesterol. Genome-wide linkage analyses were performed on these factors using variance component approach. Suggestive evidence for linkage (LOD = 1.24 - 2.46 were observed for adiposity factor (chromosome 1 at 187 cM, chromosome 9 at 34 cM and chromosome 17 at 10 cM, insulin factor (chromosome 2 at 128 cM, chromosome 5 at 21 cM and chromosome 12 at 7 cM, glucose factor (chromosome 7 at 155 cM, TC-LDLC factor (chromosome 7 at 151 cM and chromosome 13 at 15 cM and TG-HDLC factor (chromosome 7 at 155 cM. Conclusions In summary, our findings suggest the presence of susceptibility loci that influence either single (chromosomes 1, 2, 5, 9, 12, 13 and 17 or multiple factors (chromosome 7 for MES in Hong Kong Chinese without diabetes.

  9. TINA manual landmarking tool: software for the precise digitization of 3D landmarks

    Schunke Anja C

    2012-04-01

    Full Text Available Abstract Background Interest in the placing of landmarks and subsequent morphometric analyses of shape for 3D data has increased with the increasing accessibility of computed tomography (CT scanners. However, current computer programs for this task suffer from various practical drawbacks. We present here a free software tool that overcomes many of these problems. Results The TINA Manual Landmarking Tool was developed for the digitization of 3D data sets. It enables the generation of a modifiable 3D volume rendering display plus matching orthogonal 2D cross-sections from DICOM files. The object can be rotated and axes defined and fixed. Predefined lists of landmarks can be loaded and the landmarks identified within any of the representations. Output files are stored in various established formats, depending on the preferred evaluation software. Conclusions The software tool presented here provides several options facilitating the placing of landmarks on 3D objects, including volume rendering from DICOM files, definition and fixation of meaningful axes, easy import, placement, control, and export of landmarks, and handling of large datasets. The TINA Manual Landmark Tool runs under Linux and can be obtained for free from http://www.tina-vision.net/tarballs/.

  10. Genome-wide scan for visceral leishmaniasis in mixed-breed dogs identifies candidate genes involved in T helper cells and macrophage signaling

    We conducted a genome-wide scan for visceral leishmaniasis in mixed-breed dogs from a highly endemic area in Brazil using 149,648 single nucleotide polymorphism (SNP) markers genotyped in 20 cases and 28 controls. Using a mixed model approach, we found two candidate loci on canine autosomes 1 and 2....

  11. A Genome Scan to Detect Quantitative Trait Loci for Economically Important Traits in Holstein Cattle Using Two Methods and a Dense Single Nucleotide Polymorphism Map

    Daetwyler, H.D.; Schenkel, F.S.; Sargolzaei, M.; Robinson, J.A.B.

    2008-01-01

    Genome scans for detection of bovine quantitative trait loci (QTL) were performed via variance component linkage analysis and linkage disequilibrium single-locus regression (LDRM). Four hundred eighty-four Holstein sires, of which 427 were from 10 grandsire families, were genotyped for 9,919 single

  12. Genome scan identifies a locus affecting gamma-globin expression in human beta-cluster YAC transgenic mice

    Lin, S.D.; Cooper, P.; Fung, J.; Weier, H.U.G.; Rubin, E.M.

    2000-03-01

    Genetic factors affecting post-natal g-globin expression - a major modifier of the severity of both b-thalassemia and sickle cell anemia, have been difficult to study. This is especially so in mice, an organism lacking a globin gene with an expression pattern equivalent to that of human g-globin. To model the human b-cluster in mice, with the goal of screening for loci affecting human g-globin expression in vivo, we introduced a human b-globin cluster YAC transgene into the genome of FVB mice . The b-cluster contained a Greek hereditary persistence of fetal hemoglobin (HPFH) g allele resulting in postnatal expression of human g-globin in transgenic mice. The level of human g-globin for various F1 hybrids derived from crosses between the FVB transgenics and other inbred mouse strains was assessed. The g-globin level of the C3HeB/FVB transgenic mice was noted to be significantly elevated. To map genes affecting postnatal g-globin expression, a 20 centiMorgan (cM) genome scan of a C3HeB/F VB transgenics [prime] FVB backcross was performed, followed by high-resolution marker analysis of promising loci. From this analysis we mapped a locus within a 2.2 cM interval of mouse chromosome 1 at a LOD score of 4.2 that contributes 10.4% of variation in g-globin expression level. Combining transgenic modeling of the human b-globin gene cluster with quantitative trait analysis, we have identified and mapped a murine locus that impacts on human g-globin expression in vivo.

  13. Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.

    Angelo Scuteri

    2007-07-01

    Full Text Available The obesity epidemic is responsible for a substantial economic burden in developed countries and is a major risk factor for type 2 diabetes and cardiovascular disease. The disease is the result not only of several environmental risk factors, but also of genetic predisposition. To take advantage of recent advances in gene-mapping technology, we executed a genome-wide association scan to identify genetic variants associated with obesity-related quantitative traits in the genetically isolated population of Sardinia. Initial analysis suggested that several SNPs in the FTO and PFKP genes were associated with increased BMI, hip circumference, and weight. Within the FTO gene, rs9930506 showed the strongest association with BMI (p = 8.6 x10(-7, hip circumference (p = 3.4 x 10(-8, and weight (p = 9.1 x 10(-7. In Sardinia, homozygotes for the rare "G" allele of this SNP (minor allele frequency = 0.46 were 1.3 BMI units heavier than homozygotes for the common "A" allele. Within the PFKP gene, rs6602024 showed very strong association with BMI (p = 4.9 x 10(-6. Homozygotes for the rare "A" allele of this SNP (minor allele frequency = 0.12 were 1.8 BMI units heavier than homozygotes for the common "G" allele. To replicate our findings, we genotyped these two SNPs in the GenNet study. In European Americans (N = 1,496 and in Hispanic Americans (N = 839, we replicated significant association between rs9930506 in the FTO gene and BMI (p-value for meta-analysis of European American and Hispanic American follow-up samples, p = 0.001, weight (p = 0.001, and hip circumference (p = 0.0005. We did not replicate association between rs6602024 and obesity-related traits in the GenNet sample, although we found that in European Americans, Hispanic Americans, and African Americans, homozygotes for the rare "A" allele were, on average, 1.0-3.0 BMI units heavier than homozygotes for the more common "G" allele. In summary, we have completed a whole genome-association scan for

  14. 75 FR 69120 - National Natural Landmark Designations

    2010-11-10

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF THE INTERIOR... the Interior Dirk Kempthorne designated the following National Natural Landmarks: Big Bone Lick, Boone... administered solely by public agencies; i.e., Federal, State, county or municipal governments. Nearly...

  15. Landmark papers on photorefractive nonlinear optics

    Yeh, Pochi

    1995-01-01

    This book, intended for students, researchers and engineers, is a collection of classic papers on photorefractive nonlinear optics. Included are landmark papers on fundamental photorefractive phenomena, two-wave mixing, four-wave mixing, phase conjugators and resonators, material growth and physics, and applications in image processing, optical storage and optical computing.

  16. Remembered landmarks enhance the precision of path integration

    Shannon O´Leary

    2005-01-01

    Full Text Available When navigating by path integration, knowledge of one’s position becomes increasingly uncertain as one walks from a known location. This uncertainty decreases if one perceives a known landmark location nearby. We hypothesized that remembering landmarks might serve a similar purpose for path integration as directly perceiving them. If this is true, walking near a remembered landmark location should enhance response consistency in path integration tasks. To test this, we asked participants to view a target and then attempt to walk to it without vision. Some participants saw the target plus a landmark during the preview. Compared with no-landmark trials, response consistency nearly doubled when participants passed near the remembered landmark location. Similar results were obtained when participants could audibly perceive the landmark while walking. A control experiment ruled out perceptual context effects during the preview. We conclude that remembered landmarks can enhance path integration even though they are not directly perceived.

  17. TINA manual landmarking tool: software for the precise digitization of 3D landmarks

    Schunke Anja C; Bromiley Paul A; Tautz Diethard; Thacker Neil A

    2012-01-01

    Abstract Background Interest in the placing of landmarks and subsequent morphometric analyses of shape for 3D data has increased with the increasing accessibility of computed tomography (CT) scanners. However, current computer programs for this task suffer from various practical drawbacks. We present here a free software tool that overcomes many of these problems. Results The TINA Manual Landmarking Tool was developed for the digitization of 3D data sets. It enables the generation of a modifi...

  18. Ultrasound of the elbow: A systematic approach using bony landmarks

    The use of bony landmarks can be helpful in performing an ultrasound study of the elbow. We discuss bony landmarks that can be used for evaluation of the common extensor tendon, ulnar collateral ligament and common flexor tendon, coronoid and olecranon fossa, ulnar nerve, and biceps tendon. We discuss bony landmarks for each of these structures.

  19. Landmark Image Retrieval Using Visual Synonyms

    Gavves, E.; Snoek, C.G.M.

    2010-01-01

    In this paper, we consider the incoherence problem of the visual words in bag-of-words vocabularies. Different from existing work, which performs assignment of words based solely on closeness in descriptor space, we focus on identifying pairs of independent, distant words - the visual synonyms - that are still likely to host image patches with similar appearance. To study this problems we focus on landmark images, where we can examine whether image geometry is an appropriate vehicle for detec...

  20. Genome Scan for Loci Predisposing to Anxiety Disorders Using a Novel Multivariate Approach: Strong Evidence for a Chromosome 4 Risk Locus

    Kaabi, Belhassen; Gelernter, Joel; Woods, Scott W.; Goddard, Andrew; Page, Grier P; Elston, Robert C.

    2006-01-01

    We conducted a 10-centimorgan linkage autosomal genome scan in a set of 19 extended American pedigrees (219 subjects) ascertained through probands with panic disorder. Several anxiety disorders—including social phobia, agoraphobia, and simple phobia—in addition to panic disorder segregate in these families. In previous studies of this sample, linkage analyses were based separately on each of the individual categorical affection diagnoses. Given the substantial comorbidity between anxiety diso...

  1. Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

    Huyghe, J.R.; Laer, L. Van; Hendrickx, J.J.;

    2008-01-01

    conducted a genome-wide association as well as a linkage scan with high-density SNP microarrays. Because of the presence of genetic population substructure, association testing was stratified after which evidence was combined by meta-analysis. No association signals reaching genome-wide significance were...... results of a cross-sectional family-based genetic study employing audiometric data. By using principal component analysis, we were able to reduce the dimensionality of this multivariate phenotype while capturing most of the variation and retaining biologically important features of the audiograms. We...... detected. Linkage analysis identified a linkage peak on 8q24.13-q24.22 for a trait correlated to audiogram shape. The signal reached genome-wide significance, as assessed by simulations. This finding represents the first locus for an ARHI trait Udgivelsesdato: 2008/9/12...

  2. The behavioural relevance of landmark texture for honeybee homing

    Laura eDittmar

    2011-04-01

    Full Text Available Honeybees visually pinpoint the location of a food source using landmarks. Studies on the role of visual memories have suggested that bees approach the goal by finding a close match between their current view and a memorized view of the goal location. The most relevant landmark features for this matching process seem to be their retinal positions, the size as defined by their edges, and their colour. Recently, we showed that honeybees can use landmarks that are statically camouflaged, suggesting that motion cues are relevant as well. Currently it is unclear how bees weight these different landmark features when accomplishing navigational tasks, and whether this depends on their saliency. Since natural objects are often distinguished by their texture, we investigate the behavioural relevance and the interplay of the spatial configuration and the texture of landmarks. We show that landmark texture is a feature that bees memorise, and being given the opportunity to identify landmarks by their texture improves the bees’ navigational performance. Landmark texture is weighted more strongly than landmark configuration when it provides the bees with positional information and when the texture is salient. In the vicinity of the landmark honeybees changed their flight behaviour according to its texture.

  3. Electronic and film portal images: a comparison of landmark visibility and review accuracy

    Purpose: To quantitatively compare a scanning liquid ion chamber electronic portal imaging device (SLIC-EPID) and an amorphous silicon flat panel (aSi) EPID with portal film in clinical applications using measures of landmark visibility and treatment review accuracy. Methods and Materials: Six radiation oncologists viewed 39 electronic portal images (EPIs) from the SLIC-EPID, 36 EPIs from the aSi-EPID, and portal films of each of these treatment fields. The physicians rated the clarity of anatomic landmarks in the portal images, and the scores were compared between EPID and film. Nine hundred portal image reviews were performed. EPID and film portal images were acquired with known setup errors in either phantom or cadaver treatments. Physicians identified the errors visually in portal films and with computerized analysis for EPID. Results: There were no statistically significant (p<0.05) differences between film and SLIC-EPID in ratings of landmark clarity. Eleven of 12 landmarks were more visible in aSi-EPID than in film. Translational setup errors were identified with an average accuracy of 2.5 mm in film, compared to 1.5 mm with SLIC-EPID and 1.3 mm with aSi-EPID. Conclusions: Both EPIDs are clinically viable replacements for film, but aSi-EPID represents a significant advancement in image quality over film

  4. Additive and epistatic genome-wide association for growth and ultrasound scan measures of carcass-related traits in Brahman cattle.

    Ali, A A; Khatkar, M S; Kadarmideen, H N; Thomson, P C

    2015-04-01

    Genome-wide association studies are routinely used to identify genomic regions associated with traits of interest. However, this ignores an important class of genomic associations, that of epistatic interactions. A genome-wide interaction analysis between single nucleotide polymorphisms (SNPs) using highly dense markers can detect epistatic interactions, but is a difficult task due to multiple testing and computational demand. However, It is important for revealing complex trait heredity. This study considers analytical methods that detect statistical interactions between pairs of loci. We investigated a three-stage modelling procedure: (i) a model without the SNP to estimate the variance components; (ii) a model with the SNP using variance component estimates from (i), thus avoiding iteration; and (iii) using the significant SNPs from (ii) for genome-wide epistasis analysis. We fitted these three-stage models to field data for growth and ultrasound measures for subcutaneous fat thickness in Brahman cattle. The study demonstrated the usefulness of modelling epistasis in the analysis of complex traits as it revealed extra sources of genetic variation and identified potential candidate genes affecting the concentration of insulin-like growth factor-1 and ultrasound scan measure of fat depth traits. Information about epistasis can add to our understanding of the complex genetic networks that form the fundamental basis of biological systems. PMID:25754883

  5. Efficient and Accurate Indoor Localization Using Landmark Graphs

    Gu, F.; Kealy, A.; Khoshelham, K.; Shang, J.

    2016-06-01

    Indoor localization is important for a variety of applications such as location-based services, mobile social networks, and emergency response. Fusing spatial information is an effective way to achieve accurate indoor localization with little or with no need for extra hardware. However, existing indoor localization methods that make use of spatial information are either too computationally expensive or too sensitive to the completeness of landmark detection. In this paper, we solve this problem by using the proposed landmark graph. The landmark graph is a directed graph where nodes are landmarks (e.g., doors, staircases, and turns) and edges are accessible paths with heading information. We compared the proposed method with two common Dead Reckoning (DR)-based methods (namely, Compass + Accelerometer + Landmarks and Gyroscope + Accelerometer + Landmarks) by a series of experiments. Experimental results show that the proposed method can achieve 73% accuracy with a positioning error less than 2.5 meters, which outperforms the other two DR-based methods.

  6. Navigating virtual mazes : The benefits of audiovisual landmarks

    Werkhoven, P.; Erp, J.B.F. van; Philippi, T.G.

    2014-01-01

    It has been shown that multisensory presentation can improve perception, attention, and object memory compared with unisensory presentation. Consequently, we expect that multisensory presentation of landmarks can improve spatial memory and navigation. In this study we tested the effect of visual, auditory and combined landmark presentations in virtual mazes on spatial memory and spatial navigation. Nineteen participants explored four different virtual mazes consisting of nodes with landmarks ...

  7. The Behavioral Relevance of Landmark Texture for Honeybee Homing

    Laura eDittmar; Martin eEgelhaaf; Wolfgang eStürzl; Norbert eBoeddeker

    2011-01-01

    Honeybees visually pinpoint the location of a food source using landmarks. Studies on the role of visual memories have suggested that bees approach the goal by finding a close match between their current view and a memorized view of the goal location. The most relevant landmark features for this matching process seem to be their retinal positions, the size as defined by their edges, and their colour. Recently, we showed that honeybees can use landmarks that are statically camouflaged, suggest...

  8. Using landmarks to support older people in navigation

    Goodman, J.; Gray, P.D.G.; Khammampad, K.; Brewster, S.

    2004-01-01

    Although landmarks are an integral aspect of navigation, they have rarely been used within electronic navigation aids. This paper describes the design of a pedestrian navigation aid for a handheld computer, which guides the user along a route using photographs of landmarks, together with audio and text instructions that reference these landmarks. This aid was designed with older users in mind who often find their mobility hampered by declines in sensory, cognitive and motor abilities. It was ...

  9. 36 CFR 62.7 - Natural landmark modifications.

    2010-07-01

    ... nationally significant features, professional error in the original designation, or additional landowners... landmark: Loss of integrity of the natural features or professional error in the original designation....

  10. A genome-wide scan of selective sweeps in two broiler chicken lines divergently selected for abdominal fat content

    Zhang Hui

    2012-12-01

    Full Text Available Abstract Background Genomic regions controlling abdominal fatness (AF were studied in the Northeast Agricultural University broiler line divergently selected for AF. In this study, the chicken 60KSNP chip and extended haplotype homozygosity (EHH test were used to detect genome-wide signatures of AF. Results A total of 5357 and 5593 core regions were detected in the lean and fat lines, and 51 and 57 reached a significant level (PRB1, BBS7, MAOA, MAOB, EHBP1, LRP2BP, LRP1B, MYO7A, MYO9A and PRPSAP1, were detected. These genes may be important for AF deposition in chickens. Conclusions We provide a genome-wide map of selection signatures in the chicken genome, and make a contribution to the better understanding the mechanisms of selection for AF content in chickens. The selection for low AF in commercial breeding using this information will accelerate the breeding progress.

