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Sample records for previously published gwas

  1. Analysis of 60 reported glioma risk SNPs replicates published GWAS findings but fails to replicate associations from published candidate-gene studies.

    Science.gov (United States)

    Walsh, Kyle M; Anderson, Erik; Hansen, Helen M; Decker, Paul A; Kosel, Matt L; Kollmeyer, Thomas; Rice, Terri; Zheng, Shichun; Xiao, Yuanyuan; Chang, Jeffrey S; McCoy, Lucie S; Bracci, Paige M; Wiemels, Joe L; Pico, Alexander R; Smirnov, Ivan; Lachance, Daniel H; Sicotte, Hugues; Eckel-Passow, Jeanette E; Wiencke, John K; Jenkins, Robert B; Wrensch, Margaret R

    2013-02-01

    Genomewide association studies (GWAS) and candidate-gene studies have implicated single-nucleotide polymorphisms (SNPs) in at least 45 different genes as putative glioma risk factors. Attempts to validate these associations have yielded variable results and few genetic risk factors have been consistently replicated. We conducted a case-control study of Caucasian glioma cases and controls from the University of California San Francisco (810 cases, 512 controls) and the Mayo Clinic (852 cases, 789 controls) in an attempt to replicate previously reported genetic risk factors for glioma. Sixty SNPs selected from the literature (eight from GWAS and 52 from candidate-gene studies) were successfully genotyped on an Illumina custom genotyping panel. Eight SNPs in/near seven different genes (TERT, EGFR, CCDC26, CDKN2A, PHLDB1, RTEL1, TP53) were significantly associated with glioma risk in the combined dataset (P 0.05). Although several confirmed associations are located near genes long known to be involved in gliomagenesis (e.g., EGFR, CDKN2A, TP53), these associations were first discovered by the GWAS approach and are in noncoding regions. These results highlight that the deficiencies of the candidate-gene approach lay in selecting both appropriate genes and relevant SNPs within these genes. © 2012 WILEY PERIODICALS, INC.

  2. Availability of nuclear decay data in electronic form, including beta spectra not previously published

    International Nuclear Information System (INIS)

    Eckerman, K.F.; Westfall, R.J.; Ryman, J.C.; Cristy, M.

    1994-01-01

    The unabridged data used in preparing ICRP Publication 38 (1983) and a monograph of the Medical Internal Radiation Dose (MIRD) Committee are now available in electronic form. The open-quotes ICRP38 collectionclose quotes contains data on the energies and intensities of radiations emitted by 825 radionuclides (those in ICRP Publication 38 plus 13 from the MIRD monograph), and the open-quotes MIRD collectionclose quotes contains data on 242 radionuclides. Each collection consists of a radiations data file and a beta spectra data file. The radiations data file contains the complete listing of the emitted radiations, their types, mean or unique energies, and absolute intensities for each radionuclide, the probability that a beta particle will be emitted with kinetic energies defined by a standard energy grid. Although summary information from the radiation data files has been published, neither the unabridged data nor the beta spectra have been published. These data files and a data extraction utility, which runs on a personal computer, are available from the Radiation Shielding Information Center at Oak Ridge National Laboratory. 13 refs., 1 fig., 6 tabs

  3. List of new names and new combinations previously effectively, but not validly, published.

    Science.gov (United States)

    2008-09-01

    The purpose of this announcement is to effect the valid publication of the following effectively published new names and new combinations under the procedure described in the Bacteriological Code (1990 Revision). Authors and other individuals wishing to have new names and/or combinations included in future lists should send three copies of the pertinent reprint or photocopies thereof, or an electronic copy of the published paper, to the IJSEM Editorial Office for confirmation that all of the other requirements for valid publication have been met. It is also a requirement of IJSEM and the ICSP that authors of new species, new subspecies and new combinations provide evidence that types are deposited in two recognized culture collections in two different countries (i.e. documents certifying deposition and availability of type strains). It should be noted that the date of valid publication of these new names and combinations is the date of publication of this list, not the date of the original publication of the names and combinations. The authors of the new names and combinations are as given below, and these authors' names will be included in the author index of the present issue and in the volume author index. Inclusion of a name on these lists validates the publication of the name and thereby makes it available in bacteriological nomenclature. The inclusion of a name on this list is not to be construed as taxonomic acceptance of the taxon to which the name is applied. Indeed, some of these names may, in time, be shown to be synonyms, or the organisms may be transferred to another genus, thus necessitating the creation of a new combination.

  4. The AraGWAS Catalog: a curated and standardized Arabidopsis thaliana GWAS catalog

    Science.gov (United States)

    Togninalli, Matteo; Seren, Ümit; Meng, Dazhe; Fitz, Joffrey; Nordborg, Magnus; Weigel, Detlef

    2018-01-01

    Abstract The abundance of high-quality genotype and phenotype data for the model organism Arabidopsis thaliana enables scientists to study the genetic architecture of many complex traits at an unprecedented level of detail using genome-wide association studies (GWAS). GWAS have been a great success in A. thaliana and many SNP-trait associations have been published. With the AraGWAS Catalog (https://aragwas.1001genomes.org) we provide a publicly available, manually curated and standardized GWAS catalog for all publicly available phenotypes from the central A. thaliana phenotype repository, AraPheno. All GWAS have been recomputed on the latest imputed genotype release of the 1001 Genomes Consortium using a standardized GWAS pipeline to ensure comparability between results. The catalog includes currently 167 phenotypes and more than 222 000 SNP-trait associations with P < 10−4, of which 3887 are significantly associated using permutation-based thresholds. The AraGWAS Catalog can be accessed via a modern web-interface and provides various features to easily access, download and visualize the results and summary statistics across GWAS. PMID:29059333

  5. easyGWAS: A Cloud-Based Platform for Comparing the Results of Genome-Wide Association Studies.