  11. Plasmodium falciparum genome-wide scans for positive selection, recombination hot spots and resistance to antimalarial drugs

    Mu, Jianbing; Myers, Rachel A.; Jiang, Hongying; Liu, Shengfa; Ricklefs, Stacy; Waisberg, Michael; Chotivanich, Kesinee; Wilairata, Polrat; Krudsood, Srivicha; White, Nicholas J; Udomsangpetch, Rachanee; Cui, Liwang; Ho, May; Ou, Fengzheng; Li, Haibo

    2010-01-01

    Antimalarial drugs impose strong pressure on Plasmodium falciparum parasites and leave signatures of selection in the parasite genome 1,2. Search for signals of selection may lead to genes encoding drug or immune targets 3. The lack of high-throughput genotyping methods, inadequate knowledge of parasite population history, and time-consuming adaptations of parasites to in vitro culture have hampered genome-wide association studies (GWAS) of parasite traits. Here we report genotyping of DNA fr...

  12. Impact of different anatomical landmarks on registration in imaging-guided radiation for lung cancer

    Objective: To evaluate the impact of different anatomical landmarks on registration in imaging-guided radiation (IGRT) for lung cancer. Methods: For 20 patients with non-small cell lung cancer receiving stereotactic body radiotherapy (SBRT) in Fudan University Cancer Hospital, 100 frames of kilo-voltage cone-beam computed tomography scanning were evaluated in this study. The spine, carina and tumor were selected as landmarks for registration, respectively. Results of registration using different landmarks were documented and compared. Results: The average set-up errors in the left-right, superior inferior and anterior-posterior directions were -0.08 cm ±0.32 cm, -0.16 cm ±0.45 cm and 0.06 cm ±0.23 cm with the spine for registration; 0.06 cm ±0.34 cm, -0.13 cm ±0.45 cm and -0.02 cm±0.23 cm with the carina; and -0.17 cm ±0.25 cm, 0.03 cm ±0.47 cm and 0.15 cm ±0.38 cm with tumor. The registration results between using the carina and tumor as landmarks were statistically significant different (q=4.61, P=0.002; q = 2.23 , P=0.118; q=3.44, P=0.017). The registration results were equal when using the spine and tumor as landmarks (q =1.85, P = 0.195; q = 2.54, P = 0.075; q = 1.89, P=0.185), as well as using the carina and tumor as landmarks (q=2.76, P=0.054; q=0.31, P=0.826; q=1.55, P=0.276). Conclusions: For early stage lung cancer, the spine and tumor can be used equally as registration landmarks in imaging-guided SBRT. The carina is not suggested for its poor reproducible position. (authors)

  13. A Landmark-Free Method for Three-Dimensional Shape Analysis.

    Benjamin J Pomidor

    Full Text Available The tools and techniques used in morphometrics have always aimed to transform the physical shape of an object into a concise set of numerical data for mathematical analysis. The advent of landmark-based morphometrics opened new avenues of research, but these methods are not without drawbacks. The time investment required of trained individuals to accurately landmark a data set is significant, and the reliance on readily-identifiable physical features can hamper research efforts. This is especially true of those investigating smooth or featureless surfaces.In this paper, we present a new method to perform this transformation for data obtained from high-resolution scanning technology. This method uses surface scans, instead of landmarks, to calculate a shape difference metric analogous to Procrustes distance and perform superimposition. This is accomplished by building upon and extending the Iterative Closest Point algorithm. We also explore some new ways this data can be used; for example, we can calculate an averaged surface directly and visualize point-wise shape information over this surface. Finally, we briefly demonstrate this method on a set of primate skulls and compare the results of the new methodology with traditional geometric morphometric analysis.

  14. Anatomical landmarks accurately determine interfractional lymph node shifts during radiotherapy of lung cancer patients

    Background and purpose: Low contrast in the cone-beam computed tomography (CBCT) scans hampers fast online evaluation of interfractional changes in the lymph node position on a daily basis. In this study we have investigated whether high-contrast anatomical landmarks in the vicinity of the nodes may be used as surrogates for the lymph node positions. Materials and methods: Forty lung cancer patients were treated with an online CBCT-based setup strategy involving soft-tissue match on the primary tumor. One hundred and sixteen lymph nodes were delineated separately on the planning-CT scans and categorized according to the lymph node stations. Five anatomical landmarks were selected as surrogate structures and assigned to the individual nodes. In addition, the carina was delineated. Registrations between the planning-CT and the daily CBCTs were performed retrospectively and positional deviations between the nodes and the surrogate structures or the carina were registered. Results: The mean displacement between lymph nodes and surrogate structures was 1.6 mm with systematic/random errors of 0.7/0.7 mm, significantly smaller than the mean displacement between nodes and the carina. Conclusions: The position of the lymph nodes can be evaluated using selected anatomical landmarks on a daily basis using CBCT

  15. Genomic scan of selective sweeps in thin and fat tail sheep breeds for identifying of candidate regions associated with fat deposition

    Moradi Mohammad Hossein

    2012-02-01

    Full Text Available Abstract Background Identification of genomic regions that have been targets of selection for phenotypic traits is one of the most important and challenging areas of research in animal genetics. However, currently there are relatively few genomic regions identified that have been subject to positive selection. In this study, a genome-wide scan using ~50,000 Single Nucleotide Polymorphisms (SNPs was performed in an attempt to identify genomic regions associated with fat deposition in fat-tail breeds. This trait and its modification are very important in those countries grazing these breeds. Results Two independent experiments using either Iranian or Ovine HapMap genotyping data contrasted thin and fat tail breeds. Population differentiation using FST in Iranian thin and fat tail breeds revealed seven genomic regions. Almost all of these regions overlapped with QTLs that had previously been identified as affecting fat and carcass yield traits in beef and dairy cattle. Study of selection sweep signatures using FST in thin and fat tail breeds sampled from the Ovine HapMap project confirmed three of these regions located on Chromosomes 5, 7 and X. We found increased homozygosity in these regions in favour of fat tail breeds on chromosome 5 and X and in favour of thin tail breeds on chromosome 7. Conclusions In this study, we were able to identify three novel regions associated with fat deposition in thin and fat tail sheep breeds. Two of these were associated with an increase of homozygosity in the fat tail breeds which would be consistent with selection for mutations affecting fat tail size several thousand years after domestication.

  16. Genome-wide scan of gastrointestinal nematode resistance in closed Angus population selected for minimized influence of MHC.

    Kim, Eui-Soo; Sonstegard, Tad S; da Silva, Marcos V G B; Gasbarre, Louis C; Van Tassell, Curtis P

    2015-01-01

    Genetic markers associated with parasite indicator traits are ideal targets for study of marker assisted selection aimed at controlling infections that reduce herd use of anthelminthics. For this study, we collected gastrointestinal (GI) nematode fecal egg count (FEC) data from post-weaning animals of an Angus resource population challenged to a 26 week natural exposure on pasture. In all, data from 487 animals was collected over a 16 year period between 1992 and 2007, most of which were selected for a specific DRB1 allele to reduce the influence of potential allelic variant effects of the MHC locus. A genome-wide association study (GWAS) based on BovineSNP50 genotypes revealed six genomic regions located on bovine Chromosomes 3, 5, 8, 15 and 27; which were significantly associated (-log10 p=4.3) with Box-Cox transformed mean FEC (BC-MFEC). DAVID analysis of the genes within the significant genomic regions suggested a correlation between our results and annotation for genes involved in inflammatory response to infection. Furthermore, ROH and selection signature analyses provided strong evidence that the genomic regions associated BC-MFEC have not been affected by local autozygosity or recent experimental selection. These findings provide useful information for parasite resistance prediction for young grazing cattle and suggest new candidate gene targets for development of disease-modifying therapies or future studies of host response to GI parasite infection. PMID:25803687

  17. A genome scan for quantitative trait loci affecting growth-related traits in an F1 family of Asian seabass (Lates calcarifer

    Yue Gen

    2006-10-01

    Full Text Available Abstract Background Body weight and length are economically important traits in foodfish species influenced by quantitative trait loci (QTL and environmental factors. It is usually difficult to dissect the genetic and environmental effects. Asian seabass (Lates calcarifer is an important marine foodfish species with a compact genome (~700 Mb. The recent construction of a first generation linkage map of Asian seabass with 240 microsatellites provides a good opportunity to determine the number and position of QTL, and the magnitude of QTL effects with a genome scan. Results We conducted a genome scan for QTL affecting body weight, standard length and condition factors in an F1 family containing 380 full-sib individuals from a breeding stock by using 97 microsatellites evenly covering 24 chromosomes. Interval mapping and multiple QTL model mapping detected five significant and 27 suggestive QTL on ten linkage groups (LGs. Among the five significant QTL detected, three (qBW2-a, qTL2-a and qSL2-a controlling body weight, total and standard length respectively, were mapped on the same region near Lca287 on LG2, and explained 28.8, 58.9 and 59.7% of the phenotypic variance. The other two QTL affecting body weight, qBW2-b and qBW3, were located on LG2 and 3, and accounted for 6.4 and 8.8% of the phenotypic variance. Suggestive QTL associated with condition factors are located on six different LGs. Conclusion This study presents the first example of QTL detection for growth-related traits in an F1 family of a marine foodfish species. The results presented here will enable further fine-mapping of these QTL for marker-assisted selection of the Asian seabass, eventually identifying individual genes responsible for growth-related traits.

  18. Genome-wide scans of genetic variants for psychophysiological endophenotypes: introduction to this special issue of Psychophysiology.

    Iacono, William G

    2014-12-01

    This special issue addresses the heritability and molecular genetic basis of 17 putative endophenotypes involving resting EEG power, P300 event-related potential amplitude, electrodermal orienting and habituation, antisaccade eye tracking, and affective modulation of the startle eye blink. These measures were collected from approximately 4,900 twins and parents who provided DNA samples through their participation in the Minnesota Twin Family Study. Included are papers that detail the methodology followed, genome-wide association analyses of single nucleotide polymorphisms and genes, analysis of rare variants in the human exome, and a whole genome sequencing study. Also included are 11 articles by leading experts in psychophysiology and genetics that provide perspective and commentary. A final integrative report summarizes findings and addresses issues raised. This introduction provides an overview of the aims and rationale behind these studies. PMID:25387700

  19. Genome-Wide Scan for Bats and Dolphin to Detect Their Genetic Basis for New Locomotive Styles

    Shen, Yong-Yi; Zhou, Wei-ping; Zhou, Tai-Cheng; Zeng, Yan-Ni; Li, Gui-Mei; Irwin, David M.; Zhang, Ya-Ping

    2012-01-01

    For most mammals, running is their major locomotive style, however, cetaceans and bats are two mammalian groups that have independently developed new locomotive styles (swimming and flying) from their terrestrial ancestors. In this study, we used a genome-wide comparative analysis in an attempt to identify the selective imprint of the development of new locomotive styles by cetaceans and bats to adapt to their new ecological niches. We found that an elevated proportion of mitochondrion-associ...

  20. Genome-wide linkage scan for contraction velocity characteristics of knee musculature in the Leuven Genes for Muscular Strength Study

    De Mars, Gunther; Windelinckx, An; Huygens, Wim; Peeters, Maarten W.; Beunen, Gaston P; Aerssens, Jeroen; Vlietinck, Robert; Thomis, Martine A. I.

    2008-01-01

    The torque-velocity relationship is known to be affected by ageing, decreasing its protective role in the prevention of falls. Interindividual variability in this torque-velocity relationship is partly determined by genetic factors (h2: 44–67%). As a first attempt, this genome-wide linkage study aimed to identify chromosomal regions linked to the torque-velocity relationship of the knee flexors and extensors. A selection of 283 informative male siblings (17–36 yr), belonging to 105 families, ...

  1. Visual EKF-SLAM from Heterogeneous Landmarks

    Esparza-Jiménez, Jorge Othón; Devy, Michel; Gordillo, José L.

    2016-01-01

    Many applications require the localization of a moving object, e.g., a robot, using sensory data acquired from embedded devices. Simultaneous localization and mapping from vision performs both the spatial and temporal fusion of these data on a map when a camera moves in an unknown environment. Such a SLAM process executes two interleaved functions: the front-end detects and tracks features from images, while the back-end interprets features as landmark observations and estimates both the landmarks and the robot positions with respect to a selected reference frame. This paper describes a complete visual SLAM solution, combining both point and line landmarks on a single map. The proposed method has an impact on both the back-end and the front-end. The contributions comprehend the use of heterogeneous landmark-based EKF-SLAM (the management of a map composed of both point and line landmarks); from this perspective, the comparison between landmark parametrizations and the evaluation of how the heterogeneity improves the accuracy on the camera localization, the development of a front-end active-search process for linear landmarks integrated into SLAM and the experimentation methodology. PMID:27070602

  2. DETEKSI LANDMARK CITRA WAJAH DENGAN EXTRAKSI FITUR GABOR ANALISA FUZZY

    Resmana Lim

    2003-01-01

    Full Text Available This paper proposes a method that automatically finds human faces as well as its landmark points in color images based on a fuzzy analysis. The proposed approach first uses color information to detect face candidate regions and then uses a fuzzy analysis of the color, shape, symmetry and interior facial features. A deformable Gabor wavelet graph matching is used to locate the facial landmark points describing the face. The latter allows for size and orientation variation since the search for landmark points allows for affine transformations as well as local deformations of the Gabor wavelet graph. The search is performed using a genetic algorithm that is essential because it effectively searches the solution space. Results based on the proposed method are included to verify the effectiveness of the proposed approach. Abstract in Bahasa Indonesia : Paper ini mengusulkan sebuah metode deteksi wajah beserta dengan titik landmarknya pada citra berwarna menggunakan analisa fuzzy. Proses awal menggunakan informasi warna kulit untuk menseleksi calon-calon obyek lantas dilanjukan dengan analisa fuzzy terhadap warna, bentuk, simetri dan fitur/landmark wajah. Proses lokalisasi landmark wajah menggunakan Gabor wavelet graph matching dengan memaksimalkan kemiripan antara landmark wajah model dengan obyek inputan. Proses maksimalisasi kemiripan ini menggunakan algoritma genetika. Hasil-hasil percobaan ditampilkan untuk memberikan gambaran keberhasilan dari metode yang diusulkan. Kata kunci: lokalisasi landmark wajah, analisa fuzzy, graph matching, algoritma genetika, Gabor wavelet.

  3. A genome scan revealed significant associations of growth traits with a major QTL and GHR2 in tilapia

    Feng Liu; Fei Sun; Jun Hong Xia; Jian Li; Gui Hong Fu; Grace Lin; Rong Jian Tu; Zi Yi Wan; Delia Quek; Gen Hua Yue

    2014-01-01

    Growth is an important trait in animal breeding. However, the genetic effects underpinning fish growth variability are still poorly understood. QTL mapping and analysis of candidate genes are effective methods to address this issue. We conducted a genome-wide QTL analysis for growth in tilapia. A total of 10, 7 and 8 significant QTLs were identified for body weight, total length and standard length at 140 dph, respectively. The majority of these QTLs were sex-specific. One major QTL for growt...

  4. DETEKSI LANDMARK CITRA WAJAH DENGAN EXTRAKSI FITUR GABOR ANALISA FUZZY

    Resmana Lim

    2003-01-01

    This paper proposes a method that automatically finds human faces as well as its landmark points in color images based on a fuzzy analysis. The proposed approach first uses color information to detect face candidate regions and then uses a fuzzy analysis of the color, shape, symmetry and interior facial features. A deformable Gabor wavelet graph matching is used to locate the facial landmark points describing the face. The latter allows for size and orientation variation since the search for ...

  5. Indoor monocular mobile robot navigation based on color landmarks

    LUO Yuan; ZHANG Bai-sheng; ZHANG Yi; LI Ling

    2009-01-01

    A robot landmark navigation system based on monocular camera was researched theoretically and experimentally. First the landmark setting and its data structure in programming was given; then the coordinates of them getting by robot and global localization of the robot was described; finally experiments based on Pioneer III mobile robot show that this system can work well at different topographic situation without lose of signposts.

  6. Pigeons combine compass and landmark guidance in familiar route navigation

    Biro, Dora; Freeman, Robin; Meade, Jessica; Roberts, Stephen; Guilford, Tim

    2007-01-01

    How do birds orient over familiar terrain? In the best studied avian species, the homing pigeon (Columba livia), two apparently independent primary mechanisms are currently debated: either memorized visual landmarks provide homeward guidance directly, or birds rely on a compass to home from familiar locations. Using miniature Global Positioning System tracking technology and clock-shift procedures, we set sun-compass and landmark information in conflict, showing that experienced birds can acc...

  7. Single-Copy Nuclear Gene Primers for Streptanthus and Other Brassicaceae from Genomic Scans, Published Data, and ESTs

    N. Ivalú Cacho

    2013-07-01

    Full Text Available Premise of the study: We report 11 primer sets for nine single-copy nuclear genes in Streptanthus and other Thelypodieae (Brassicaceae and their utility at tribal-level and species-level phylogenetics in this poorly resolved group. Methods and Results: We selected regions based on a cross-referenced matrix of previous studies and public Brassica expressed sequence tags. To design primers, we used alignments of low-depth-coverage Illumina sequencing of genomic DNA for two species of Brassica mapped onto Arabidopsis thaliana. We report several primer combinations for five regions that consistently amplified a single band and yielded high-quality sequences for at least 70% of the species assayed, and for four additional regions whose utility might be clade specific. Conclusions: Our primers will be useful in improving resolution at shallow depths across the Thelypodieae, and likely in other Brassicaceae.