    Science.gov (United States)

    Grimm, Dominik G; Roqueiro, Damian; Salomé, Patrice A; Kleeberger, Stefan; Greshake, Bastian; Zhu, Wangsheng; Liu, Chang; Lippert, Christoph; Stegle, Oliver; Schölkopf, Bernhard; Weigel, Detlef; Borgwardt, Karsten M

    2017-01-01

    The ever-growing availability of high-quality genotypes for a multitude of species has enabled researchers to explore the underlying genetic architecture of complex phenotypes at an unprecedented level of detail using genome-wide association studies (GWAS). The systematic comparison of results obtained from GWAS of different traits opens up new possibilities, including the analysis of pleiotropic effects. Other advantages that result from the integration of multiple GWAS are the ability to replicate GWAS signals and to increase statistical power to detect such signals through meta-analyses. In order to facilitate the simple comparison of GWAS results, we present easyGWAS, a powerful, species-independent online resource for computing, storing, sharing, annotating, and comparing GWAS. The easyGWAS tool supports multiple species, the uploading of private genotype data and summary statistics of existing GWAS, as well as advanced methods for comparing GWAS results across different experiments and data sets in an interactive and user-friendly interface. easyGWAS is also a public data repository for GWAS data and summary statistics and already includes published data and results from several major GWAS. We demonstrate the potential of easyGWAS with a case study of the model organism Arabidopsis thaliana , using flowering and growth-related traits. © 2016 American Society of Plant Biologists. All rights reserved.

  6. Reproducibility discrepancies following reanalysis of raw data for a previously published study on diisononyl phthalate (DINP in rats

    Directory of Open Access Journals (Sweden)

    Min Chen

    2017-08-01

    Full Text Available A 2011 publication by Boberg et al. entitled “Reproductive and behavioral effects of diisononyl phthalate (DINP in perinatally exposed rats” [1] reported statistically significant changes in sperm parameters, testicular histopathology, anogenital distance and retained nipples in developing males. Using the statistical methods as reported by Boberg et al. (2011 [1], we reanalyzed the publically available raw data ([dataset] US EPA (United States Environmental Protection Agency, 2016 [2]. The output of our reanalysis and the discordances with the data as published in Boberg et al. (2011 [1] are highlighted herein. Further discussion of the basis for the replication discordances and the insufficiency of the Boberg et al. (2011 [1] response to address them can be found in a companion letter of correspondence (doi: 10.1016/j.reprotox.2017.03.013.; (Morfeld et al., 2011 [3].

  7. Is email a reliable means of contacting authors of previously published papers? A study of the Emergency Medicine Journal for 2001.

    Science.gov (United States)

    O'Leary, F

    2003-07-01

    To determine whether it is possible to contact authors of previously published papers via email. A cross sectional study of the Emergency Medicine Journal for 2001. 118 articles were included in the study. The response rate from those with valid email addresses was 73%. There was no statistical difference between the type of email address used and the address being invalid (p=0.392) or between the type of article and the likelihood of a reply (p=0.197). More responses were obtained from work addresses when compared with Hotmail addresses (86% v 57%, p=0.02). Email is a valid means of contacting authors of previously published articles, particularly within the emergency medicine specialty. A work based email address may be a more valid means of contact than a Hotmail address.

  8. Transethnic differences in GWAS signals: A simulation study.

    Science.gov (United States)

    Zanetti, Daniela; Weale, Michael E

    2018-05-07

    Genome-wide association studies (GWASs) have allowed researchers to identify thousands of single nucleotide polymorphisms (SNPs) and other variants associated with particular complex traits. Previous studies have reported differences in the strength and even the direction of GWAS signals across different populations. These differences could be due to a combination of (1) lack of power, (2) allele frequency differences, (3) linkage disequilibrium (LD) differences, and (4) true differences in causal variant effect sizes. To determine whether properties (1)-(3) on their own might be sufficient to explain the patterns previously noted in strong GWAS signals, we simulated case-control data of European, Asian and African ancestry, applying realistic allele frequencies and LD from 1000 Genomes data but enforcing equal causal effect sizes across populations. Much of the observed differences in strong GWAS signals could indeed be accounted for by allele frequency and LD differences, enhanced by the Euro-centric SNP bias and lower SNP coverage found in older GWAS panels. While we cannot rule out a role for true transethnic effect size differences, our results suggest that strong causal effects may be largely shared among human populations, motivating the use of transethnic data for fine-mapping. © 2018 John Wiley & Sons Ltd/University College London.

  9. Compilation of new and previously published geochemical and modal data for Mesoproterozoic igneous rocks of the St. Francois Mountains, southeast Missouri

    Science.gov (United States)

    du Bray, Edward A.; Day, Warren C.; Meighan, Corey J.

    2018-04-16

    The purpose of this report is to present recently acquired as well as previously published geochemical and modal petrographic data for igneous rocks in the St. Francois Mountains, southeast Missouri, as part of an ongoing effort to understand the regional geology and ore deposits of the Mesoproterozoic basement rocks of southeast Missouri, USA. The report includes geochemical data that is (1) newly acquired by the U.S. Geological Survey and (2) compiled from numerous sources published during the last fifty-five years. These data are required for ongoing petrogenetic investigations of these rocks. Voluminous Mesoproterozoic igneous rocks in the St. Francois Mountains of southeast Missouri constitute the basement buried beneath Paleozoic sedimentary rock that is over 600 meters thick in places. The Mesoproterozoic rocks of southeast Missouri represent a significant component of approximately 1.4 billion-year-old (Ga) igneous rocks that crop out extensively in North America along the southeast margin of Laurentia and subsequent researchers suggested that iron oxide-copper deposits in the St. Francois Mountains are genetically associated with ca. 1.4 Ga magmatism in this region. The geochemical and modal data sets described herein were compiled to support investigations concerning the tectonic setting and petrologic processes responsible for the associated magmatism.

  10. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

    Science.gov (United States)

    Bossini-Castillo, Lara; Martin, Jose-Ezequiel; Broen, Jasper; Gorlova, Olga; Simeón, Carmen P.; Beretta, Lorenzo; Vonk, Madelon C.; Luis Callejas, Jose; Castellví, Ivan; Carreira, Patricia; José García-Hernández, Francisco; Fernández Castro, Mónica; Coenen, Marieke J.H.; Riemekasten, Gabriela; Witte, Torsten; Hunzelmann, Nicolas; Kreuter, Alexander; Distler, Jörg H.W.; Koeleman, Bobby P.; Voskuyl, Alexandre E.; Schuerwegh, Annemie J.; Palm, Øyvind; Hesselstrand, Roger; Nordin, Annika; Airó, Paolo; Lunardi, Claudio; Scorza, Raffaella; Shiels, Paul; van Laar, Jacob M.; Herrick, Ariane; Worthington, Jane; Denton, Christopher; Tan, Filemon K.; Arnett, Frank C.; Agarwal, Sandeep K.; Assassi, Shervin; Fonseca, Carmen; Mayes, Maureen D.; Radstake, Timothy R.D.J.; Martin, Javier

    2012-01-01

    A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs in the IL12RB2 region (2309 SSc patients and 5161 controls). We then selected three SNPs (rs3790567, rs3790566 and rs924080) based on their significance level in the GWAS, for follow-up in an independent European cohort comprising 3344 SSc and 3848 controls. The most-associated SNP (rs3790567) was further tested in an independent cohort comprising 597 SSc patients and 1139 controls from the USA. After conditional logistic regression analysis of the GWAS data, we selected rs3790567 [PMH= 1.92 × 10−5 odds ratio (OR) = 1.19] as the genetic variant with the firmest independent association observed in the analyzed GWAS peak of association. After the first follow-up phase, only the association of rs3790567 was consistent (PMH= 4.84 × 10−3 OR = 1.12). The second follow-up phase confirmed this finding (Pχ2 = 2.82 × 10−4 OR = 1.34). After performing overall pooled-analysis of all the cohorts included in the present study, the association found for the rs3790567 SNP in the IL12RB2 gene region reached GWAS-level significant association (PMH= 2.82 × 10−9 OR = 1.17). Our data clearly support the IL12RB2 genetic association with SSc, and suggest a relevant role of the interleukin 12 signaling pathway in SSc pathogenesis. PMID:22076442

  11. Unsupervised text mining for assessing and augmenting GWAS results.

    Science.gov (United States)

    Ailem, Melissa; Role, François; Nadif, Mohamed; Demenais, Florence

    2016-04-01

    Text mining can assist in the analysis and interpretation of large-scale biomedical data, helping biologists to quickly and cheaply gain confirmation of hypothesized relationships between biological entities. We set this question in the context of genome-wide association studies (GWAS), an actively emerging field that contributed to identify many genes associated with multifactorial diseases. These studies allow to identify groups of genes associated with the same phenotype, but provide no information about the relationships between these genes. Therefore, our objective is to leverage unsupervised text mining techniques using text-based cosine similarity comparisons and clustering applied to candidate and random gene vectors, in order to augment the GWAS results. We propose a generic framework which we used to characterize the relationships between 10 genes reported associated with asthma by a previous GWAS. The results of this experiment showed that the similarities between these 10 genes were significantly stronger than would be expected by chance (one-sided p-value<0.01). The clustering of observed and randomly selected gene also allowed to generate hypotheses about potential functional relationships between these genes and thus contributed to the discovery of new candidate genes for asthma. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Microbial genome-wide association studies: lessons from human GWAS.

    Science.gov (United States)

    Power, Robert A; Parkhill, Julian; de Oliveira, Tulio

    2017-01-01

    The reduced costs of sequencing have led to whole-genome sequences for a large number of microorganisms, enabling the application of microbial genome-wide association studies (GWAS). Given the successes of human GWAS in understanding disease aetiology and identifying potential drug targets, microbial GWAS are likely to further advance our understanding of infectious diseases. These advances include insights into pressing global health problems, such as antibiotic resistance and disease transmission. In this Review, we outline the methodologies of GWAS, the current state of the field of microbial GWAS, and how lessons from human GWAS can direct the future of the field.

  13. A compendium of P- and S-wave velocities from surface-to-borehole logging; summary and reanalysis of previously published data and analysis of unpublished data

    Science.gov (United States)

    Boore, David M.

    2003-01-01

    For over 28 years, the U.S. Geological Survey (USGS) has been acquiring seismic velocity and geologic data at a number of locations in California, many of which were chosen because strong ground motions from earthquakes were recorded at the sites. The method for all measurements involves picking first arrivals of P- and S-waves from a surface source recorded at various depths in a borehole (as opposed to noninvasive methods, such as the SASW method [e.g., Brown et al., 2002]). The results from most of the sites are contained in a series of U.S. Geological Survey Open-File Reports (see References). Until now, none of the results have been available as computer files, and before 1992 the interpretation of the arrival times was in terms of piecemeal interval velocities, with no attempt to derive a layered model that would fit the travel times in an overall sense (the one exception is Porcella, 1984). In this report I reanalyze all of the arrival times in terms of layered models for P- and for S-wave velocities at each site, and I provide the results as computer files. In addition to the measurements reported in the open-file reports, I also include some borehole results from other reports, as well as some results never before published. I include data for 277 boreholes (at the time of this writing; more will be added to the web site as they are obtained), all in California (I have data from boreholes in Washington and Utah, but these will be published separately). I am also in the process of interpreting travel time data obtained using a seismic cone penetrometer at hundreds of sites; these data can be interpreted in the same way of those obtained from surface-to-borehole logging. When available, the data will be added to the web site (see below for information on obtaining data from the World Wide Web (WWW)). In addition to the basic borehole data and results, I provide information concerning strong-motion stations that I judge to be close enough to the boreholes

  14. Men without a sense of smell exhibit a strongly reduced number of sexual relationships, women exhibit reduced partnership security - a reanalysis of previously published data.

    Science.gov (United States)

    Croy, Ilona; Bojanowski, Viola; Hummel, Thomas

    2013-02-01

    Olfactory function influences social behavior. For instance, olfaction seems to play a key role in mate choice and helps detecting emotions in other people. In a previous study, we showed that people who were born without a sense of smell exhibit enhanced social insecurity. Based on the comments to this article we decided to have a closer look to whether the absence of the sense of smell affects men and women differently. Under this focus questionnaire data of 32 patients, diagnosed with isolated congenital anosmia (10 men, 22 women) and 36 age-matched healthy controls (15 men, 21 women) was reanalyzed. In result, men and women without a sense of smell reported enhanced social insecurity, but with different consequences: Men who were born without a sense of smell exhibit a strongly reduced number of sexual relationships and women are affected such that they feel less secure about their partner. This emphasizes the importance of the sense of smell for intimate relationships. Copyright © 2012 Elsevier B.V. All rights reserved.