  8. Genome-wide linkage scan for contraction velocity characteristics of knee musculature in the Leuven Genes for Muscular Strength Study.

    De Mars, Gunther; Windelinckx, An; Huygens, Wim; Peeters, Maarten W; Beunen, Gaston P; Aerssens, Jeroen; Vlietinck, Robert; Thomis, Martine A I

    2008-09-17

    The torque-velocity relationship is known to be affected by ageing, decreasing its protective role in the prevention of falls. Interindividual variability in this torque-velocity relationship is partly determined by genetic factors (h(2): 44-67%). As a first attempt, this genome-wide linkage study aimed to identify chromosomal regions linked to the torque-velocity relationship of the knee flexors and extensors. A selection of 283 informative male siblings (17-36 yr), belonging to 105 families, was used to conduct a genome-wide SNP-based (Illumina Linkage IVb panel) multipoint linkage analysis for the torque-velocity relationship of the knee flexors and extensors. The strongest evidence for linkage was found at 15q23 for the torque-velocity slope of the knee extensors (TVSE). Other interesting linkage regions with LOD scores >2 were found at 7p12.3 [logarithm of the odds ratio (LOD) = 2.03, P = 0.0011] for the torque-velocity ratio of the knee flexors (TVRF), at 2q14.3 (LOD = 2.25, P = 0.0006) for TVSE, and at 4p14 and 18q23 for the torque-velocity ratio of the knee extensors TVRE (LOD = 2.23 and 2.08; P = 0.0007 and 0.001, respectively). We conclude that many small contributing genes are involved in causing variation in the torque-velocity relationship of the knee flexor and extensor muscles. Several earlier reported candidate genes for muscle strength and muscle mass and new candidates are harbored within or in close vicinity of the linkage regions reported in the present study. PMID:18682575

  9. A genome-wide "pleiotropy scan" does not identify new susceptibility loci for estrogen receptor negative breast cancer.

    Daniele Campa

    Full Text Available Approximately 15-30% of all breast cancer tumors are estrogen receptor negative (ER-. Compared with ER-positive (ER+ disease they have an earlier age at onset and worse prognosis. Despite the vast number of risk variants identified for numerous cancer types, only seven loci have been unambiguously identified for ER-negative breast cancer. With the aim of identifying new susceptibility SNPs for this disease we performed a pleiotropic genome-wide association study (GWAS. We selected 3079 SNPs associated with a human complex trait or disease at genome-wide significance level (P<5 × 10(-8 to perform a secondary analysis of an ER-negative GWAS from the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3, including 1998 cases and 2305 controls from prospective studies. We then tested the top ten associations (i.e. with the lowest P-values using three additional populations with a total sample size of 3509 ER+ cases, 2543 ER- cases and 7031 healthy controls. None of the 3079 selected variants in the BPC3 ER-GWAS were significant at the adjusted threshold. 186 variants were associated with ER- breast cancer risk at a conventional threshold of P<0.05, with P-values ranging from 0.049 to 2.3 × 10(-4. None of the variants reached statistical significance in the replication phase. In conclusion, this study did not identify any novel susceptibility loci for ER-breast cancer using a "pleiotropic approach".

  10. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.

    Adhikari, Kaustubh; Fuentes-Guajardo, Macarena; Quinto-Sánchez, Mirsha; Mendoza-Revilla, Javier; Camilo Chacón-Duque, Juan; Acuña-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Lozano, Rodrigo Barquera; Pérez, Gastón Macín; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Hunemeier, Tábita; Ramallo, Virginia; Silva de Cerqueira, Caio C; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo, Carla; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco M; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Cheeseman, Michael; Rosique, Javier; Bedoya, Gabriel; Rothhammer, Francisco; Headon, Denis; González-José, Rolando; Balding, David; Ruiz-Linares, Andrés

    2016-01-01

    We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion. PMID:27193062

  11. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

    Nicole Soranzo

    2009-04-01

    Full Text Available Recent genome-wide (GW scans have identified several independent loci affecting human stature, but their contribution through the different skeletal components of height is still poorly understood. We carried out a genome-wide scan in 12,611 participants, followed by replication in an additional 7,187 individuals, and identified 17 genomic regions with GW-significant association with height. Of these, two are entirely novel (rs11809207 in CATSPER4, combined P-value = 6.1x10(-8 and rs910316 in TMED10, P-value = 1.4x10(-7 and two had previously been described with weak statistical support (rs10472828 in NPR3, P-value = 3x10(-7 and rs849141 in JAZF1, P-value = 3.2x10(-11. One locus (rs1182188 at GNA12 identifies the first height eQTL. We also assessed the contribution of height loci to the upper- (trunk and lower-body (hip axis and femur skeletal components of height. We find evidence for several loci associated with trunk length (including rs6570507 in GPR126, P-value = 4x10(-5 and rs6817306 in LCORL, P-value = 4x10(-4, hip axis length (including rs6830062 at LCORL, P-value = 4.8x10(-4 and rs4911494 at UQCC, P-value = 1.9x10(-4, and femur length (including rs710841 at PRKG2, P-value = 2.4x10(-5 and rs10946808 at HIST1H1D, P-value = 6.4x10(-6. Finally, we used conditional analyses to explore a possible differential contribution of the height loci to these different skeletal size measurements. In addition to validating four novel loci controlling adult stature, our study represents the first effort to assess the contribution of genetic loci to three skeletal components of height. Further statistical tests in larger numbers of individuals will be required to verify if the height loci affect height preferentially through these subcomponents of height.

  12. Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.

    Stephan Weidinger

    2008-08-01

    Full Text Available High levels of serum IgE are considered markers of parasite and helminth exposure. In addition, they are associated with allergic disorders, play a key role in anti-tumoral defence, and are crucial mediators of autoimmune diseases. Total IgE is a strongly heritable trait. In a genome-wide association study (GWAS, we tested 353,569 SNPs for association with serum IgE levels in 1,530 individuals from the population-based KORA S3/F3 study. Replication was performed in four independent population-based study samples (total n = 9,769 individuals. Functional variants in the gene encoding the alpha chain of the high affinity receptor for IgE (FCER1A on chromosome 1q23 (rs2251746 and rs2427837 were strongly associated with total IgE levels in all cohorts with P values of 1.85 x 10(-20 and 7.08 x 10(-19 in a combined analysis, and in a post-hoc analysis showed additional associations with allergic sensitization (P = 7.78 x 10(-4 and P = 1.95 x 10(-3. The "top" SNP significantly influenced the cell surface expression of FCER1A on basophils, and genome-wide expression profiles indicated an interesting novel regulatory mechanism of FCER1A expression via GATA-2. Polymorphisms within the RAD50 gene on chromosome 5q31 were consistently associated with IgE levels (P values 6.28 x 10(-7-4.46 x 10(-8 and increased the risk for atopic eczema and asthma. Furthermore, STAT6 was confirmed as susceptibility locus modulating IgE levels. In this first GWAS on total IgE FCER1A was identified and replicated as new susceptibility locus at which common genetic variation influences serum IgE levels. In addition, variants within the RAD50 gene might represent additional factors within cytokine gene cluster on chromosome 5q31, emphasizing the need for further investigations in this intriguing region. Our data furthermore confirm association of STAT6 variation with serum IgE levels.

  13. AFLP genome scan in the black rat (Rattus rattus) from Madagascar: detecting genetic markers undergoing plague-mediated selection.

    Tollenaere, C; Duplantier, J-M; Rahalison, L; Ranjalahy, M; Brouat, C

    2011-03-01

    The black rat (Rattus rattus) is the main reservoir of plague (Yersinia pestis infection) in Madagascar's rural zones. Black rats are highly resistant to plague within the plague focus (central highland), whereas they are susceptible where the disease is absent (low altitude zone). To better understand plague wildlife circulation and host evolution in response to a highly virulent pathogen, we attempted to determine genetic markers associated with plague resistance in this species. To this purpose, we combined a population genomics approach and an association study, both performed on 249 AFLP markers, in Malagasy R. rattus. Simulated distributions of genetic differentiation were compared to observed data in four independent pairs, each consisting of one population from the plague focus and one from the plague-free zone. We found 22 loci (9% of 249) with higher differentiation in at least two independent population pairs or with combining P-values over the four pairs significant. Among the 22 outlier loci, 16 presented significant association with plague zone (plague focus vs. plague-free zone). Population genetic structure inferred from outlier loci was structured by plague zone, whereas the neutral loci dataset revealed structure by geography (eastern vs. western populations). A phenotype association study revealed that two of the 22 loci were significantly associated with differentiation between dying and surviving rats following experimental plague challenge. The 22 outlier loci identified in this study may undergo plague selective pressure either directly or more probably indirectly due to hitchhiking with selected loci. PMID:20444082

  14. Genome-wide scan for bats and dolphin to detect their genetic basis for new locomotive styles.

    Yong-Yi Shen

    Full Text Available For most mammals, running is their major locomotive style, however, cetaceans and bats are two mammalian groups that have independently developed new locomotive styles (swimming and flying from their terrestrial ancestors. In this study, we used a genome-wide comparative analysis in an attempt to identify the selective imprint of the development of new locomotive styles by cetaceans and bats to adapt to their new ecological niches. We found that an elevated proportion of mitochondrion-associated genes show evidence of adaptive evolution in cetaceans and on the common ancestral lineage leading to bats, compared to other terrestrial mammals. This result is consistent with the fact that during the independent developments of swimming and flying in these two groups, the changes of energy metabolism ratios would be among the most important factors to overcome elevated energy demands. Furthermore, genes that show evidence of sequence convergence or parallel evolution in these two lineages were overrepresented in the categories of energy metabolism, muscle contraction, heart, and glucose metabolism, genes that perform functions which are essential for locomotion. In conclusion, our analyses showed that on the dolphin and bat lineages, genes associated with locomotion not only both show a greater propensity to adaptively evolve, but also show evidence of sequence convergence, which likely reflects a response to a common requirement during their development of these two drastic locomotive styles.

  15. Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption.

    Pirastu, Nicola; Kooyman, Maarten; Robino, Antonietta; van der Spek, Ashley; Navarini, Luciano; Amin, Najaf; Karssen, Lennart C; Van Duijn, Cornelia M; Gasparini, Paolo

    2016-01-01

    Coffee is one of the most consumed beverages world-wide and one of the primary sources of caffeine intake. Given its important health and economic impact, the underlying genetics of its consumption has been widely studied. Despite these efforts, much has still to be uncovered. In particular, the use of non-additive genetic models may uncover new information about the genetic variants driving coffee consumption. We have conducted a genome-wide association study in two Italian populations using additive, recessive and dominant models for analysis. This has uncovered a significant association in the PDSS2 gene under the recessive model that has been replicated in an independent cohort from the Netherlands (ERF). The identified gene has been shown to negatively regulate the expression of the caffeine metabolism genes and can thus be linked to coffee consumption. Further bioinformatics analysis of eQTL and histone marks from Roadmap data has evidenced a possible role of the identified SNPs in regulating PDSS2 gene expression through enhancers present in its intron. Our results highlight a novel gene which regulates coffee consumption by regulating the expression of the genes linked to caffeine metabolism. Further studies will be needed to clarify the biological mechanism which links PDSS2 and coffee consumption. PMID:27561104

  16. Asymmetric Introgression in the Horticultural Living Fossil Cycas Sect. Asiorientales Using a Genome-Wide Scanning Approach

    Shong Huang

    2013-04-01

    Full Text Available The Asian cycads are mostly allopatric, distributed in small population sizes. Hybridization between allopatric species provides clues in determining the mechanism of species divergence. Horticultural introduction provides the chance of interspecific gene flow between allopatric species. Two allopatrically eastern Asian Cycas sect. Asiorientales species, C. revoluta and C. taitungensis, which are widely distributed in Ryukyus and Fujian Province and endemic to Taiwan, respectively, were planted in eastern Taiwan for horticultural reason. Higher degrees of genetic admixture in cultivated samples than wild populations in both cycad species were detected based on multilocus scans by neutral AFLP markers. Furthermore, bidirectional but asymmetric introgression by horticultural introduction of C. revoluta is evidenced by the reanalyses of species associated loci, which are assumed to be diverged after species divergence. Partial loci introgressed from native cycad to the invaders were also detected at the loci of strong species association. Consistent results tested by all neutral loci, and the species-associated loci, specify the recent introgression from the paradox of sharing of ancestral polymorphisms. Phenomenon of introgression of cultivated cycads implies niche conservation among two geographic-isolated cycads, even though the habitats of the extant wild populations of two species are distinct.

  17. Wikipedia Entries as a Source of CAR Navigation Landmarks

    Binski, N.; Zhang, L.; Dalyot, S.

    2016-06-01

    Car navigation system devices provide today with an easy and simple solution to the basic concept of reaching a destination. Although these systems usually achieve this goal, they still deliver a limited and poor sequence of instructions that do not consider the human nature of using landmarks during wayfinding. This research paper addresses the concept of enriching navigation route instructions by adding supplementary route information in the form of landmarks. We aim at using a contributed source of landmarks information, which is easy to access, available, show high update rate, and have a large scale of information. For this, Wikipedia was chosen, since it represents the world's largest free encyclopaedia that includes information about many spatial entities. A survey and classification of available landmarks is implemented, coupled with ranking algorithms based on the entries' categories and attributes. These are aimed at retrieving the most relevant landmark information required that are valuable for the enrichment of a specific navigation route. The paper will present this methodology, together with examples and results, showing the feasibility of using this concept and its potential of enriching navigation processes.

  18. WIKIPEDIA ENTRIES AS A SOURCE OF CAR NAVIGATION LANDMARKS

    N. Binski

    2016-06-01

    Full Text Available Car navigation system devices provide today with an easy and simple solution to the basic concept of reaching a destination. Although these systems usually achieve this goal, they still deliver a limited and poor sequence of instructions that do not consider the human nature of using landmarks during wayfinding. This research paper addresses the concept of enriching navigation route instructions by adding supplementary route information in the form of landmarks. We aim at using a contributed source of landmarks information, which is easy to access, available, show high update rate, and have a large scale of information. For this, Wikipedia was chosen, since it represents the world’s largest free encyclopaedia that includes information about many spatial entities. A survey and classification of available landmarks is implemented, coupled with ranking algorithms based on the entries’ categories and attributes. These are aimed at retrieving the most relevant landmark information required that are valuable for the enrichment of a specific navigation route. The paper will present this methodology, together with examples and results, showing the feasibility of using this concept and its potential of enriching navigation processes.

  19. The reliability of tablet computers in depicting maxillofacial radiographic landmarks

    Tadinada, Aditya; Mahdian, Mina; Sheth, Sonam; Chandhoke, Taranpreet K.; Gopalakrishna, Aadarsh; Potluri, Anitha; Yadav, Sumit [University of Connecticut School of Dental Medicine, Farmington (United States)

    2015-09-15

    This study was performed to evaluate the reliability of the identification of anatomical landmarks in panoramic and lateral cephalometric radiographs on a standard medical grade picture archiving communication system (PACS) monitor and a tablet computer (iPad 5). A total of 1000 radiographs, including 500 panoramic and 500 lateral cephalometric radiographs, were retrieved from the de-identified dataset of the archive of the Section of Oral and Maxillofacial Radiology of the University Of Connecticut School Of Dental Medicine. Major radiographic anatomical landmarks were independently reviewed by two examiners on both displays. The examiners initially reviewed ten panoramic and ten lateral cephalometric radiographs using each imaging system, in order to verify interoperator agreement in landmark identification. The images were scored on a four-point scale reflecting the diagnostic image quality and exposure level of the images. Statistical analysis showed no significant difference between the two displays regarding the visibility and clarity of the landmarks in either the panoramic or cephalometric radiographs. Tablet computers can reliably show anatomical landmarks in panoramic and lateral cephalometric radiographs.

  20. The reliability of tablet computers in depicting maxillofacial radiographic landmarks

    This study was performed to evaluate the reliability of the identification of anatomical landmarks in panoramic and lateral cephalometric radiographs on a standard medical grade picture archiving communication system (PACS) monitor and a tablet computer (iPad 5). A total of 1000 radiographs, including 500 panoramic and 500 lateral cephalometric radiographs, were retrieved from the de-identified dataset of the archive of the Section of Oral and Maxillofacial Radiology of the University Of Connecticut School Of Dental Medicine. Major radiographic anatomical landmarks were independently reviewed by two examiners on both displays. The examiners initially reviewed ten panoramic and ten lateral cephalometric radiographs using each imaging system, in order to verify interoperator agreement in landmark identification. The images were scored on a four-point scale reflecting the diagnostic image quality and exposure level of the images. Statistical analysis showed no significant difference between the two displays regarding the visibility and clarity of the landmarks in either the panoramic or cephalometric radiographs. Tablet computers can reliably show anatomical landmarks in panoramic and lateral cephalometric radiographs

  1. Marsupials and monotremes sort genome treasures from junk

    Wakefield, Matthew J.; Graves, Jennifer AM

    2005-01-01

    A recent landmark paper demonstrates the unique contribution of marsupials and monotremes to comparative genome analysis, filling an evolutionary gap between the eutherian mammals (including humans) and more distant vertebrate species.

  2. Quality-Aware Estimation of Facial Landmarks in Video Sequences

    Haque, Mohammad Ahsanul; Nasrollahi, Kamal; Moeslund, Thomas B.