  15. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

    Science.gov (United States)

    Nakayama, Akiyoshi; Nakaoka, Hirofumi; Yamamoto, Ken; Sakiyama, Masayuki; Shaukat, Amara; Toyoda, Yu; Okada, Yukinori; Kamatani, Yoichiro; Nakamura, Takahiro; Takada, Tappei; Inoue, Katsuhisa; Yasujima, Tomoya; Yuasa, Hiroaki; Shirahama, Yuko; Nakashima, Hiroshi; Shimizu, Seiko; Higashino, Toshihide; Kawamura, Yusuke; Ogata, Hiraku; Kawaguchi, Makoto; Ohkawa, Yasuyuki; Danjoh, Inaho; Tokumasu, Atsumi; Ooyama, Keiko; Ito, Toshimitsu; Kondo, Takaaki; Wakai, Kenji; Stiburkova, Blanka; Pavelka, Karel; Stamp, Lisa K; Dalbeth, Nicola; Sakurai, Yutaka; Suzuki, Hiroshi; Hosoyamada, Makoto; Fujimori, Shin; Yokoo, Takashi; Hosoya, Tatsuo; Inoue, Ituro; Takahashi, Atsushi; Kubo, Michiaki; Ooyama, Hiroshi; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi; Merriman, Tony R; Matsuo, Hirotaka

    2017-05-01

    A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (pgout cases, and NIPAL1 and FAM35A for the renal underexcretion gout subtype. While NIPAL1 encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and FAM35A was associated with gout in all cases. A meta-analysis of the three populations revealed FAM35A to be associated with gout at a genome-wide level of significance (p meta =3.58×10 -8 ). Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  16. Multispecies, Integrative GWAS for Focal Segmental Glomerulosclerosis

    Science.gov (United States)

    2017-09-01

    searching existing data sources, gathering and maintaining the data needed, and completing and reviewing the collection of information. Send comments...is a frequent cause of end-stage renal disease (ESRD. We investigated the genetic basis of FSGS and recruited a heterogeneous population of...understanding the complex genetic mechanisms of FSGS. 15. SUBJECT TERMS FSGS, MCD, GWAS, CNV  16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF ABSTRACT uu

  17. Testing Genetic Pleiotropy with GWAS Summary Statistics for Marginal and Conditional Analyses.

    Science.gov (United States)

    Deng, Yangqing; Pan, Wei

    2017-12-01

    There is growing interest in testing genetic pleiotropy, which is when a single genetic variant influences multiple traits. Several methods have been proposed; however, these methods have some limitations. First, all the proposed methods are based on the use of individual-level genotype and phenotype data; in contrast, for logistical, and other, reasons, summary statistics of univariate SNP-trait associations are typically only available based on meta- or mega-analyzed large genome-wide association study (GWAS) data. Second, existing tests are based on marginal pleiotropy, which cannot distinguish between direct and indirect associations of a single genetic variant with multiple traits due to correlations among the traits. Hence, it is useful to consider conditional analysis, in which a subset of traits is adjusted for another subset of traits. For example, in spite of substantial lowering of low-density lipoprotein cholesterol (LDL) with statin therapy, some patients still maintain high residual cardiovascular risk, and, for these patients, it might be helpful to reduce their triglyceride (TG) level. For this purpose, in order to identify new therapeutic targets, it would be useful to identify genetic variants with pleiotropic effects on LDL and TG after adjusting the latter for LDL; otherwise, a pleiotropic effect of a genetic variant detected by a marginal model could simply be due to its association with LDL only, given the well-known correlation between the two types of lipids. Here, we develop a new pleiotropy testing procedure based only on GWAS summary statistics that can be applied for both marginal analysis and conditional analysis. Although the main technical development is based on published union-intersection testing methods, care is needed in specifying conditional models to avoid invalid statistical estimation and inference. In addition to the previously used likelihood ratio test, we also propose using generalized estimating equations under the

  18. Controlling the Rate of GWAS False Discoveries.

    Science.gov (United States)

    Brzyski, Damian; Peterson, Christine B; Sobczyk, Piotr; Candès, Emmanuel J; Bogdan, Malgorzata; Sabatti, Chiara

    2017-01-01

    With the rise of both the number and the complexity of traits of interest, control of the false discovery rate (FDR) in genetic association studies has become an increasingly appealing and accepted target for multiple comparison adjustment. While a number of robust FDR-controlling strategies exist, the nature of this error rate is intimately tied to the precise way in which discoveries are counted, and the performance of FDR-controlling procedures is satisfactory only if there is a one-to-one correspondence between what scientists describe as unique discoveries and the number of rejected hypotheses. The presence of linkage disequilibrium between markers in genome-wide association studies (GWAS) often leads researchers to consider the signal associated to multiple neighboring SNPs as indicating the existence of a single genomic locus with possible influence on the phenotype. This a posteriori aggregation of rejected hypotheses results in inflation of the relevant FDR. We propose a novel approach to FDR control that is based on prescreening to identify the level of resolution of distinct hypotheses. We show how FDR-controlling strategies can be adapted to account for this initial selection both with theoretical results and simulations that mimic the dependence structure to be expected in GWAS. We demonstrate that our approach is versatile and useful when the data are analyzed using both tests based on single markers and multiple regression. We provide an R package that allows practitioners to apply our procedure on standard GWAS format data, and illustrate its performance on lipid traits in the North Finland Birth Cohort 66 cohort study. Copyright © 2017 by the Genetics Society of America.

  19. Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

    Science.gov (United States)

    Clemens, Daniel J; Lentino, Anne R; Kapplinger, Jamie D; Ye, Dan; Zhou, Wei; Tester, David J; Ackerman, Michael J

    2018-04-01

    Mutations in the KCNQ1-encoded Kv7.1 potassium channel cause long QT syndrome (LQTS) type 1 (LQT1). It has been suggested that ∼10%-20% of rare LQTS case-derived variants in the literature may have been published erroneously as LQT1-causative mutations and may be "false positives." The purpose of this study was to determine which previously published KCNQ1 case variants are likely false positives. A list of all published, case-derived KCNQ1 missense variants (MVs) was compiled. The occurrence of each MV within the Genome Aggregation Database (gnomAD) was assessed. Eight in silico tools were used to predict each variant's pathogenicity. Case-derived variants that were either (1) too frequently found in gnomAD or (2) absent in gnomAD but predicted to be pathogenic by ≤2 tools were considered potential false positives. Three of these variants were characterized functionally using whole-cell patch clamp technique. Overall, there were 244 KCNQ1 case-derived MVs. Of these, 29 (12%) were seen in ≥10 individuals in gnomAD and are demotable. However, 157 of 244 MVs (64%) were absent in gnomAD. Of these, 7 (4%) were predicted to be pathogenic by ≤2 tools, 3 of which we characterized functionally. There was no significant difference in current density between heterozygous KCNQ1-F127L, -P477L, or -L619M variant-containing channels compared to KCNQ1-WT. This study offers preliminary evidence for the demotion of 32 (13%) previously published LQT1 MVs. Of these, 29 were demoted because of their frequent sighting in gnomAD. Additionally, in silico analysis and in vitro functional studies have facilitated the demotion of 3 ultra-rare MVs (F127L, P477L, L619M). Copyright © 2017 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  20. Re-Ranking Sequencing Variants in the Post-GWAS Era for Accurate Causal Variant Identification

    Science.gov (United States)

    Faye, Laura L.; Machiela, Mitchell J.; Kraft, Peter; Bull, Shelley B.; Sun, Lei

    2013-01-01

    Next generation sequencing has dramatically increased our ability to localize disease-causing variants by providing base-pair level information at costs increasingly feasible for the large sample sizes required to detect complex-trait associations. Yet, identification of causal variants within an established region of association remains a challenge. Counter-intuitively, certain factors that increase power to detect an associated region can decrease power to localize the causal variant. First, combining GWAS with imputation or low coverage sequencing to achieve the large sample sizes required for high power can have the unintended effect of producing differential genotyping error among SNPs. This tends to bias the relative evidence for association toward better genotyped SNPs. Second, re-use of GWAS data for fine-mapping exploits previous findings to ensure genome-wide significance in GWAS-associated regions. However, using GWAS findings to inform fine-mapping analysis can bias evidence away from the causal SNP toward the tag SNP and SNPs in high LD with the tag. Together these factors can reduce power to localize the causal SNP by more than half. Other strategies commonly employed to increase power to detect association, namely increasing sample size and using higher density genotyping arrays, can, in certain common scenarios, actually exacerbate these effects and further decrease power to localize causal variants. We develop a re-ranking procedure that accounts for these adverse effects and substantially improves the accuracy of causal SNP identification, often doubling the probability that the causal SNP is top-ranked. Application to the NCI BPC3 aggressive prostate cancer GWAS with imputation meta-analysis identified a new top SNP at 2 of 3 associated loci and several additional possible causal SNPs at these loci that may have otherwise been overlooked. This method is simple to implement using R scripts provided on the author's website. PMID:23950724

  1. GWAS-based pathway analysis differentiates between fluid and crystallized intelligence.

    Science.gov (United States)

    Christoforou, A; Espeseth, T; Davies, G; Fernandes, C P D; Giddaluru, S; Mattheisen, M; Tenesa, A; Harris, S E; Liewald, D C; Payton, A; Ollier, W; Horan, M; Pendleton, N; Haggarty, P; Djurovic, S; Herms, S; Hoffman, P; Cichon, S; Starr, J M; Lundervold, A; Reinvang, I; Steen, V M; Deary, I J; Le Hellard, S

    2014-09-01

    Cognitive abilities vary among people. About 40-50% of this variability is due to general intelligence (g), which reflects the positive correlation among individuals' scores on diverse cognitive ability tests. g is positively correlated with many life outcomes, such as education, occupational status and health, motivating the investigation of its underlying biology. In psychometric research, a distinction is made between general fluid intelligence (gF) - the ability to reason in novel situations - and general crystallized intelligence (gC) - the ability to apply acquired knowledge. This distinction is supported by developmental and cognitive neuroscience studies. Classical epidemiological studies and recent genome-wide association studies (GWASs) have established that these cognitive traits have a large genetic component. However, no robust genetic associations have been published thus far due largely to the known polygenic nature of these traits and insufficient sample sizes. Here, using two GWAS datasets, in which the polygenicity of gF and gC traits was previously confirmed, a gene- and pathway-based approach was undertaken with the aim of characterizing and differentiating their genetic architecture. Pathway analysis, using genes selected on the basis of relaxed criteria, revealed notable differences between these two traits. gF appeared to be characterized by genes affecting the quantity and quality of neurons and therefore neuronal efficiency, whereas long-term depression (LTD) seemed to underlie gC. Thus, this study supports the gF-gC distinction at the genetic level and identifies functional annotations and pathways worthy of further investigation. © 2014 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd.

  2. UPDG: Utilities package for data analysis of Pooled DNA GWAS

    Directory of Open Access Journals (Sweden)

    Ho Daniel WH

    2012-01-01

    Full Text Available Abstract Background Despite being a well-established strategy for cost reduction in disease gene mapping, pooled DNA association study is much less popular than the individual DNA approach. This situation is especially true for pooled DNA genomewide association study (GWAS, for which very few computer resources have been developed for its data analysis. This motivates the development of UPDG (Utilities package for data analysis of Pooled DNA GWAS. Results UPDG represents a generalized framework for data analysis of pooled DNA GWAS with the integration of Unix/Linux shell operations, Perl programs and R scripts. With the input of raw intensity data from GWAS, UPDG performs the following tasks in a stepwise manner: raw data manipulation, correction for allelic preferential amplification, normalization, nested analysis of variance for genetic association testing, and summarization of analysis results. Detailed instructions, procedures and commands are provided in the comprehensive user manual describing the whole process from preliminary preparation of software installation to final outcome acquisition. An example dataset (input files and sample output files is also included in the package so that users can easily familiarize themselves with the data file formats, working procedures and expected output. Therefore, UPDG is especially useful for users with some computer knowledge, but without a sophisticated programming background. Conclusions UPDG provides a free, simple and platform-independent one-stop service to scientists working on pooled DNA GWAS data analysis, but with less advanced programming knowledge. It is our vision and mission to reduce the hindrance for performing data analysis of pooled DNA GWAS through our contribution of UPDG. More importantly, we hope to promote the popularity of pooled DNA GWAS, which is a very useful research strategy.