    Face alignment in video is a primitive step for facial image analysis. The accuracy of the alignment greatly depends on the quality of the face image in the video frames and low quality faces are proven to cause erroneous alignment. Thus, this paper proposes a system for quality aware face...... alignment by using a Supervised Decent Method (SDM) along with a motion based forward extrapolation method. The proposed system first extracts faces from video frames. Then, it employs a face quality assessment technique to measure the face quality. If the face quality is high, the proposed system uses SDM...... for facial landmark detection. If the face quality is low the proposed system corrects the facial landmarks that are detected by SDM. Depending upon the face velocity in consecutive video frames and face quality measure, two algorithms are proposed for correction of landmarks in low quality faces by...

  3. MICROSURGICAL LANDMARKS IN MINIMALLY INVASIVE TRANSFORAMINAL LUMBAR INTERBODY FUSION

    Javier Quillo-Olvera

    2015-12-01

    Full Text Available Microsurgical landmarks of the facet joint complex were defined to provide guidance and security within the tubular retractor during transforaminal surgery. A retrospective observational study was performed in segments L4-L5 by the left side approach. Microsurgical relevant photos, anatomical models and drawing were used to expose the suggested landmarks. The MI-TLIF technique has advantages compared with conventional open TLIF technique, however minimally invasive technique implies lack of security for the surgeon due to the lack of defined microanatomical landmarks compared to open spine surgery, and disorientation within the tubular retractor, the reason why to have precise microsurgical references and its recognition within the surgical field provide speed and safety when performing minimally invasive technique.

  4. Spatial Language and Children’s Spatial Landmark Use

    Amber A. Ankowski

    2012-01-01

    Full Text Available We examined how spatial language affected search behavior in a landmark spatial search task. In Experiment 1, two- to six-year-old children were trained to find a toy in the center of a square array of four identical landmarks. Children heard one of three spatial language cues once during the initial training trial (“here,” “in the middle,” “next to this one”. After search performance reached criterion, children received a probe test trial in which the landmark array was expanded. In Experiment 2, two- to four-year-old children participated in the search task and also completed a language comprehension task. Results revealed that children’s spatial language comprehension scores and spatial language cues heard during training trials were related to children’s performance in the search task.

  5. Multirobot FastSLAM Algorithm Based on Landmark Consistency Correction

    Shi-Ming Chen

    2014-01-01

    Full Text Available Considering the influence of uncertain map information on multirobot SLAM problem, a multirobot FastSLAM algorithm based on landmark consistency correction is proposed. Firstly, electromagnetism-like mechanism is introduced to the resampling procedure in single-robot FastSLAM, where we assume that each sampling particle is looked at as a charged electron and attraction-repulsion mechanism in electromagnetism field is used to simulate interactive force between the particles to improve the distribution of particles. Secondly, when multiple robots observe the same landmarks, every robot is regarded as one node and Kalman-Consensus Filter is proposed to update landmark information, which further improves the accuracy of localization and mapping. Finally, the simulation results show that the algorithm is suitable and effective.

  6. Effects of cephalometric landmark validity on incisor angulation.

    Chan, C K; Tng, T H; Hägg, U; Cooke, M S

    1994-11-01

    An experimental cephalometric study on the accuracy of independently locating eight landmarks and the subsequent effects on the maxillary (ILs/NL) and mandibular (ILi/ML) incisor angulation was carried out on 30 dry skulls. The true location of each landmark was marked with a steel ball glued onto the skulls. Two additional steel balls were used as reference markers. A purpose-designed skullholder was made to assure a firm and reproducible positioning of the skulls in the cephalostat. Six series of cephalograms were recorded. One reference series with all the steel balls, four series each with a single steel ball marker removed, one at a time, from each jaw and one series with all the steel ball markers removed, except the reference markers. The combined method error in relocating and replacing the steel ball markers, repositioning the skulls into the skull holder, and digitizing, was low. From the first series, the true position of the palatal plane (NL), the maxillary incisor line (ILs), the mandibular plane (ML) and the mandibular incisor line (ILi) were assessed. From series 2 to 5, each of the landmarks without the steel ball markers was estimated. The accuracy of each landmark was then assessed relative to the true cephalometric plane and its perpendicular. On average, the accuracy was high for all the landmarks except posterior nasal spine (PNS), which was estimated 1.2 mm too far anteriorly (p accuracy of the dental and skeletal landmarks were similar, being 1.4 to 2.4 mm. The maxillary incisors were proclined 1.1 degrees (p < 0.05) by the estimates of incision superior (Is).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7977189

  7. Combining Speedup techniques based on Landmarks and Containers

    R. KALPANA

    2010-09-01

    Full Text Available The Dijkstra’s algorithm [1] , which is applied in many real world problems like mobile routing, road maps, railway networks, etc,. is used to find the shortest path between source and destination. There are many techniques available to speedup the algorithm while guaranteeing the optimality of the solution. The main focus of the work is to implement landmark technique and Containers separately and compare the results with random graphs and planar graphs. The combined speedup technique which is based on landmarks and containers were also experimented with random graphs and planar graphs to improvethe speedup of the shortest path queries.

  8. When genetic distance matters: Measuring genetic differentiation at microsatellite loci in whole-genome scans of recent and incipient mosquito species

    Wang, Rui; Zheng, Liangbiao; Touré, Yeya T.; Dandekar, Thomas; Kafatos, Fotis C.

    2001-01-01

    Genetic distance measurements are an important tool to differentiate field populations of disease vectors such as the mosquito vectors of malaria. Here, we have measured the genetic differentiation between Anopheles arabiensis and Anopheles gambiae, as well as between proposed emerging species of the latter taxon, in whole genome scans by using 23–25 microsatellite loci. In doing so, we have reviewed and evaluated the advantages and disadvantages of standard parameters of genetic distance, FST, RST, (δμ)2, and D. Further, we have introduced new parameters, D′ and DK, which have well defined statistical significance tests and complement the standard parameters to advantage. D′ is a modification of D, whereas DK is a measure of covariance based on Pearson's correlation coefficient. We find that A. gambiae and A. arabiensis are closely related at most autosomal loci but appear to be distantly related on the basis of X-linked chromosomal loci within the chromosomal Xag inversion. The M and S molecular forms of A. gambiae are practically indistinguishable but differ significantly at two microsatellite loci from the proximal region of the X, outside the Xag inversion. At one of these loci, both M and S molecular forms differ significantly from A. arabiensis, but remarkably, at the other locus, A. arabiensis is indistinguishable from the M molecular form of A. gambiae. These data support the recent proposal of genetically differentiated M and S molecular forms of A. gambiae. PMID:11553812

  9. Shared clonal cytogenetic abnormalities in aberrant mast cells and leukemic myeloid blasts detected by single nucleotide polymorphism microarray-based whole-genome scanning.

    Frederiksen, John K; Shao, Lina; Bixby, Dale L; Ross, Charles W

    2016-04-01

    Systemic mastocytosis (SM) is characterized by a clonal proliferation of aberrant mast cells within extracutaneous sites. In a subset of SM cases, a second associated hematologic non-mast cell disease (AHNMD) is also present, usually of myeloid origin. Polymerase chain reaction and targeted fluorescence in situ hybridization studies have provided evidence that, in at least some cases, the aberrant mast cells are related clonally to the neoplastic cells of the AHNMD. In this work, a single nucleotide polymorphism microarray (SNP-A) was used to characterize the cytogenetics of the aberrant mast cells from a patient with acute myeloid leukemia and concomitant mast cell leukemia associated with a KIT D816A mutation. The results demonstrate the presence of shared cytogenetic abnormalities between the mast cells and myeloid blasts, as well as additional abnormalities within mast cells (copy-neutral loss of heterozygosity) not detectable by routine karyotypic analysis. To our knowledge, this work represents the first application of SNP-A whole-genome scanning to the detection of shared cytogenetic abnormalities between the two components of a case of SM-AHNMD. The findings provide additional evidence of a frequent clonal link between aberrant mast cells and cells of myeloid AHNMDs, and also highlight the importance of direct sequencing for identifying uncommon activating KIT mutations. PMID:26865278

  10. "Direct DICOM Slice Landmarking" A Novel Research Technique to Quantify Skeletal Changes in Orthognathic Surgery.

    Anas Almukhtar

    Full Text Available The limitations of the current methods of quantifying the surgical movements of facial bones inspired this study. The aim of this study was the assessment of the accuracy and reproducibility of directly landmarking of 3D DICOM images (Digital Imaging and Communications in Medicine to quantify the changes in the jaw bones following surgery. The study was carried out on plastic skull to simulate the surgical movements of the jaw bones. Cone beam CT scans were taken at 3mm, 6mm, and 9mm maxillary advancement; together with a 2mm, 4mm, 6mm and 8mm "down graft" which in total generated 12 different positions of the maxilla for the analysis. The movements of the maxilla were calculated using two methods, the standard approach where distances between surface landmarks on the jaw bones were measured and the novel approach where measurements were taken directly from the internal structures of the corresponding 3D DICOME slices. A one sample t-test showed that there was no statistically significant difference between the two methods of measurements for the y and z directions, however, the x direction showed a significant difference. The mean difference between the two absolute measurements were 0.34±0.20mm, 0.22±0.16mm, 0.18±0.13mm in the y, z and x directions respectively. In conclusion, the direct landmarking of 3D DICOM image slices is a reliable, reproducible and informative method for assessment of the 3D skeletal changes. The method has a clear clinical application which includes the analysis of the jaw movements "orthognathic surgery" for the correction of facial deformities.

  11. Elections and landmark policies in Tanzania and Uganda

    Kjær, Anne Mette; Therkildsen, Ole

    2013-01-01

    political elites to focus on policies they perceive to be able to gain votes. This is based on analyses of six landmark decisions made during the last fifteen years in the social, productive and public finance sectors in Tanzania and Uganda. Such policies share a number of key characteristics: they are...... Tanzania and Uganda....

  12. Landmark Finding Algorithms for Indoor Autonomous Mobile Robot Localization

    L. Tóth

    2015-12-01

    Full Text Available This contribution is oriented to ways of computer vision algorithms for mobile robot localization in internal and external agricultural environment. The main aim of this work was to design, create, verify and evaluate speed and functionality of computer vision localization algorithm. An input colour camera data and depth data were captured by MS® Kinect sensor that was mounted on 6-wheel-drive mobile robot chassis. The design of the localization algorithm was focused to the most significant blobs and points (landmarks on the colour picture. Actual coordinates of autonomous mobile robot were calculated out from measured distances (depth sensor and calculated angles (RGB camera with respect to landmark points. Time measurement script was used to compare the speed of landmark finding algorithm for localization in case of one and more landmarks on picture. The main source code was written in MS Visual studio C# programming language with Microsoft.Kinect.1.7.dll on Windows based PC. Algorithms described in this article were created for a future development of an autonomous agronomical m obile robot localization and control.

  13. 36 CFR 65.4 - National Historic Landmark criteria.

    2010-07-01

    ... yield information of major scientific importance by revealing new cultures, or by shedding light upon... 36 Parks, Forests, and Public Property 1 2010-07-01 2010-07-01 false National Historic Landmark... United States in history, architecture, archeology, engineering and culture and that possess a...

  14. Adaptive Landmark-Based Navigation System Using Learning Techniques

    Zeidan, Bassel; Dasgupta, Sakyasingha; Wörgötter, Florentin;

    2014-01-01

    . Inspired by this, we develop an adaptive landmark-based navigation system based on sequential reinforcement learning. In addition, correlation-based learning is also integrated into the system to improve learning performance. The proposed system has been applied to simulated simple wheeled and more complex...

  15. An Adaptive Algorithm for Finding Frequent Sets in Landmark Windows

    Dang, Xuan-Hong; Ong, Kok-Leong; Lee, Vincent

    2012-01-01

    We consider a CPU constrained environment for finding approximation of frequent sets in data streams using the landmark window. Our algorithm can detect overload situations, i.e., breaching the CPU capacity, and sheds data in the stream to “keep up”. This is done within a controlled error threshold...

  16. Navigating virtual mazes : The benefits of audiovisual landmarks

    Werkhoven, P.; Erp, J.B.F. van; Philippi, T.G.

    2014-01-01

    It has been shown that multisensory presentation can improve perception, attention, and object memory compared with unisensory presentation. Consequently, we expect that multisensory presentation of landmarks can improve spatial memory and navigation. In this study we tested the effect of visual, au

  17. Audiovisual navigation in virtual mazes : The benefits of audiovisual landmarks

    Werkhoven, Peter; Philippi, Tom; van Erp, J.B.F.

    2014-01-01

    It has been shown that multisensory presentation can improve perception, attention, and object memory compared with unisensory presentation. Consequently, we expect that multisensory presentation of landmarks can improve spatial memory and navigation. In this study we tested the effect of visual, au

  18. Quantitative assessment of regional left ventricular motion using endocardial landmarks

    C.J. Slager (Cornelis); T.E.H. Hooghoudt (Ton); P.W.J.C. Serruys (Patrick); J.C.H. Schuurbiers (Johan); J.H.C. Reiber (Johan); G.T. Meester (Geert); P.D. Verdouw (Pieter); P.G. Hugenholtz (Paul)

    1986-01-01

    textabstractIn this study the hypothesis is tested that the motion pattern of small anatomic landmarks, recognizable at the left ventricular endocardial border in the contrast angiocardiogram, reflects the motion of the endocardial wall. To verify this, minute metal markers were inserted in the endo

  19. A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

    Silvia Naitza

    2012-01-01

    Full Text Available Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate the mechanisms underlying this process. We first conducted a two-stage genome-wide association scan (GWAS for the key inflammatory biomarkers Interleukin-6 (IL-6, the general measure of inflammation erythrocyte sedimentation rate (ESR, monocyte chemotactic protein-1 (MCP-1, and high-sensitivity C-reactive protein (hsCRP in a large cohort of individuals from the founder population of Sardinia. By analysing 731,213 autosomal or X chromosome SNPs and an additional ∼1.9 million imputed variants in 4,694 individuals, we identified several SNPs associated with the selected quantitative trait loci (QTLs and replicated all the top signals in an independent sample of 1,392 individuals from the same population. Next, to increase power to detect and resolve associations, we further genotyped the whole cohort (6,145 individuals for 293,875 variants included on the ImmunoChip and MetaboChip custom arrays. Overall, our combined approach led to the identification of 9 genome-wide significant novel independent signals-5 of which were identified only with the custom arrays-and provided confirmatory evidence for an additional 7. Novel signals include: for IL-6, in the ABO gene (rs657152, p = 2.13×10(-29; for ESR, at the HBB (rs4910472, p = 2.31×10(-11 and UCN119B/SPPL3 (rs11829037, p = 8.91×10(-10 loci; for MCP-1, near its receptor CCR2 (rs17141006, p = 7.53×10(-13 and in CADM3 (rs3026968, p = 7.63×10(-13; for hsCRP, within the CRP gene (rs3093077, p = 5.73×10(-21, near DARC (rs3845624, p = 1.43×10(-10, UNC119B/SPPL3 (rs11829037, p = 1.50×10(-14, and ICOSLG/AIRE (rs113459440, p = 1.54×10(-08 loci. Confirmatory evidence was found for IL-6 in the IL-6R gene (rs4129267; for ESR at CR1 (rs12567990 and TMEM57 (rs10903129; for MCP-1 at DARC (rs12075; and for hsCRP at CRP (rs1205, HNF1A (rs225918, and APOC-I (rs4420638. Our

  20. A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation

    Naitza, Silvia; Porcu, Eleonora; Steri, Maristella; Taub, Dennis D.; Mulas, Antonella; Xiao, Xiang; Strait, James; Dei, Mariano; Lai, Sandra; Busonero, Fabio; Maschio, Andrea; Usala, Gianluca; Zoledziewska, Magdalena; Sidore, Carlo; Zara, Ilenia; Pitzalis, Maristella; Loi, Alessia; Virdis, Francesca; Piras, Roberta; Deidda, Francesca; Whalen, Michael B.; Crisponi, Laura; Concas, Antonio; Podda, Carlo; Uzzau, Sergio; Scheet, Paul; Longo, Dan L.; Lakatta, Edward; Abecasis, Gonçalo R.; Cao, Antonio; Schlessinger, David; Uda, Manuela

    2012-01-01

    Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate the mechanisms underlying this process. We first conducted a two-stage genome-wide association scan (GWAS) for the key inflammatory biomarkers Interleukin-6 (IL-6), the general measure of inflammation erythrocyte sedimentation rate (ESR), monocyte chemotactic protein-1 (MCP-1), and high-sensitivity C-reactive protein (hsCRP) in a large cohort of individuals from the founder population of Sardinia. By analysing 731,213 autosomal or X chromosome SNPs and an additional ∼1.9 million imputed variants in 4,694 individuals, we identified several SNPs associated with the selected quantitative trait loci (QTLs) and replicated all the top signals in an independent sample of 1,392 individuals from the same population. Next, to increase power to detect and resolve associations, we further genotyped the whole cohort (6,145 individuals) for 293,875 variants included on the ImmunoChip and MetaboChip custom arrays. Overall, our combined approach led to the identification of 9 genome-wide significant novel independent signals—5 of which were identified only with the custom arrays—and provided confirmatory evidence for an additional 7. Novel signals include: for IL-6, in the ABO gene (rs657152, p = 2.13×10−29); for ESR, at the HBB (rs4910472, p = 2.31×10−11) and UCN119B/SPPL3 (rs11829037, p = 8.91×10−10) loci; for MCP-1, near its receptor CCR2 (rs17141006, p = 7.53×10−13) and in CADM3 (rs3026968, p = 7.63×10−13); for hsCRP, within the CRP gene (rs3093077, p = 5.73×10−21), near DARC (rs3845624, p = 1.43×10−10), UNC119B/SPPL3 (rs11829037, p = 1.50×10−14), and ICOSLG/AIRE (rs113459440, p = 1.54×10−08) loci. Confirmatory evidence was found for IL-6 in the IL-6R gene (rs4129267); for ESR at CR1 (rs12567990) and TMEM57 (rs10903129); for MCP-1 at DARC (rs12075); and for hsCRP at CRP (rs1205), HNF1A (rs225918), and APOC-I (rs

  1. Visual SLAM for underwater vehicles using video velocity log and natural landmarks

    Salvi, Joaquim; Petillot, Yvan R.; Thomas, Stephen; Aulinas Masó, Josep M.