  3. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

    Science.gov (United States)

    Pharoah, Paul D. P.; Tsai, Ya-Yu; Ramus, Susan J.; Phelan, Catherine M.; Goode, Ellen L.; Lawrenson, Kate; Price, Melissa; Fridley, Brooke L.; Tyrer, Jonathan P.; Shen, Howard; Weber, Rachel; Karevan, Rod; Larson, Melissa C.; Song, Honglin; Tessier, Daniel C.; Bacot, François; Vincent, Daniel; Cunningham, Julie M.; Dennis, Joe; Dicks, Ed; Aben, Katja K.; Anton-Culver, Hoda; Antonenkova, Natalia; Armasu, Sebastian M.; Baglietto, Laura; Bandera, Elisa V.; Beckmann, Matthias W.; Birrer, Michael J.; Bloom, Greg; Bogdanova, Natalia; Brenton, James D.; Brinton, Louise A.; Brooks-Wilson, Angela; Brown, Robert; Butzow, Ralf; Campbell, Ian; Carney, Michael E; Carvalho, Renato S.; Chang-Claude, Jenny; Chen, Y. Anne; Chen, Zhihua; Chow, Wong-Ho; Cicek, Mine S.; Coetzee, Gerhard; Cook, Linda S.; Cramer, Daniel W.; Cybulski, Cezary; Dansonka-Mieszkowska, Agnieszka; Despierre, Evelyn; Doherty, Jennifer A; Dörk, Thilo; du Bois, Andreas; Dürst, Matthias; Eccles, Diana; Edwards, Robert; Ekici, Arif B.; Fasching, Peter A.; Fenstermacher, David; Flanagan, James; Gao, Yu-Tang; Garcia-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Giles, Graham; Gjyshi, Anxhela; Gore, Martin; Gronwald, Jacek; Guo, Qi; Halle, Mari K; Harter, Philipp; Hein, Alexander; Heitz, Florian; Hillemanns, Peter; Hoatlin, Maureen; Høgdall, Estrid; Høgdall, Claus K.; Hosono, Satoyo; Jakubowska, Anna; Jensen, Allan; Kalli, Kimberly R.; Karlan, Beth Y.; Kelemen, Linda E.; Kiemeney, Lambertus A.; Kjaer, Susanne Krüger; Konecny, Gottfried E.; Krakstad, Camilla; Kupryjanczyk, Jolanta; Lambrechts, Diether; Lambrechts, Sandrina; Le, Nhu D.; Lee, Nathan; Lee, Janet; Leminen, Arto; Lim, Boon Kiong; Lissowska, Jolanta; Lubiński, Jan; Lundvall, Lene; Lurie, Galina; Massuger, Leon F.A.G.; Matsuo, Keitaro; McGuire, Valerie; McLaughlin, John R; Menon, Usha; Modugno, Francesmary; Moysich, Kirsten B.; Nakanishi, Toru; Narod, Steven A.; Ness, Roberta B.; Nevanlinna, Heli; Nickels, Stefan; Noushmehr, Houtan; Odunsi, Kunle; Olson, Sara; Orlow, Irene; Paul, James; Pejovic, Tanja; Pelttari, Liisa M; Permuth-Wey, Jenny; Pike, Malcolm C; Poole, Elizabeth M; Qu, Xiaotao; Risch, Harvey A.; Rodriguez-Rodriguez, Lorna; Rossing, Mary Anne; Rudolph, Anja; Runnebaum, Ingo; Rzepecka, Iwona K; Salvesen, Helga B.; Schwaab, Ira; Severi, Gianluca; Shen, Hui; Shridhar, Vijayalakshmi; Shu, Xiao-Ou; Sieh, Weiva; Southey, Melissa C.; Spellman, Paul; Tajima, Kazuo; Teo, Soo-Hwang; Terry, Kathryn L.; Thompson, Pamela J; Timorek, Agnieszka; Tworoger, Shelley S.; van Altena, Anne M.; Berg, David Van Den; Vergote, Ignace; Vierkant, Robert A.; Vitonis, Allison F.; Wang-Gohrke, Shan; Wentzensen, Nicolas; Whittemore, Alice S.; Wik, Elisabeth; Winterhoff, Boris; Woo, Yin Ling; Wu, Anna H; Yang, Hannah P.; Zheng, Wei; Ziogas, Argyrios; Zulkifli, Famida; Goodman, Marc T.; Hall, Per; Easton, Douglas F; Pearce, Celeste L; Berchuck, Andrew; Chenevix-Trench, Georgia; Iversen, Edwin; Monteiro, Alvaro N.A.; Gayther, Simon A.; Schildkraut, Joellen M.; Sellers, Thomas A.

    2013-01-01

    Genome wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC) with another two loci being close to genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the United Kingdom. We selected the top 24,551 SNPs for inclusion on the iCOGS custom genotyping array. Follow-up genotyping was carried out in 18,174 cases and 26,134 controls from 43 studies from the Ovarian Cancer Association Consortium. We validated the two loci at 3q25 and 17q21 previously near genome-wide significance and identified three novel loci associated with risk; two loci associated with all EOC subtypes, at 8q21 (rs11782652, P=5.5×10-9) and 10p12 (rs1243180; P=1.8×10-8), and another locus specific to the serous subtype at 17q12 (rs757210; P=8.1×10-10). An integrated molecular analysis of genes and regulatory regions at these loci provided evidence for functional mechanisms underlying susceptibility that implicates CHMP4C in the pathogenesis of ovarian cancer. PMID:23535730

  4. Lack of replication of previous autism spectrum disorder GWAS hits in European populations

    NARCIS (Netherlands)

    Torrico, B.; Chiocchetti, A.G.; Bacchelli, E.; Trabetti, E.; Hervas, A.; Franke, B.; Buitelaar, J.K.; Rommelse, N.N.J.; Yousaf, A.; Duketis, E.; Freitag, C.M.; Caballero-Andaluz, R.; Martinez-Mir, A.; Scholl, F.G.; Ribases, M.; Battaglia, A.; Malerba, G.; Delorme, R.; Benabou, M.; Maestrini, E.; Bourgeron, T.; Cormand, B.; Toma, C.

    2017-01-01

    Common variants contribute significantly to the genetics of autism spectrum disorder (ASD), although the identification of individual risk polymorphisms remains still elusive due to their small effect sizes and limited sample sizes available for association studies. During the last decade several

  5. Efficient Software for Multi-marker, Region-Based Analysis of GWAS Data

    Directory of Open Access Journals (Sweden)

    Jaleal S. Sanjak

    2016-04-01

    Full Text Available Genome-wide association studies (GWAS have associated many single variants with complex disease, yet the better part of heritable complex disease risk remains unexplained. Analytical tools designed to work under specific population genetic models are needed. Rare variants are increasingly shown to be important in human complex disease, but most existing GWAS data do not cover rare variants. Explicit population genetic models predict that genes contributing to complex traits and experiencing recurrent, unconditionally deleterious, mutation will harbor multiple rare, causative mutations of subtle effect. It is difficult to identify genes harboring rare variants of large effect that contribute to complex disease risk via the single marker association tests typically used in GWAS. Gene/region-based association tests may have the power detect associations by combining information from multiple markers, but have yielded limited success in practice. This is partially because many methods have not been widely applied. Here, we empirically demonstrate the utility of a procedure based on the rank truncated product (RTP method, filtered to reduce the effects of linkage disequilibrium. We apply the procedure to the Wellcome Trust Case Control Consortium (WTCCC data set, and uncover previously unidentified associations, some of which have been replicated in much larger studies. We show that, in the absence of significant rare variant coverage, RTP based methods still have the power to detect associated genes. We recommend that RTP-based methods be applied to all existing GWAS data to maximize the usefulness of those data. For this, we provide efficient software implementing our procedure.

  6. Desktop Publishing.

    Science.gov (United States)

    Stanley, Milt

    1986-01-01

    Defines desktop publishing, describes microcomputer developments and software tools that make it possible, and discusses its use as an instructional tool to improve writing skills. Reasons why students' work should be published, examples of what to publish, and types of software and hardware to facilitate publishing are reviewed. (MBR)

  7. Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations.

    Science.gov (United States)

    Seow, Wei Jie; Matsuo, Keitaro; Hsiung, Chao Agnes; Shiraishi, Kouya; Song, Minsun; Kim, Hee Nam; Wong, Maria Pik; Hong, Yun-Chul; Hosgood, H Dean; Wang, Zhaoming; Chang, I-Shou; Wang, Jiu-Cun; Chatterjee, Nilanjan; Tucker, Margaret; Wei, Hu; Mitsudomi, Tetsuya; Zheng, Wei; Kim, Jin Hee; Zhou, Baosen; Caporaso, Neil E; Albanes, Demetrius; Shin, Min-Ho; Chung, Lap Ping; An, She-Juan; Wang, Ping; Zheng, Hong; Yatabe, Yasushi; Zhang, Xu-Chao; Kim, Young Tae; Shu, Xiao-Ou; Kim, Young-Chul; Bassig, Bryan A; Chang, Jiang; Ho, James Chung Man; Ji, Bu-Tian; Kubo, Michiaki; Daigo, Yataro; Ito, Hidemi; Momozawa, Yukihide; Ashikawa, Kyota; Kamatani, Yoichiro; Honda, Takayuki; Sakamoto, Hiromi; Kunitoh, Hideo; Tsuta, Koji; Watanabe, Shun-Ichi; Nokihara, Hiroshi; Miyagi, Yohei; Nakayama, Haruhiko; Matsumoto, Shingo; Tsuboi, Masahiro; Goto, Koichi; Yin, Zhihua; Shi, Jianxin; Takahashi, Atsushi; Goto, Akiteru; Minamiya, Yoshihiro; Shimizu, Kimihiro; Tanaka, Kazumi; Wu, Tangchun; Wei, Fusheng; Wong, Jason Y Y; Matsuda, Fumihiko; Su, Jian; Kim, Yeul Hong; Oh, In-Jae; Song, Fengju; Lee, Victor Ho Fun; Su, Wu-Chou; Chen, Yuh-Min; Chang, Gee-Chen; Chen, Kuan-Yu; Huang, Ming-Shyan; Yang, Pan-Chyr; Lin, Hsien-Chih; Xiang, Yong-Bing; Seow, Adeline; Park, Jae Yong; Kweon, Sun-Seog; Chen, Chien-Jen; Li, Haixin; Gao, Yu-Tang; Wu, Chen; Qian, Biyun; Lu, Daru; Liu, Jianjun; Jeon, Hyo-Sung; Hsiao, Chin-Fu; Sung, Jae Sook; Tsai, Ying-Huang; Jung, Yoo Jin; Guo, Huan; Hu, Zhibin; Wang, Wen-Chang; Chung, Charles C; Lawrence, Charles; Burdett, Laurie; Yeager, Meredith; Jacobs, Kevin B; Hutchinson, Amy; Berndt, Sonja I; He, Xingzhou; Wu, Wei; Wang, Junwen; Li, Yuqing; Choi, Jin Eun; Park, Kyong Hwa; Sung, Sook Whan; Liu, Li; Kang, Chang Hyun; Hu, Lingmin; Chen, Chung-Hsing; Yang, Tsung-Ying; Xu, Jun; Guan, Peng; Tan, Wen; Wang, Chih-Liang; Sihoe, Alan Dart Loon; Chen, Ying; Choi, Yi Young; Hung, Jen-Yu; Kim, Jun Suk; Yoon, Ho-Il; Cai, Qiuyin; Lin, Chien-Chung; Park, In Kyu; Xu, Ping; Dong, Jing; Kim, Christopher; He, Qincheng; Perng, Reury-Perng; Chen, Chih-Yi; Vermeulen, Roel; Wu, Junjie; Lim, Wei-Yen; Chen, Kun-Chieh; Chan, John K C; Chu, Minjie; Li, Yao-Jen; Li, Jihua; Chen, Hongyan; Yu, Chong-Jen; Jin, Li; Lo, Yen-Li; Chen, Ying-Hsiang; Fraumeni, Joseph F; Liu, Jie; Yamaji, Taiki; Yang, Yang; Hicks, Belynda; Wyatt, Kathleen; Li, Shengchao A; Dai, Juncheng; Ma, Hongxia; Jin, Guangfu; Song, Bao; Wang, Zhehai; Cheng, Sensen; Li, Xuelian; Ren, Yangwu; Cui, Ping; Iwasaki, Motoki; Shimazu, Taichi; Tsugane, Shoichiro; Zhu, Junjie; Jiang, Gening; Fei, Ke; Wu, Guoping; Chien, Li-Hsin; Chen, Hui-Ling; Su, Yu-Chun; Tsai, Fang-Yu; Chen, Yi-Song; Yu, Jinming; Stevens, Victoria L; Laird-Offringa, Ite A; Marconett, Crystal N; Lin, Dongxin; Chen, Kexin; Wu, Yi-Long; Landi, Maria Teresa; Shen, Hongbing; Rothman, Nathaniel; Kohno, Takashi; Chanock, Stephen J; Lan, Qing