    2008-01-01

    A visual SLAM system has been implemented and optimised for real-time deployment on an AUV equipped with calibrated stereo cameras. The system incorporates a novel approach to landmark description in which landmarks are local sub maps that consist of a cloud of 3D points and their associated SIFT/SURF descriptors. Landmarks are also sparsely distributed which simplifies and accelerates data association and map updates. In addition to landmark-based localisation the system utilises visual odom...

  2. Somaclonal variation and comparison to mutation induced by X-rays in rice (Oryza sativa L.) by using rice landmarker

    By using rice DNA clones of landmarker set 1, set 2 and new set, RFLP analysis was carried out in plants of cv. Tsugaruotome and cv. Mutsuhomare which were derived from 300 Gy of X-ray-irradiated seeds. In the three landmarker sets were consisted of 106 genomic DNA clones and 235 cDNA clones. Each cultivar has five plants which showed polymorphism. It is considered that the occurrence of some mutation of gene concerned with DNA repairing because certain plants showed polymorphism by many landmarkers as probes. Activity of retrotransposon such as Tos17 and alteration of methylation pattern were not observed on any plants derived from X-ray-irradiated seeds. On the other hand, in plants regenerated from cultured calli, it was found the movement of Tos17 to certain area of hot spot and alteration of methylation pattern. Furthermore, it has been reported that amplification of repeated DNA segment which was not observed in the mutation induced by X-rays. Thus, on plant breeding the somaclonal variation may be more useful than the mutation induced by X-rays

  3. Solving small spaces: investigating the use of landmark cues in brown capuchins (Cebus apella).

    Hughes, Kelly D; Mullo, Enma; Santos, Laurie R

    2013-09-01

    Some researchers have recently argued that humans may be unusual among primates in preferring to use landmark information when reasoning about some kinds of spatial problems. Some have explained this phenomenon by positing that our species' tendency to prefer landmarks stems from a human-unique trait: language. Here, we test this hypothesis-that preferring to use landmarks to solve such tasks is related to language ability-by exploring landmark use in a spatial task in one non-human primate, the brown capuchin monkey (Cebus apella). We presented our subjects with the rotational displacement task, in which subjects attempt to relocate a reward hidden within an array of hiding locations which are subsequently rotated to a new position. Over several experiments, we varied the availability and the salience of a landmark cue within the array. Specifically, we varied (1) visual access to the array during rotation, (2) the type of landmark, (3) the consistency of the landmark qualities, and (4) the amount of exposure to the landmark. Across Experiments 1 through 4, capuchins did not successfully use landmarks cues, suggesting that non-linguistic primates may not spontaneously use landmarks to solve some spatial problems, as in this case of a small-scale dynamic spatial task. Importantly, we also observed that capuchins demonstrated some capacity to learn to use landmarks in Experiment 4, suggesting that non-linguistic creatures may be able to use some landmarks cues in similar spatial tasks with extensive training. PMID:23430144

  4. Audible Signage as a Wayfinding Aid: Verbal Landmark versus Talking Signs.

    Bentzen, B. L.; Mitchell, P. A.

    1995-01-01

    Comparison by 40 users of 2 technologies--Verbal Landmark and Talking Signs--that provide speech messages to hand-held receivers for blind travelers found that, on all measures, the Talking Signs system proved superior to the Verbal Landmark system. This was attributed to Verbal Landmark's more cognitively demanding technology. (DB)

  5. The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes-Related Quantitative-Trait Loci

    Watanabe, Richard M; Ghosh, Soumitra; Langefeld, Carl D.; Valle, Timo T.; Hauser, Elizabeth R; Magnuson, Victoria L.; Mohlke, Karen L.; Silander, Kaisa; Ally, Delphine S.; Chines, Peter; Blaschak-Harvan, Jillian; Douglas, Julie A.; Duren, William L.; Epstein, Michael P.; Fingerlin, Tasha E.

    2000-01-01

    Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes–related quantitative traits in 580 Finnish families ascertained for an affected sibling pair and analyzed by the variance components-based quantitative-trait locus (QTL) linkage approach. We analyzed diabetic and nondiabetic subjects separately, because of the possible impact of disease on the traits of interest. In diabetic individuals, o...

  6. Landmark Analysis Of Leaf Shape Using Polygonal Approximation

    Firmansyah, Zakhi; Herdiyeni, Yeni; Paruhum Silalahi, Bib; Douady, Stephane

    2016-01-01

    This research proposes a method to extract landmark of leaf shape using static threshold of polygonal approximation. Leaf shape analysis has played a central role in many problems in vision and perception. Landmark-based shape analysis is the core of geometric morphometric and has been used as a quantitative tool in evolutionary and developmental biology. In this research, the polygonal approximation is used to select the best points that can represent the leaf shape variability. We used a static threshold as the control parameter of fitting a series of line segment over a digital curve of leaf shape. This research focuses on seven leaf shape, i.e., eliptic, obovate, ovate, oblong and special. Experimental results show static polygonal approximation shows can be used to find the important points of leaf shape.

  7. Insite: Canada's landmark safe injecting program at risk

    Drucker Ernest

    2006-01-01

    Abstract InSite is North Americas first supervised injection site and a landmark public heath initiative operating in Vancouver since 2003. The program is a vital component of that cities internationally recognized harm reduction approach to its serious problems with drugs, crime, homelessness and AIDS. InSite currently operates under a waiver of Federal rules that allow it to provide services as a research project. An extensive evaluation has produced very positive results for thousands of u...

  8. Visual landmarks facilitate rodent spatial navigation in virtual reality environments

    Youngstrom, Isaac A.; Strowbridge, Ben W.

    2012-01-01

    Because many different sensory modalities contribute to spatial learning in rodents, it has been difficult to determine whether spatial navigation can be guided solely by visual cues. Rodents moving within physical environments with visual cues engage a variety of nonvisual sensory systems that cannot be easily inhibited without lesioning brain areas. Virtual reality offers a unique approach to ask whether visual landmark cues alone are sufficient to improve performance in a spatial task. We ...

  9. Detection of point landmarks in multidimensional tensor data☆

    Ruiz-Alzola, J.; Kikinis, R.; Westin, C.-F.

    2001-01-01

    This paper describes a unified approach to the detection of point landmarks—whose neighborhoods convey discriminant information—including multidimensional scalar, vector, and higher-order tensor data. The method is based on the interpretation of generalized correlation matrices derived from the gradient of tensor functions, a probabilistic interpretation of point landmarks, and the application of tensor algebra. Results on both synthetic and real tensor data are presented.

  10. Visual EKF-SLAM from Heterogeneous Landmarks

    Jorge Othón Esparza-Jiménez; Michel Devy; Gordillo, José L.

    2016-01-01

    Many applications require the localization of a moving object, e.g., a robot, using sensory data acquired from embedded devices. Simultaneous localization and mapping from vision performs both the spatial and temporal fusion of these data on a map when a camera moves in an unknown environment. Such a SLAM process executes two interleaved functions: the front-end detects and tracks features from images, while the back-end interprets features as landmark observations and estimates both the land...

  11. The influence of off-screen landmarks on user orientation

    Korda, Amichai

    2014-01-01

    Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies. Maps displayed on hand held devices, such as smartphones; provide limited visibility due to their small screen display. In order to overcome display limitations, researchers have developed new techniques that point users to objects and landmarks located off-screen, which is known as an “off-screen interface”. Since this is a new type of map interface, there is l...

  12. Associative Basis of Landmark Learning and Integration in Vertebrates

    Leising, Kenneth J.; Blaisdell, Aaron P.

    2009-01-01

    Early work on spatial navigation evaluated what stimuli (kinesthetic or extra-maze) support small-scale navigation and the nature of the underlying learning (place versus response) process. Contemporary research has focused primarily on how cues interact to determine spatial search. This review covers three general findings from research on landmark-based spatial search in vertebrates. First, pigeons and rats encode simple spatial maps in both open-field and touchscreen environments. Second, ...

  13. Automatic Registration and Error Detection of Multiple Slices Using Landmarks

    Frimmel, Hans; Egevad, Lars; Busch, Christer; Bengtsson, Ewert

    2001-01-01

    Objectives. When analysing the 3D structure of tissue, serial sectioning and staining of the resulting slices is sometimes the preferred option. This leads to severe registration problems. In this paper, a method for automatic registration and error detection of slices using landmark needles has been developed. A cost function takes some parameters from the current state of the problem to be solved as input and gives a quality of the current solution as output. The cost function used in this ...

  14. Coincident linkage of type 2 diabetes, metabolic syndrome, and measures of cardiovascular disease in a genome scan of the diabetes heart study.

    Bowden, Donald W; Rudock, Megan; Ziegler, Julie; Lehtinen, Allison B; Xu, Jianzhao; Wagenknecht, Lynne E; Herrington, David; Rich, Stephen S; Freedman, Barry I; Carr, J Jeffrey; Langefeld, Carl D

    2006-07-01

    Cardiovascular disease (CVD) is a major contributor to morbidity and mortality in type 2 diabetes, but the relationship between CVD and type 2 diabetes is not well understood. The Diabetes Heart Study is a study of type 2 diabetes-enriched families extensively phenotyped for measures of CVD, type 2 diabetes, and metabolic syndrome. A total of 977 Caucasian subjects from 358 pedigrees (575 type 2 diabetic relative pairs) with at least two individuals with type 2 diabetes and, where possible, unaffected siblings were included in a genome scan. Qualitative traits evaluated in this analysis are with or without the presence of coronary calcified plaque (CCP) and with or without carotid calcified plaque (CarCP) measured by electrocardiogram-gated helical computed tomography. In addition, prevalent CVD was measured using two definitions: CVD1, based on self-reported history of clinical CVD (393 subjects), and CVD2, defined as CVD1 and/or CCP >400 (606 subjects). These discrete traits (type 2 diabetes, metabolic syndrome, CVD1, CVD2, CCP, and CarCP) frequently coincide in the same individuals with concordance ranging from 42.9 to 99%. Multipoint nonparametric linkage analysis revealed evidence for coincident mapping of each trait (type 2 diabetes, metabolic syndrome, CVD1, CVD2, CCP, and CarCP) to three different genomic regions: a broad region on chromosome 3 (70-160 cM; logarithm of odds [LOD] scores ranging between 1.15 and 2.71), chromosome 4q31 (peak LOD 146 cM; LOD scores ranging between 0.90 and 2.41), and on chromosome 14p (peak LOD 23 cM; LOD scores ranging between 1.43 and 2.31). Ordered subset analysis (OSA) suggests that the linked chromosome 3 region consists of at least two separate loci on 3p and 3q. In addition, OSA based on lipid measures and other traits identify family subsets with significantly stronger evidence of linkage (e.g., CVD2 on chromosome 3 at 87 cM subsetting on low HDL with an initial LOD of 2.19 is maximized to an LOD of 7.04 in a subset of

  15. Global and local spatial landmarks: their role during foraging by Columbian ground squirrels (Spermophilus columbianus).

    Vlasak, Anna N

    2006-01-01

    Locating food and refuge is essential for an animal's survival. However, little is known how mammals navigate under natural conditions and cope with given environmental constraints. In a series of six experiments, I investigated landmark-based navigation in free-ranging Columbian ground squirrels (Spermophilus columbianus). Squirrels were trained individually to find a baited platform within an array of nine identical platforms and artificial landmarks set up on their territories. After animals learned the location of the food platform in the array, the position of the latter with respect to local artificial, local natural, and global landmarks was manipulated, and the animal's ability to find the food platform was tested. When only positions of local artificial landmarks were changed, squirrels located food with high accuracy. When the location of the array relative to global landmarks was altered, food-finding accuracy decreased but remained significant. In the absence of known global landmarks, the presence of a familiar route and natural local landmarks resulted in significant but not highly accurate performance. Squirrels likely relied on multiple types of cues when orienting towards a food platform. Local landmarks were used only as a secondary mechanism of navigation, and were not attended to when a familiar route and known global landmarks were present. This study provided insights into landmark use by a wild mammal in a natural situation, and it demonstrated that an array of platforms can be employed to investigate landmark-based navigation under such conditions. PMID:16163480

  16. Landmarks or panoramas: what do navigating ants attend to for guidance?

    Beugnon Guy

    2011-08-01

    Full Text Available Abstract Background Insects are known to rely on terrestrial landmarks for navigation. Landmarks are used to chart a route or pinpoint a goal. The distant panorama, however, is often thought not to guide navigation directly during a familiar journey, but to act as a contextual cue that primes the correct memory of the landmarks. Results We provided Melophorus bagoti ants with a huge artificial landmark located right near the nest entrance to find out whether navigating ants focus on such a prominent visual landmark for homing guidance. When the landmark was displaced by small or large distances, ant routes were affected differently. Certain behaviours appeared inconsistent with the hypothesis that guidance was based on the landmark only. Instead, comparisons of panoramic images recorded on the field, encompassing both landmark and distal panorama, could explain most aspects of the ant behaviours. Conclusion Ants navigating along a familiar route do not focus on obvious landmarks or filter out distal panoramic cues, but appear to be guided by cues covering a large area of their panoramic visual field, including both landmarks and distal panorama. Using panoramic views seems an appropriate strategy to cope with the complexity of natural scenes and the poor resolution of insects' eyes. The ability to isolate landmarks from the rest of a scene may be beyond the capacity of animals that do not possess a dedicated object-perception visual stream like primates.

  17. AUTOMATIC DETECTION AND CLASSIFICATION OF RETINAL VASCULAR LANDMARKS

    Hadi Hamad

    2014-06-01

    Full Text Available The main contribution of this paper is introducing a method to distinguish between different landmarks of the retina: bifurcations and crossings. The methodology may help in differentiating between arteries and veins and is useful in identifying diseases and other special pathologies, too. The method does not need any special skills, thus it can be assimilated to an automatic way for pinpointing landmarks; moreover it gives good responses for very small vessels. A skeletonized representation, taken out from the segmented binary image (obtained through a preprocessing step, is used to identify pixels with three or more neighbors. Then, the junction points are classified into bifurcations or crossovers depending on their geometrical and topological properties such as width, direction and connectivity of the surrounding segments. The proposed approach is applied to the public-domain DRIVE and STARE datasets and compared with the state-of-the-art methods using proper validation parameters. The method was successful in identifying the majority of the landmarks; the average correctly identified bifurcations in both DRIVE and STARE datasets for the recall and precision values are: 95.4% and 87.1% respectively; also for the crossovers, the recall and precision values are: 87.6% and 90.5% respectively; thus outperforming other studies.

  18. Landmark Optimization Using Local Curvature for Point-Based Nonlinear Rodent Brain Image Registration

    Yutong Liu

    2012-01-01

    Full Text Available Purpose. To develop a technique to automate landmark selection for point-based interpolating transformations for nonlinear medical image registration. Materials and Methods. Interpolating transformations were calculated from homologous point landmarks on the source (image to be transformed and target (reference image. Point landmarks are placed at regular intervals on contours of anatomical features, and their positions are optimized along the contour surface by a function composed of curvature similarity and displacements of the homologous landmarks. The method was evaluated in two cases (=5 each. In one, MRI was registered to histological sections; in the second, geometric distortions in EPI MRI were corrected. Normalized mutual information and target registration error were calculated to compare the registration accuracy of the automatically and manually generated landmarks. Results. Statistical analyses demonstrated significant improvement (<0.05 in registration accuracy by landmark optimization in most data sets and trends towards improvement (<0.1 in others as compared to manual landmark selection.

  19. A novel method, digital genome scanning detects KRAS gene amplification in gastric cancers: involvement of overexpressed wild-type KRAS in downstream signaling and cancer cell growth

    Yanagihara Kazuyoshi

    2009-06-01

    Full Text Available Abstract Background Gastric cancer is the third most common malignancy affecting the general population worldwide. Aberrant activation of KRAS is a key factor in the development of many types of tumor, however, oncogenic mutations of KRAS are infrequent in gastric cancer. We have developed a novel quantitative method of analysis of DNA copy number, termed digital genome scanning (DGS, which is based on the enumeration of short restriction fragments, and does not involve PCR or hybridization. In the current study, we used DGS to survey copy-number alterations in gastric cancer cells. Methods DGS of gastric cancer cell lines was performed using the sequences of 5000 to 15000 restriction fragments. We screened 20 gastric cancer cell lines and 86 primary gastric tumors for KRAS amplification by quantitative PCR, and investigated KRAS amplification at the DNA, mRNA and protein levels by mutational analysis, real-time PCR, immunoblot analysis, GTP-RAS pull-down assay and immunohistochemical analysis. The effect of KRAS knock-down on the activation of p44/42 MAP kinase and AKT and on cell growth were examined by immunoblot and colorimetric assay, respectively. Results DGS analysis of the HSC45 gastric cancer cell line revealed the amplification of a 500-kb region on chromosome 12p12.1, which contains the KRAS gene locus. Amplification of the KRAS locus was detected in 15% (3/20 of gastric cancer cell lines (8–18-fold amplification and 4.7% (4/86 of primary gastric tumors (8–50-fold amplification. KRAS mutations were identified in two of the three cell lines in which KRAS was amplified, but were not detected in any of the primary tumors. Overexpression of KRAS protein correlated directly with increased KRAS copy number. The level of GTP-bound KRAS was elevated following serum stimulation in cells with amplified wild-type KRAS, but not in cells with amplified mutant KRAS. Knock-down of KRAS in gastric cancer cells that carried amplified wild

  20. A novel method, digital genome scanning detects KRAS gene amplification in gastric cancers: involvement of overexpressed wild-type KRAS in downstream signaling and cancer cell growth

    Gastric cancer is the third most common malignancy affecting the general population worldwide. Aberrant activation of KRAS is a key factor in the development of many types of tumor, however, oncogenic mutations of KRAS are infrequent in gastric cancer. We have developed a novel quantitative method of analysis of DNA copy number, termed digital genome scanning (DGS), which is based on the enumeration of short restriction fragments, and does not involve PCR or hybridization. In the current study, we used DGS to survey copy-number alterations in gastric cancer cells. DGS of gastric cancer cell lines was performed using the sequences of 5000 to 15000 restriction fragments. We screened 20 gastric cancer cell lines and 86 primary gastric tumors for KRAS amplification by quantitative PCR, and investigated KRAS amplification at the DNA, mRNA and protein levels by mutational analysis, real-time PCR, immunoblot analysis, GTP-RAS pull-down assay and immunohistochemical analysis. The effect of KRAS knock-down on the activation of p44/42 MAP kinase and AKT and on cell growth were examined by immunoblot and colorimetric assay, respectively. DGS analysis of the HSC45 gastric cancer cell line revealed the amplification of a 500-kb region on chromosome 12p12.1, which contains the KRAS gene locus. Amplification of the KRAS locus was detected in 15% (3/20) of gastric cancer cell lines (8–18-fold amplification) and 4.7% (4/86) of primary gastric tumors (8–50-fold amplification). KRAS mutations were identified in two of the three cell lines in which KRAS was amplified, but were not detected in any of the primary tumors. Overexpression of KRAS protein correlated directly with increased KRAS copy number. The level of GTP-bound KRAS was elevated following serum stimulation in cells with amplified wild-type KRAS, but not in cells with amplified mutant KRAS. Knock-down of KRAS in gastric cancer cells that carried amplified wild-type KRAS resulted in the inhibition of cell growth and

  1. Nuclear Scans

    Nuclear scans use radioactive substances to see structures and functions inside your body. They use a special ... images. Most scans take 20 to 45 minutes. Nuclear scans can help doctors diagnose many conditions, including ...

  2. New Statistical Method to Analyze Three-Dimensional Landmark Configurations Obtained with Cone-Beam CT: Basic Features and Clinical Application for Rapid Maxillary Expansion

    Gamble, Jennifer; Lagravere, Manuel O.; Major, Paul W.; Heo, Giseon [University of Alberta, Edmonton (Canada)

    2012-03-15

    To describe a statistical method of three-dimensional landmark configuration data and apply it to an orthodontic data set comparing two types of rapid maxillary expansion (RME) treatments. Landmark configurations obtained from cone beam CT scans were used to represent patients in two types (please describe what were two types) of RME groups and a control group over four time points. A method using tools from persistent homology and dimensionality reduction is presented and used to identify variability between the subjects. The analysis was in agreement with previous results using conventional methods, which found significant differences between treatment groups and the control, but no distinction between the types of treatment. Additionally, it was found that second molar eruption varied considerably between the subjects, and this has not been evaluated in previous analyses. This method of analysis allows entire configurations to be considered as a whole, and does not require specific inter-landmark distances or angles to be selected. Sources of variability present themselves, without having to be individually sought after. This method is suggested as an additional tool for the analysis of landmark configuration data.

  3. US of the Peripheral Nerves of the Upper Extremity: A Landmark Approach.

    Brown, Jordan M; Yablon, Corrie M; Morag, Yoav; Brandon, Catherine J; Jacobson, Jon A

    2016-01-01

    Ultrasonography (US) has become a first-line modality for the evaluation of the peripheral nerves of the upper extremity. The benefits of US over magnetic resonance (MR) imaging include higher soft-tissue resolution, cost effectiveness, portability, real-time and dynamic imaging, and the ability to scan an entire extremity quickly and efficiently. US can be performed on patients who are not eligible for MR imaging. Metallic implant artifacts are usually not problematic. US has been shown to have equal specificity and greater sensitivity than MR imaging in the evaluation of peripheral nerves. Any abnormal findings can be easily compared with the contralateral side. The published literature has shown that US has demonstrated clinical utility in patients with suspected peripheral nerve disease by guiding diagnostic and therapeutic decisions as well as by confirming electrodiagnostic findings. Common indications for upper extremity peripheral nerve US are the evaluation for injury due to penetrating trauma, entrapment by scar tissue, and tumor. US of the upper extremity is most commonly performed to evaluate carpal and cubital tunnel syndrome. It is important for the radiologist or sonographer to have a detailed knowledge of anatomy and specific anatomic landmarks for each nerve to efficiently and accurately perform an examination. The goal of this article is to introduce readers to the basics of US of the peripheral nerves of the upper extremity with a focus on the median, ulnar, and radial nerves. Common sites of disease and the location of important anatomic landmarks will be reviewed. (©)RSNA, 2016. PMID:26963456

  4. Volumetric Image Guidance Using Carina vs Spine as Registration Landmarks for Conventionally Fractionated Lung Radiotherapy

    Lavoie, Caroline; Higgins, Jane; Bissonnette, Jean-Pierre [Department of Radiation Oncology, Princess Margaret Hospital, University of Toronto, Toronto, Ontario, M5G 2M9 (Canada); Le, Lisa W. [Department of Biostatistics, Princess Margaret Hospital, Toronto, Ontario, M5G 2M9 (Canada); Sun, Alexander; Brade, Anthony; Hope, Andrew; Cho, John [Department of Radiation Oncology, Princess Margaret Hospital, University of Toronto, Toronto, Ontario, M5G 2M9 (Canada); Bezjak, Andrea, E-mail: andrea.bezjak@rmp.uhn.on.ca [Department of Radiation Oncology, Princess Margaret Hospital, University of Toronto, Toronto, Ontario, M5G 2M9 (Canada)

    2012-12-01

    Purpose: To compare the relative accuracy of 2 image guided radiation therapy methods using carina vs spine as landmarks and then to identify which landmark is superior relative to tumor coverage. Methods and Materials: For 98 lung patients, 2596 daily image-guidance cone-beam computed tomography scans were analyzed. Tattoos were used for initial patient alignment; then, spine and carina registrations were performed independently. A separate analysis assessed the adequacy of gross tumor volume, internal target volume, and planning target volume coverage on cone-beam computed tomography using the initial, middle, and final fractions of radiation therapy. Coverage was recorded for primary tumor (T), nodes (N), and combined target (T+N). Three scenarios were compared: tattoos alignment, spine registration, and carina registration. Results: Spine and carina registrations identified setup errors {>=}5 mm in 35% and 46% of fractions, respectively. The mean vector difference between spine and carina matching had a magnitude of 3.3 mm. Spine and carina improved combined target coverage, compared with tattoos, in 50% and 34% (spine) to 54% and 46% (carina) of the first and final fractions, respectively. Carina matching showed greater combined target coverage in 17% and 23% of fractions for the first and final fractions, respectively; with spine matching, this was only observed in 4% (first) and 6% (final) of fractions. Carina matching provided superior nodes coverage at the end of radiation compared with spine matching (P=.0006), without compromising primary tumor coverage. Conclusion: Frequent patient setup errors occur in locally advanced lung cancer patients. Spine and carina registrations improved combined target coverage throughout the treatment course, but carina matching provided superior combined target coverage.

  5. Volumetric Image Guidance Using Carina vs Spine as Registration Landmarks for Conventionally Fractionated Lung Radiotherapy

    Purpose: To compare the relative accuracy of 2 image guided radiation therapy methods using carina vs spine as landmarks and then to identify which landmark is superior relative to tumor coverage. Methods and Materials: For 98 lung patients, 2596 daily image-guidance cone-beam computed tomography scans were analyzed. Tattoos were used for initial patient alignment; then, spine and carina registrations were performed independently. A separate analysis assessed the adequacy of gross tumor volume, internal target volume, and planning target volume coverage on cone-beam computed tomography using the initial, middle, and final fractions of radiation therapy. Coverage was recorded for primary tumor (T), nodes (N), and combined target (T+N). Three scenarios were compared: tattoos alignment, spine registration, and carina registration. Results: Spine and carina registrations identified setup errors ≥5 mm in 35% and 46% of fractions, respectively. The mean vector difference between spine and carina matching had a magnitude of 3.3 mm. Spine and carina improved combined target coverage, compared with tattoos, in 50% and 34% (spine) to 54% and 46% (carina) of the first and final fractions, respectively. Carina matching showed greater combined target coverage in 17% and 23% of fractions for the first and final fractions, respectively; with spine matching, this was only observed in 4% (first) and 6% (final) of fractions. Carina matching provided superior nodes coverage at the end of radiation compared with spine matching (P=.0006), without compromising primary tumor coverage. Conclusion: Frequent patient setup errors occur in locally advanced lung cancer patients. Spine and carina registrations improved combined target coverage throughout the treatment course, but carina matching provided superior combined target coverage.

  6. Notes on the Landmark Development of CBR in China

    Dahong Zhuo

    2009-01-01

    Community-based rehabilitation has a history of 22 years in China.In spite of the preliminary achievement and experiences obtained by the pioneering and trial projects,it was not until the beginning of the new century that CBR in China experienced a landmark development.This iS characterized by a number of favorable pohcy by the government for CBR;the mechanism facilitating primary health care with CBR,a new work-force system of CBR reorganized with better motivation and efficiency,99 demonstration projects of CBR bringing about benchmark promotion effect and the active involvement in CBR by social resources agents.

  7. All that Glitters is not Gold: Using Landmarks for Reward Shaping in FPG

    Buffet, Olivier; Hoffmann, Joerg

    2010-01-01

    Landmarks are facts that must be true at some point in any plan. It has recently been proposed in classical planning to use landmarks for the automatic generation of heuristic functions. We herein apply this idea in probabilistic planning. We focus on the FPG tool, which derives a factored policy based on learning from samples into the state space. The rationale is that FPG's performance can be improved significantly by a trivial heuristic that counts the number of false goals; landmarks prov...

  8. Disorientation inhibits landmark use in 12-18-month-old infants.

    Lew, Adina R; Foster, Kirsty A; Bremner, J Gavin

    2006-07-01

    Recent research has indicated that, particularly under conditions of inertial disorientation, mammals may be sensitive to landmark configuration geometry at the expense of individual featural information when locating hidden goals. The current study sought to establish whether landmark use could be demonstrated in 12-18-month-old infants with and without a disorientation procedure, and with geometrically ambiguous landmark configurations. A peekaboo paradigm was employed in which infants learned to anticipate a peekaboo event after a cue from two locations within a circular arena, followed by a test trial from a novel position in which no peekaboo occurred after the cue. In all conditions, an isosceles triangle arrangement of landmarks was used, with peekaboo occurring between the landmarks of one of the two equal "sides", thus being geometrically ambiguous. In two conditions, the landmarks were distinctive, and in two further conditions, they were identical. In one of the distinctive conditions and one of the identical landmark conditions, infants underwent a disorientation procedure in between training and test trials. Only oriented infants with distinctive landmarks were successful in test trials, thus suggesting that infants are able to use the individual features of landmarks to locate a goal, but can only do so if oriented. PMID:17138289

  9. The use of radial symmetry to localize retinal landmarks.

    Giachetti, A; Ballerini, L; Trucco, E; Wilson, P J

    2013-01-01

    Locating the optic disc center and the fovea in digital fundus images is surprisingly difficult due to the variation range in color and contrast and the possible presence of pathologies creating bright spots or changing the appearance of retinal landmarks. These reasons make it difficult to find good templates of optic disc and fovea shape and color for pattern matching. In this paper we propose radial symmetry as the principal cue to locate both optic disc and macula centers. Centers of bright and dark circularly symmetrical regions with arbitrary radii, can be found robustly against changes in brightness and contrast by using the Fast Radial Symmetry transform. Detectors based on this transform coupled with a weak hypothesis on vessel density (optic disc intersects large vessels while the fovea lies in an avascular region), can provide a fast location of both OD and macula with accuracy similar or better than state-of-the-art methods. The approach has been chosen as the default technique for fast localization of the two landmarks in the VAMPIRE software suite. PMID:23886574

  10. SHEsisEpi, a GPU-enhanced genome-wide SNP-SNP interaction scanning algorithm, efficiently reveals the risk genetic epistasis in bipolar disorder

    Xiaohan Hu; Qiang Liu; Zhao Zhang; Zhiqiang Li; Shilin Wang; Lin He; Yongyong Shi

    2010-01-01

    @@ Dear Editor, We developed a GPU-based analytical method, named as SHEsisEpi, which purely focuses on risk epistasis in a genome-wide association study (GWAS) of complex traits, excluding the contamination of marginal effects caused by single-locus association. We analyzed the Wellcome Trust Case Control Consortium's (WTCCC)GWAS data of bipolar disorder (BPD) with 500K SNPs.

  11. CT Scans

    ... cross-sectional pictures of your body. Doctors use CT scans to look for Broken bones Cancers Blood clots Signs of heart disease Internal bleeding During a CT scan, you lie still on a table. The table ...

  12. Thyroid scan

    ... PET scan Skin nodules Thyroid cancer Thyroid cancer - medullary carcinoma Thyroid cancer - papillary carcinoma Toxic nodular goiter ... Topics Hyperthyroidism Hypothyroidism Nuclear Scans Thyroid Cancer Thyroid Diseases Thyroid Tests Browse the Encyclopedia A.D.A. ...

  13. Multifunction Digital Research Scanning System

    The multifunction digital research scanning system is a modularly constructed organ visualization system. The design objective of this system is quantification of organ visualization data, i.e. μCi/g. It is a high-speed (500 cm/min), 14-crystal, digital rectilinear scanner built as a special-purpose hard-wired computer. The two synchronous detector heads, one beneath and one above the scantable, each consisting of a linear array of seven, 3-in. x 2-in. NaI(Tl) crystals, each crystal having its own focused collimator. Each 7-detector array can be independently moved in the vertical direction. The exact position of the detectors is known at all times by the use of an absolute 13-bit shaft angle encoder along the longitudinal axis of the scantable and a programmable SloSyn motor across the table. Anatomical landmarks may be programmed into the system and automatically recognized when the detector passes over these points. The scan field is 198 cm long by 62 cm wide with a position resolution of 0.14 cm. The primary scan motion is along the longitudinal axis of the table and the detectors are indexed across the table. The scan image is built up seven lines at a time, allowing the total scanfield to be visualized with each pass of the detectors. Each crystal has its own 8-bit or 12-bit counter with buffer storage. A single fast pulse-height analyser (200 nsec. random pulse-pair resolution) is used for all 14 crystals using a time-sharing 'cueing' technique. The major components of the system consist of the mechanical scanning frame and position encoders; radiation detectors, coincidence circuitry and nuclear instrumentation; counters and buffer storage; anatomical landmark recognition section; arithmetic section; program control logic; system control logic; output control logic and the output devices. At present, the output devices consist of digital cathode-ray tubes, a storage scope, an IBM l/O writer and a Kennedy incremental read-write magnetic tape recorder. This

  14. Automated planning of MRI neuro scans

    Young, Stewart; Bystrov, Daniel; Netsch, Thomas; Bergmans, Rene; van Muiswinkel, Arianne; Visser, Fredy; Sprigorum, Rudolf; Gieseke, Jürgen

    2006-03-01

    In clinical MRI examinations, the geometry of diagnostic scans is defined in an initial planning phase. The operator plans the scan volumes (off-centre, angulation, field-of-view) with respect to patient anatomy in 'scout' images. Often multiple plans are required within a single examination, distracting attention from the patient waiting in the scanner. A novel and robust method is described for automated planning of neurological MRI scans, capable of handling strong shape deviations from healthy anatomy. The expert knowledge required to position scan geometries is learned from previous example plans, allowing site-specific styles to be readily taken into account. The proposed method first fits an anatomical model to the scout data, and then new scan geometries are positioned with respect to extracted landmarks. The accuracy of landmark extraction was measured to be comparable to the inter-observer variability, and automated plans are shown to be highly consistent with those created by expert operators using clinical data. The results of the presented evaluation demonstrate the robustness and applicability of the proposed approach, which has the potential to significantly improve clinical workflow.

  15. A genome scan for quantitative trait loci affecting growth-related traits in an F1 family of Asian seabass (Lates calcarifer)

    Yue Gen; Zhu Ze; Lo Loong; Wang Chun

    2006-01-01

    Abstract Background Body weight and length are economically important traits in foodfish species influenced by quantitative trait loci (QTL) and environmental factors. It is usually difficult to dissect the genetic and environmental effects. Asian seabass (Lates calcarifer) is an important marine foodfish species with a compact genome (~700 Mb). The recent construction of a first generation linkage map of Asian seabass with 240 microsatellites provides a good opportunity to determine the numb...

  16. Using Regulatory and Epistatic Networks to Extend the Findings of a Genome Scan: Identifying the Gene Drivers of Pigmentation in Merino Sheep

    Elsa García-Gámez; Antonio Reverter; Vicki Whan; McWilliam, Sean M.; Juan José Arranz; James Kijas

    2011-01-01

    Extending genome wide association analysis by the inclusion of gene expression data may assist in the dissection of complex traits. We examined piebald, a pigmentation phenotype in both human and Merino sheep, by analysing multiple data types using a systems approach. First, a case control analysis of 49,034 ovine SNP was performed which confirmed a multigenic basis for the condition. We combined these results with gene expression data from five tissue types analysed with a skin-specific micr...

  17. Genome scans reveal candidate domestication and improvement genes in cultivated sunflower, as well as post-domestication introgression with wild relatives.

    Baute, Gregory J; Kane, Nolan C; Grassa, Christopher J; Lai, Zhao; Rieseberg, Loren H

    2015-04-01

    The development of modern crops typically involves both selection and hybridization, but to date most studies have focused on the former. In the present study, we explore how both processes, and their interactions, have molded the genome of the cultivated sunflower (Helianthus annuus), a globally important oilseed. To identify genes targeted by selection during the domestication and improvement of sunflower, and to detect post-domestication hybridization with wild species, we analyzed transcriptome sequences of 80 genotypes, including wild, landrace, and modern lines of H. annuus, as well as two cross-compatible wild relatives, Helianthus argophyllus and Helianthus petiolaris. Outlier analyses identified 122 and 15 candidate genes associated with domestication and improvement, respectively. As in several previous studies, genes putatively involved in oil biosynthesis were the most extreme outliers. Additionally, several promising associations were observed with previously mapped quantitative trait loci (QTLs), such as branching. Admixture analyses revealed that all the modern cultivar genomes we examined contained one or more introgressions from wild populations, with every chromosome having evidence of introgression in at least one modern line. Cumulatively, introgressions cover c. 10% of the cultivated sunflower genome. Surprisingly, introgressions do not avoid candidate domestication genes, probably because of the reintroduction of branching. PMID:25641359

  18. Bringing history to life: simulating landmark experiments in psychology.

    Boynton, David M; Smith, Laurence D

    2006-05-01

    The course in history of psychology can be challenging for students, many of whom enter it with little background in history and faced with unfamiliar names and concepts. The sheer volume of material can encourage passive memorization unless efforts are made to increase student involvement. As part of a trend toward experiential history, historians of science have begun to supplement their lectures with demonstrations of classic physics experiments as a way to bring the history of science to life. Here, the authors report on computer simulations of five landmark experiments from early experimental psychology in the areas of reaction time, span of attention, and apparent motion. The simulations are designed not only to permit hands-on replication of historically important results but also to reproduce the experimental procedures closely enough that students can gain a feel for the nature of early research and the psychological processes being studied. PMID:17152604

  19. Chronic Pancreatitis: Landmark Papers, Management Decisions, and Future.

    DiMagno, Eugene P; DiMagno, Matthew J

    2016-01-01

    On May 16, 2015 at the invitation of the American Gastroenterological Association Institute Council E.P.D. presented a state-of-the-art lecture at Digestive Disease Week 2015. The aims were to discuss a selection of landmark papers in chronic pancreatitis (CP) that influence modern management and to conclude by suggesting some future directions. This is based on that presentation. We will specifically review the following: duct anatomy and pancreas divisum, description of chronic relapsing pancreatitis and its differentiation from recurrent acute pancreatitis and established CP (ECP), natural histories and gene discoveries of alcoholic, idiopathic and hereditary pancreatitis, development of pancreatic cancer in CP, exocrine pancreatic insufficiency and calculation of dose and delivery of enzymes, endoscopic ultrasonography, and autoimmune pancreatitis. With some exceptions, we exclude basic science and surgery. PMID:27077713

  20. Looking beyond the Boundaries: Time to Put Landmarks Back on the Cognitive Map?

    Lew, Adina R.

    2011-01-01

    Since the proposal of Tolman (1948) that mammals form maplike representations of familiar environments, cognitive map theory has been at the core of debates on the fundamental mechanisms of animal learning and memory. Traditional formulations of cognitive map theory emphasize relations between landmarks and between landmarks and goal locations as…

  1. Posterior belly of the digastric muscle: An important landmark for various head and neck surgeries

    Vrinda Hari Ankolekar

    2015-04-01

    Conclusion: As the PBD muscle is an important surgical landmark, the present study adds to the existing knowledge about it. The present study has also included few newer landmarks, which were not given importance in the previous studies. [Arch Clin Exp Surg 2015; 4(2.000: 79-82

  2. STUDY ON COMPARISON BETWEEN LANDMARK GUIDED (BRINKMAN'S TECHNIQUE ) AND ULTRASOUND GUIDED INTERNAL JUGULAR VEIN CANNULATION

    Vinod; Sashi Walling

    2015-01-01

    Technique of cannulating the central veins , until recently has been based on landmark guided technique . Recently ultrasound machines with high frequency probes are being used to increase success rate and reducing complications. OBJECTIVE: In our study we compare landmark guided technique ( Brinkman's technique ) ( 1 ) with ultrasound guided technique. STUDY DESIGN: outcome was evaluated in terms of 1 ) Number of attempts 2 ) ...

  3. Reorienting strategies in a rectangular array of landmarks by domestic chicks (Gallus gallus).

    Pecchia, Tommaso; Vallortigara, Giorgio

    2010-05-01

    Spatial reorientation in a rectangular array of four landmarks located in the center of a circular enclosure was investigated in domestic chicks (Gallus gallus). One of the landmark possessed unique visual features, indicating the location of a food reward. After training, chicks were tested (a) with the same array as during the training; (b) with four identical landmarks of the type previously nonrewarded, of the type previously rewarded, or of a new type; (c) after having transformed one of the landmarks located at the geometric incorrect location into the type of landmark previously rewarded; or (d) with a fifth landmark of the rewarded type at a new location. Chicks encoded information provided by local featural cues but not the geometric information provided by the shape of the array. Moreover, when trained in a rectangular array of identical landmarks chicks failed to reorient. In a second series of experiments, the array was located in correspondence to the corners of a rectangular enclosure. This time chicks successfully learned to locate the reward using geometric information. However, when the rectangular array was located in the center of a larger rectangular enclosure, chicks failed to reorient, indicating that the geometric information given by the macroscopic layout of arena surfaces was not used to specify different locations. These results suggest that chicks reorient on the basis of a local representation of single landmarks and that encoding of the global aspects of geometry only occurs with respect to the large, extended surfaces of an enclosure. PMID:20476814

  4. Visual landmark-directed scatter-hoarding of Siberian chipmunks Tamias sibiricus.

    Zhang, Dongyuan; Li, Jia; Wang, Zhenyu; Yi, Xianfeng

    2016-05-01

    Spatial memory of cached food items plays an important role in cache recovery by scatter-hoarding animals. However, whether scatter-hoarding animals intentionally select cache sites with respect to visual landmarks in the environment and then rely on them to recover their cached seeds for later use has not been extensively explored. Furthermore, there is a lack of evidence on whether there are sex differences in visual landmark-based food-hoarding behaviors in small rodents even though male and female animals exhibit different spatial abilities. In the present study, we used a scatter-hoarding animal, the Siberian chipmunk, Tamias sibiricus to explore these questions in semi-natural enclosures. Our results showed that T. sibiricus preferred to establish caches in the shallow pits labeled with visual landmarks (branches of Pinus sylvestris, leaves of Athyrium brevifrons and PVC tubes). In addition, visual landmarks of P. sylvestris facilitated cache recovery by T. sibiricus. We also found significant sex differences in visual landmark-based food-hoarding strategies in Siberian chipmunks. Males, rather than females, chipmunks tended to establish their caches with respect to the visual landmarks. Our studies show that T. sibiricus rely on visual landmarks to establish and recover their caches, and that sex differences exist in visual landmark-based food hoarding in Siberian chipmunks. PMID:27160702

  5. The Development of Landmark and Beacon Use in Young Children: Evidence from a Touchscreen Search Task

    Sutton, Jennifer E.

    2006-01-01

    Children ages 2, 3 and 4 years participated in a novel hide-and-seek search task presented on a touchscreen monitor. On beacon trials, the target hiding place could be located using a beacon cue, but on landmark trials, searching required the use of a nearby landmark cue. In Experiment 1, 2-year-olds performed less accurately than older children…

  6. Anatomic landmarks for localization of the spinal accessory nerve.

    Durazzo, Marcelo D; Furlan, Julio C; Teixeira, Gilberto V; Friguglietti, Celso U M; Kulcsar, Marco A V; Magalhães, Roberto P; Ferraz, Alberto R; Brandão, Lenine G

    2009-05-01

    This anatomical study examines the anatomic topography and landmarks for localization of the spinal accessory nerve (SAN) during surgical dissections in 40 fresh human cadavers (2 females and 38 males; ages from 22 to 89 years with a mean of 60 years). In the submandibular region, the SAN was found anteriorly to the transverse process of the atlas in 77.5% of the dissections. When the SAN crossed the posterior belly of the digastric muscle, the mean distance from the point of crossing to the tendon of the muscle was 1.75 +/- 0.54 cm. Distally, the SAN crossed between the two heads of the SCM muscle in 45% of the dissections and deep to the muscle in 55%. The SAN exited the posterior border of the sternocleidomastoid muscle in a point superior to the nerve point with a mean distance between these two anatomic parameters of 0.97 +/- 0.46 cm. The mean overall extracranial length of the SAN was 12.02 +/- 2.32 cm, whereas the mean length of the SAN in the posterior triangle was 5.27 +/- 1.52 cm. There were 2-10 lymph nodes in the SAN chain. In conclusion, the nerve point is one of the most reliable anatomic landmarks for localization of the SAN in surgical neck dissections. Although other anatomic parameters including the transverse process of the atlas and the digastric muscle can also be used to localize the SAN, the surgeon should be aware of the possibility of anatomic variations of those parameters. Similar to previous investigations, our results suggest that the number of lymph nodes of the SAN chain greatly varies. PMID:19373901

  7. Landmark and route knowledge in children’s spatial representation of a virtual environment

    Marion eNys

    2015-01-01

    Full Text Available This study investigates the development of landmark and route knowledge in complex wayfinding situations. Our study focuses on how children (aged 6, 8 and 10 years and young adults (n=79 indicate, recognize, and bind landmarks and directions in both verbal and visuo-spatial tasks after learning a virtual route. Performance in these tasks is also related to general verbal and visuo-spatial abilities as assessed by independent standardized tests (attention, working memory, perception of direction, production and comprehension of spatial terms, sentences and stories. The results first show that the quantity and quality of landmarks and directions produced and recognized by participants in both verbal and visuo-spatial tasks increased with age. In addition, an increase with age was observed in participants’ selection of decisional landmarks (i.e. landmarks associated with a change of direction, as well as in their capacity to bind landmarks and directions. Our results confirm the view that children first acquire landmark knowledge, then route knowledge, as shown by their late developing ability to bind knowledge of directions and landmarks. Overall, the quality of verbal and visuo-spatial information in participants’ spatial representations was found to vary mostly with their visuo-spatial abilities (attention and perception of directions and not with their verbal abilities. Interestingly, however, when asked to recognize landmarks encountered during the route, participants show an increasing bias with age toward choosing a related landmark of the same category, regardless of its visual characteristics, i.e. they incorrectly choose the picture of another fountain. The discussion highlights the need for further studies to determine more precisely the role of verbal and visuo-spatial knowledge and the nature of how children learn to represent and memorize routes.

  8. Using an Inbred Horse Breed in a High Density Genome-Wide Scan for Genetic Risk Factors of Insect Bite Hypersensitivity (IBH)

    Velie, Brandon D.; Shrestha, Merina; Franҫois, Liesbeth; Schurink, Anouk; Tesfayonas, Yohannes G.; Stinckens, Anneleen; Blott, Sarah; Ducro, Bart J.; Mikko, Sofia; Thomas, Ruth; Swinburne, June E.; Sundqvist, Marie; Eriksson, Susanne; Buys, Nadine; Lindgren, Gabriella

    2016-01-01

    While susceptibility to hypersensitive reactions is a common problem amongst humans and animals alike, the population structure of certain animal species and breeds provides a more advantageous route to better understanding the biology underpinning these conditions. The current study uses Exmoor ponies, a highly inbred breed of horse known to frequently suffer from insect bite hypersensitivity, to identify genomic regions associated with a type I and type IV hypersensitive reaction. A total of 110 cases and 170 controls were genotyped on the 670K Axiom Equine Genotyping Array. Quality control resulted in 452,457 SNPs and 268 individuals being tested for association. Genome-wide association analyses were performed using the GenABEL package in R and resulted in the identification of two regions of interest on Chromosome 8. The first region contained the most significant SNP identified, which was located in an intron of the DCC netrin 1 receptor gene. The second region identified contained multiple top SNPs and encompassed the PIGN, KIAA1468, TNFRSF11A, ZCCHC2, and PHLPP1 genes. Although additional studies will be needed to validate the importance of these regions in horses and the relevance of these regions in other species, the knowledge gained from the current study has the potential to be a step forward in unraveling the complex nature of hypersensitive reactions. PMID:27070818

  9. The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An Autosomal Genome Scan for Genes That Predispose to Type 2 Diabetes

    Ghosh, Soumitra; Watanabe, Richard M; Valle, Timo T.; Hauser, Elizabeth R; Magnuson, Victoria L.; Langefeld, Carl D.; Ally, Delphine S.; Mohlke, Karen L.; Silander, Kaisa; Kohtamäki, Kimmo; Chines, Peter; Balow, Jr., James; Birznieks, Gunther; Chang, Jennie; Eldridge, William

    2000-01-01

    We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score (MLS) of 2.15 at map position 69.5 cM from pter and secondary weighted LOD-score peaks of 2.04 at 56.5 cM and 1.99 at 17.5 cM. Our next largest MLS is for chromosome 11 (MLS = 1.75 at 84.0 cM), followed by chromosomes 2 (MLS = 0.87 at 5.5 cM), 10 (MLS = 0.77 at 75.0 cM), and 6 (MLS = 0.61 at 112.5 ...

  10. Landmarks of History of Soil Science in Sri Lanka

    Mapa, R.

    2012-04-01

    Sri Lanka is a tropical Island in the Southern tip of Indian subcontinent positioned at 50 55' to 90 50' N latitude and 790 42' to 810 53' E longitude surrounded by the Indian Ocean. It is an island 435 km in length and 224 km width consisting of a land are of 6.56 million ha with a population of 20 million. In area wise it is ranked as 118th in the world, where at present ranked as 47 in population wise and ranked 19th in population density. The country was under colonial rule under Portuguese, Dutch and British from 1505 to 1948. The majority of the people in the past and present earn their living from activities based on land, which indicates the important of the soil resource. The objective of this paper is to describe the landmarks of the history of Soil Science to highlight the achievements and failures, which is useful to enrich our present understanding of Sri Lankan soils. The landmarks of the history of Soil Science in Sri Lanka can be divided to three phases namely, the early period (prior to 1956), the middle period (1956 to 1972) and the present period (from 1972 onwards). During the early period, detailed analytical studies of coffee and tea soils were compiled, and these gave mainly information on up-country soils which led to fertilizer recommendations based on field trials. In addition, rice and forest soils were also studied in less detail. The first classification of Sri Lankan soils and a provisional soil map based on parent material was published by Joachim in 1945 which is a major landmark of history of Soil Science in Sri Lanka. In 1959 Ponnamperuma proposed a soil classification system for wetland rice soils. From 1963 to 1968 valuable information on the land resource was collected and documented by aerial resource surveys funded by Canada-Ceylon Colombo plan aid project. This covered 18 major river basins and about 1/4th of Sri Lanka, which resulted in producing excellent soil maps and information of the areas called the Kelani Aruvi Ara

  11. Landmark navigation and autonomous landing approach with obstacle detection for aircraft

    Fuerst, Simon; Werner, Stefan; Dickmanns, Dirk; Dickmanns, Ernst D.

    1997-06-01

    A machine perception system for aircraft and helicopters using multiple sensor data for state estimation is presented. By combining conventional aircraft sensor like gyros, accelerometers, artificial horizon, aerodynamic measuring devices and GPS with vision data taken by conventional CCD-cameras mounted on a pan and tilt platform, the position of the craft can be determined as well as the relative position to runways and natural landmarks. The vision data of natural landmarks are used to improve position estimates during autonomous missions. A built-in landmark management module decides which landmark should be focused on by the vision system, depending on the distance to the landmark and the aspect conditions. More complex landmarks like runways are modeled with different levels of detail that are activated dependent on range. A supervisor process compares vision data and GPS data to detect mistracking of the vision system e.g. due to poor visibility and tries to reinitialize the vision system or to set focus on another landmark available. During landing approach obstacles like trucks and airplanes can be detected on the runway. The system has been tested in real-time within a hardware-in-the-loop simulation. Simulated aircraft measurements corrupted by noise and other characteristic sensor errors have been fed into the machine perception system; the image processing module for relative state estimation was driven by computer generated imagery. Results from real-time simulation runs are given.

  12. Quantitative trait loci involved in sex determination and body growth in the gilthead sea bream (Sparus aurata L. through targeted genome scan.

    Dimitrios Loukovitis

    Full Text Available Among vertebrates, teleost fish exhibit a considerably wide range of sex determination patterns that may be influenced by extrinsic parameters. However even for model fish species like the zebrafish Danio rerio the precise mechanisms involved in primary sex determination have not been studied extensively. The zebrafish, a gonochoristic species, is lacking discernible sex chromosomes and the sex of juvenile fish is difficult to determine. Sequential protandrous hermaphrodite species provide distinct determination of the gender and allow studying the sex determination process by looking at the mechanism of sex reversal. This is the first attempt to understand the genetic basis of phenotypic variation for sex determination and body weight in a sequential protandrous hermaphrodite species, the gilthead sea bream (Sparus aurata. This work demonstrates a fast and efficient strategy for Quantitative Trait Loci (QTL detection in the gilthead sea bream, a non-model but target hermaphrodite fish species. Therefore a comparative mapping approach was performed to query syntenies against two other Perciformes, the European sea bass (Dicentrarchus labrax, a gonochoristic species and the Asian sea bass (Lates calcarifer a protandrous hermaphrodite. In this manner two significant QTLs, one QTL affecting both body weight and sex and one QTL affecting sex, were detected on the same linkage group. The co-segregation of the two QTLs provides a genomic base to the observed genetic correlation between these two traits in sea bream as well as in other teleosts. The identification of QTLs linked to sex reversal and growth, will contribute significantly to a better understanding of the complex nature of sex determination in S. aurata where most individuals reverse to the female sex at the age of two years through development and maturation of the ovarian portion of the gonad and regression of the testicular area. [Genomic sequences reported in this manuscript have been

  13. Encoding and retrieval of landmark-related spatial cues during navigation: an fMRI study.

    Wegman, Joost; Tyborowska, Anna; Janzen, Gabriele

    2014-07-01

    To successfully navigate, humans can use different cues from their surroundings. Learning locations in an environment can be supported by parallel subsystems in the hippocampus and the striatum. We used fMRI to look at differences in the use of object-related spatial cues while 47 participants actively navigated in an open-field virtual environment. In each trial, participants navigated toward a target object. During encoding, three positional cues (columns) with directional cues (shadows) were available. During retrieval, the removed target had to be replaced while either two objects without shadows (objects trial) or one object with a shadow (shadow trial) were available. Participants were informed in blocks about which type of retrieval trial was most likely to occur, thereby modulating expectations of having to rely on a single landmark or on a configuration of landmarks. How the spatial learning systems in the hippocampus and caudate nucleus were involved in these landmark-based encoding and retrieval processes were investigated. Landmark configurations can create a geometry similar to boundaries in an environment. It was found that the hippocampus was involved in encoding when relying on configurations of landmarks, whereas the caudate nucleus was involved in encoding when relying on single landmarks. This might suggest that the observed hippocampal activation for configurations of objects is linked to a spatial representation observed with environmental boundaries. Retrieval based on configurations of landmarks activated regions associated with the spatial updation of object locations for reorientation. When only a single landmark was available during retrieval, regions associated with updating the location of oneself were activated. There was also evidence that good between-participant performance was predicted by right hippocampal activation. This study therefore sheds light on how the brain deals with changing demands on spatial processing related purely

  14. The format of children's mental images: Evidence from mental scanning.

    Wimmer, Marina C; Maras, Katie L; Robinson, Elizabeth J; Thomas, Charlotte

    2016-09-01

    This study examined the development and format of children's mental images. Children (4-, 5-, 6-7-, 8-9-, and 11-year-olds) and adults (N=282) viewed a map of a fictitious island containing various landmarks and two misleading signposts, indicating that some equidistant landmarks were different distances apart. Five-year-olds already revealed the linear time-distance scanning effect, previously shown in adults (Experiments 1 and 2): They took longer to mentally scan their image of the island with longer distances between corresponding landmarks, indicating the depictive format of children's mental images. Unlike adults, their scanning times were not affected by misleading top-down distance information on the signposts until age 8 (Experiment 1) unless they were prompted to the difference from the outset (Experiment 2). Findings provide novel insights into the format of children's mental images in a mental scanning paradigm and show that children's mental images can be susceptible to top-down influences as are adults'. PMID:27239749

  15. Digital radiographic localization for CT scanning of the larynx

    Silverman, P.M.; Korobkin, M.; Rauch, R.F.

    1983-12-01

    Computed tomography (CT) of the larynx is the preferred method for staging laryngeal carcinoma and assessing the extent of injury from trauma. The standard method of examination consists of 5 mm contiguous scans throughout the larynx in quiet respiration. Scans are performed with the patient supine with the neck slightly extended allowing the long axis of the larynx to be perpendicular to the scanning plane. A complete examination requires scanning from the supraglottic region (level of hyoid bone) to the subglottic region (level of cricoid cartlage). In the authors' experience when this method is used, multiple scans are performed cephalad to the level of interest because no upper limit of the examination is established before transaxial scans are done. We have used the lateral digital radiograph of the neck to identify specific landmarks so that the upper and lower limets of the examination can be established before scanning.

  16. Faithful Completion of Images of Scenic Landmarks Using Internet Images.

    Zhu, Zhe; Huang, Hao-Zhi; Tan, Zhi-Peng; Xu, Kun; Hu, Shi-Min

    2016-08-01

    Previous works on image completion typically aim to produce visually plausible results rather than factually correct ones. In this paper, we propose an approach to faithfully complete the missing regions of an image. We assume that the input image is taken at a well-known landmark, so similar images taken at the same location can be easily found on the Internet. We first download thousands of images from the Internet using a text label provided by the user. Next, we apply two-step filtering to reduce them to a small set of candidate images for use as source images for completion. For each candidate image, a co-matching algorithm is used to find correspondences of both points and lines between the candidate image and the input image. These are used to find an optimal warp relating the two images. A completion result is obtained by blending the warped candidate image into the missing region of the input image. The completion results are ranked according to combination score, which considers both warping and blending energy, and the highest ranked ones are shown to the user. Experiments and results demonstrate that our method can faithfully complete images. PMID:26394429

  17. CT scan

    ... come from a CT scan. Some people have allergies to contrast dye. Let your doctor know if you have ... vein contains iodine. If you have an iodine allergy, a type of contrast may cause nausea or vomiting , sneezing , itching , or ...

  18. MRI Scans

    Magnetic resonance imaging (MRI) uses a large magnet and radio waves to look at organs and structures inside your body. Health care professionals use MRI scans to diagnose a variety of conditions, from ...

  19. A genome-wide scan reveals important roles of DNA methylation in human longevity by regulating age-related disease genes.

    Fu-Hui Xiao

    Full Text Available It is recognized that genetic factors contribute to human longevity. Besides the hypothesis of existence of longevity genes, another suggests that a lower frequency of risk alleles decreases the incidence of age-related diseases in the long-lived people. However, the latter finds no support from recent genetic studies. Considering the crucial role of epigenetic modification in gene regulation, we then hypothesize that suppressing disease-related genes in longevity individuals is likely achieved by epigenetic modification, e.g. DNA methylation. To test this hypothesis, we investigated the genome-wide methylation profile in 4 Chinese female centenarians and 4 middle-aged controls using methyl-DNA immunoprecipitation sequencing. 626 differentially methylated regions (DMRs were observed between both groups. Interestingly, genes with these DMRs were enriched in age-related diseases, including type-2 diabetes, cardiovascular disease, stroke and Alzheimer's disease. This pattern remains rather stable after including methylomes of two white individuals. Further analyses suggest that the observed DMRs likely have functional roles in regulating disease-associated gene expressions, with some genes [e.g. caspase 3 (CASP3] being down-regulated whereas the others [i.e. interleukin 1 receptor, type 2 (IL1R2] up-regulated. Therefore, our study suggests that suppressing the disease-related genes via epigenetic modification is an important contributor to human longevity.

  20. A genome scan for quantitative trait loci affecting grain yield and its components of maize both in single-and two-locus levels

    YAN Jianbing; TANG Hua; HUANG Yiqin; ZHENG Yonglian; SUBHASH Chander; LI Jiansheng

    2006-01-01

    By adding thirty-one markers in the previous linkage map, a new genetic linkage map containing 205 markers was constructed, spanning a total of 2305.4 cM with an average interval of 11.2 cM. The genotypic errors in the whole genome were detected by the statistical method and removed manually. The precision of the linkage map was improved significantly. Main and epistatic QTL were detected by R/qtl, and main QTL were confirmed and refined by multiple interval mapping (MIM). Finally, MIM detected seven QTL for rows number, and five QTL for each grain yield, kernels per row and 100-kernel weight. The contribution to genetic variations of QTL varied from 35.3% for grain yield to 61.5% for rows number. Only kernels per row exhibited significant epistatic interactions between QTL. Twenty-four epistatic QTL were detected which distributed on almost all the ten chromosomes. About two-third epistatic QTL were observed between main QTL and another locus, which had no significant effects. These results indicate rather clearly that there are a number of QTL affecting trait expressions, not directly but indirectly through interactions with other loci. Thus, epistatic QTL effects may play a crucial role, if not more important than main QTL effects, in the genetic variation for the measured traits in present study.

  1. Using regulatory and epistatic networks to extend the findings of a genome scan: identifying the gene drivers of pigmentation in merino sheep.

    Elsa García-Gámez

    Full Text Available Extending genome wide association analysis by the inclusion of gene expression data may assist in the dissection of complex traits. We examined piebald, a pigmentation phenotype in both human and Merino sheep, by analysing multiple data types using a systems approach. First, a case control analysis of 49,034 ovine SNP was performed which confirmed a multigenic basis for the condition. We combined these results with gene expression data from five tissue types analysed with a skin-specific microarray. Promoter sequence analysis of differentially expressed genes allowed us to reverse-engineer a regulatory network. Likewise, by testing two-loci models derived from all pair-wise comparisons across piebald-associated SNP, we generated an epistatic network. At the intersection of both networks, we identified thirteen genes with insulin-like growth factor binding protein 7 (IGFBP7, platelet-derived growth factor alpha (PDGFRA and the tetraspanin platelet activator CD9 at the kernel of the intersection. Further, we report a number of differentially expressed genes in regions containing highly associated SNP including ATRN, DOCK7, FGFR1OP, GLI3, SILV and TBX15. The application of network theory facilitated co-analysis of genetic variation with gene expression, recapitulated aspects of the known molecular biology of skin pigmentation and provided insights into the transcription regulation and epistatic interactions involved in piebald Merino sheep.

  2. A global solution for the gravity field, rotation, landmarks and ephemeris of Eros

    Konopliv, A. S.; Miller, J. K.; Owen, W. M.; Yeomans, D. K.; Giorgini, J. D.; Garmier, R.; Barriot, J. P.

    2001-01-01

    This solution uses the entire one-year in orbit collection of X-band radiometric tracking (Doppler and range) from the Deep Space Network and landmark tracking observations generated from the NEAR spacecraft images of Eros.

  3. Cálculo distribuido de landmarks para sistemas de planificación multiagente

    Oropesa Física, Ana

    2013-01-01

    En este Proyecto Final de Carrera se verá la motivación por la que hacer una heurística multiagente utilizando landmarks, la construcción de ésta y unos posteriores resultados y comparativas con la heurística monoagente entre otras. Oropesa Física, A. (2013). Cálculo distribuido de landmarks para sistemas de planificación multiagente. http://hdl.handle.net/10251/32520. Archivo delegado

  4. An Efficient Ceiling-view SLAM Using Relational Constraints Between Landmarks

    Hyukdoo Choi; Ryunseok Kim; Euntai Kim

    2014-01-01

    In this paper, we present a new indoor ‘simultaneous localization and mapping’ (SLAM) technique based on an upward-looking ceiling camera. Adapted from our previous work [17], the proposed method employs sparsely-distributed line and point landmarks in an indoor environment to aid with data association and reduce extended Kalman filter computation as compared with earlier techniques. Further, the proposed method exploits geometric relationships between the two types of landmarks to provide ad...

  5. EXPLOITING 3D ULTRASOUND FOR FETAL DIAGNOSTIC PURPOSE THROUGH FACIAL LANDMARKING

    Enrico Vezzetti; Domenico Speranza; Federica Marcolin; Giulia Fracastoro; Giorgia Buscicchio

    2014-01-01

    In the last decade, three-dimensional landmarking has gained attention for different applications, such as face recognition for both identification of suspects and authentication, facial expression recognition, corrective and aesthetic surgery, syndrome study and diagnosis. This work focuses on the last one by proposing a geometrically-based landmark extraction algorithm aimed at diagnosing syndromes on babies before their birth. Pivotal role in this activity is the support provided by physic...

  6. Effects of image enhancement on reliability of landmark identification in digital cephalometry

    M Oshagh

    2013-01-01

    Full Text Available Introduction: Although digital cephalometric radiography is gaining popularity in orthodontic practice, the most important source of error in its tracing is uncertainty in landmark identification. Therefore, efforts to improve accuracy in landmark identification were directed primarily toward the improvement in image quality. One of the more useful techniques of this process involves digital image enhancement which can increase overall visual quality of image, but this does not necessarily mean a better identification of landmarks. The purpose of this study was to evaluate the effectiveness of digital image enhancements on reliability of landmark identification. Materials and Methods: Fifteen common landmarks including 10 skeletal and 5 soft tissues were selected on the cephalograms of 20 randomly selected patients, prepared in Natural Head Position (NHP. Two observers (orthodontists identified landmarks on the 20 original photostimulable phosphor (PSP digital cephalogram images and 20 enhanced digital images twice with an intervening time interval of at least 4 weeks. The x and y coordinates were further analyzed to evaluate the pattern of recording differences in horizontal and vertical directions. Reliability of landmarks identification was analyzed by paired t test. Results: There was a significant difference between original and enhanced digital images in terms of reliability of points Ar and N in vertical and horizontal dimensions, and enhanced images were significantly more reliable than original images. Identification of A point, Pogonion and Pronasal points, in vertical dimension of enhanced images was significantly more reliable than original ones. Reliability of Menton point identification in horizontal dimension was significantly more in enhanced images than original ones. Conclusion: Direct digital image enhancement by altering brightness and contrast can increase reliability of some landmark identification and this may lead to more

  7. Insite: Canada's landmark safe injecting program at risk

    Drucker Ernest

    2006-08-01

    Full Text Available Abstract InSite is North Americas first supervised injection site and a landmark public heath initiative operating in Vancouver since 2003. The program is a vital component of that cities internationally recognized harm reduction approach to its serious problems with drugs, crime, homelessness and AIDS. InSite currently operates under a waiver of Federal rules that allow it to provide services as a research project. An extensive evaluation has produced very positive results for thousands of users. Normally such strong evidence documenting the successes of such a program, and the medical and public health significance of these positive outcomes, would be the basis for celebration and moves to expand the model and provide similar services elsewhere in Canada. Instead, there is a distinct possibility that InSite will be closed by the newly elected Canadian Prime Minister Paul Harper – a conservative who has traveled to the US to visit George WQ Bush and come back antagonistic to harm reduction in all its forms. Because InSites federal waiver is expiring and up for renewal in September, the fear is that Mr. Harpers will not renew the approval and that the program will be forced to close down. The risks associated with the potential closure of InSite need to be fully understood. This editorial lays out these public health risks and the associated economic impact if InSite were to be closed. In addition to preventable deaths and disease, InSites closure will cost Vancouver and British Columbia between $3.8 and $ 8.8 million in preventable health care expenses over the next two years.

  8. Indirect building localization based on a prominent solid landmark from a forward-looking infrared imagery

    Xiaoping Wang; Tianxu Zhang; Xiaoyu Yang

    2011-01-01

    A novel indirect building localization technique based on a prominent solid landmark from a forwardlooking infrared imagery is proposed to localize low, deeply buried, or carefully camouflaged buildings in dense urban areas.First, the widely used effective methods are applied to detect and localize the solid landmark.The building target is then precisely indirectly localized by perspective transformation according to the imaging parameters and the space constraint relations between the building target and the solid landmark.Experimental results demonstrate this technique can indirectly localize buildings in dense urban areas effectively.%@@ A novel indirect building localization technique based on a prominent solid landmark from a forward-looking infrared imagery is proposed to localize low, deeply buried, or carefully camouflaged buildings in dense urban areas.First, the widely used effective methods are applied to detect and localize the solid landmark.The building target is then precisely indirectly localized by perspective transformation according to the imaging parameters and the space constraint relations between the building target and the solid landmark.Experimental results demonstrate this technique can indirectly localize buildings in dense urban areas effectively.

  9. Ultrasound Guided Internal Jugular Venous Cannulation: Comparison with Land-Mark Technique

    Objective: To compare real-time ultrasonography-guided technique versus the traditional land-mark technique for internal Jugular venous cannulation. Study Design: Randomized controlled trial. Place and Duration of Study: Department of Anaesthesia, Combined Military Hospital, Rawalpindi, from September 2013 to July 2014. Methodology:Atotal of 200 patients who required internal jugular vein cannulation were randomly assigned using either real-time ultrasound-guided technique or land-mark technique. Access time, number of attempts until successful cannulation, complications and the demographics of each patient were recorded. Results:Access time was significantly less in real-time ultrasound group (34.95 ± 11.47 vs. 146.59 ± 40.20 seconds, p < 0.001). Cannulation was performed in first attempt in 99 percentage of patients in ultrasound group as compared to 89 percentage of landmark group. Complication rate was significantly higher in the land-mark group than in the ultrasound-guided group. Carotid artery puncture rate (9 percentage vs. 1 percentage) and haematoma formation (7 percentage vs. 0 percentage) were more frequent in the land-mark group than in the ultrasound-guided group. Brachial plexus irritation was also more in land-mark group (6 percentage vs. 0 percentage). Conclusion:Access time, failure rate and procedure related complications are reduced when real-time ultrasonography is used to cannulate internal Jugular vein. (author)

  10. Chromosome landmarks as tools to study the genome of Arabidopsis thaliana

    Široký, Jiří

    2008-01-01

    Roč. 120, 3-4 (2008), s. 202-209. ISSN 1424-8581 R&D Projects: GA ČR(CZ) GA522/06/0380; GA MŠk(CZ) LC06004 Institutional research plan: CEZ:AV0Z50040507; CEZ:AV0Z50040702 Keywords : Arabidopsis * chromosomes * FISH Subject RIV: BO - Biophysics Impact factor: 1.965, year: 2008