    2017-01-15

    To evaluate associations by EGFR mutation status for lung adenocarcinoma risk among never-smoking Asian women, we conducted a meta-analysis of 11 loci previously identified in genome-wide association studies (GWAS). Genotyping in an additional 10,780 never-smoking cases and 10,938 never-smoking controls from Asia confirmed associations with eight known single nucleotide polymorphisms (SNPs). Two new signals were observed at genome-wide significance (P Asian women and highlight the importance of how the germline could inform risk for specific tumour mutation patterns, which could have important translational implications. Published by Oxford University Press 2016. This work is written by US Government employees and is in the public domain in the US.

  8. Music publishing

    OpenAIRE

    Simões, Alberto; Almeida, J. J.

    2003-01-01

    Current music publishing in the Internet is mainly concerned with sound publishing. We claim that music publishing is not only to make sound available but also to define relations between a set of music objects like music scores, guitar chords, lyrics and their meta-data. We want an easy way to publish music in the Internet, to make high quality paper booklets and even to create Audio CD's. In this document we present a workbench for music publishing based on open formats, using open-source t...

  9. GWAS as a Driver of Gene Discovery in Cardiometabolic Diseases

    NARCIS (Netherlands)

    Atanasovska, Biljana; Kumar, Vinod; Fu, Jingyuan; Wijmenga, Cisca; Hofker, Marten H.

    2015-01-01

    Cardiometabolic diseases represent a common complex disorder with a strong genetic component. Currently, genome-wide association studies (GWAS) have yielded some 755 single-nucleotide polymorphisms (SNPs) encompassing 366 independent loci that may help to decipher the molecular basis of

  10. Genome-wide association studies (GWAS) of adiposity

    DEFF Research Database (Denmark)

    Oskari Kilpeläinen, Tuomas; Ingelsson, Erik

    2016-01-01

    Adiposity is strongly heritable and one of the leading risk factors for type 2 diabetes, cardiovascular disease, cancer, and premature death. In the past 8 years, genome-wide association studies (GWAS) have greatly increased our understanding of the genes and biological pathways that regulate...

  11. GWAS identifies four novel eosinophilic esophagitis loci

    NARCIS (Netherlands)

    Sleiman, Patrick M. A.; Wang, Mei-Lun; Cianferoni, Antonella; Aceves, Seema; Gonsalves, Nirmala; Nadeau, Kari; Bredenoord, Albert J.; Furuta, Glenn T.; Spergel, Jonathan M.; Hakonarson, Hakon

    2014-01-01

    Eosinophilic esophagitis (EoE) is an allergic disorder characterized by infiltration of the oesophagus with eosinophils. We had previously reported association of the TSLP/WDR36 locus with EoE. Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which

  12. Publisher Correction

    DEFF Research Database (Denmark)

    Turcot, Valérie; Lu, Yingchang; Highland, Heather M

    2018-01-01

    In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article.......In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article....

  13. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

    DEFF Research Database (Denmark)

    Pharoah, Paul D P; Tsai, Ya-Yu; Ramus, Susan J

    2013-01-01

    Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24...

  14. Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmacogenetic analyses

    Directory of Open Access Journals (Sweden)

    Stott David J

    2011-10-01

    Full Text Available Abstract Background The PHArmacogenetic study of Statins in the Elderly at risk (PHASE is a genome wide association study in the PROspective Study of Pravastatin in the Elderly at risk for vascular disease (PROSPER that investigates the genetic variation responsible for the individual variation in drug response to pravastatin. Statins lower LDL-cholesterol in general by 30%, however not in all subjects. Moreover, clinical response is highly variable and adverse effects occur in a minority of patients. In this report we first describe the rationale of the PROSPER/PHASE project and second show that the PROSPER/PHASE study can be used to study pharmacogenetics in the elderly. Methods The genome wide association study (GWAS was conducted using the Illumina 660K-Quad beadchips following manufacturer's instructions. After a stringent quality control 557,192 SNPs in 5,244 subjects were available for analysis. To maximize the availability of genetic data and coverage of the genome, imputation up to 2.5 million autosomal CEPH HapMap SNPs was performed with MACH imputation software. The GWAS for LDL-cholesterol is assessed with an additive linear regression model in PROBABEL software, adjusted for age, sex, and country of origin to account for population stratification. Results Forty-two SNPs reached the GWAS significant threshold of p = 5.0e-08 in 5 genomic loci (APOE/APOC1; LDLR; FADS2/FEN1; HMGCR; PSRC1/CELSR5. The top SNP (rs445925, chromosome 19 with a p-value of p = 2.8e-30 is located within the APOC1 gene and near the APOE gene. The second top SNP (rs6511720, chromosome 19 with a p-value of p = 5.22e-15 is located within the LDLR gene. All 5 genomic loci were previously associated with LDL-cholesterol levels, no novel loci were identified. Replication in WOSCOPS and CARE confirmed our results. Conclusion With the GWAS in the PROSPER/PHASE study we confirm the previously found genetic associations with LDL-cholesterol levels. With this proof

  15. Fasting Glucose GWAS Candidate Region Analysis across Ethnic Groups in the Multi-Ethnic Study of Atherosclerosis (MESA)

    OpenAIRE

    Rasmussen-Torvik, L. J.; Guo, X.; Bowden, D. W.; Bertoni, A. G.; Sale, M. M.; Yao, J.; Bluemke, D. A.; Goodarzi, M. O.; Chen, Y. I.; Vaidya, D.; Raffel, L. J.; Papanicolaou, G.J.; Meigs, J. B.; Pankow, J. S.

    2012-01-01

    Genetic variants associated with fasting glucose in European ancestry populations are increasingly well understood. However, the nature of the associations between these SNPs and fasting glucose in other racial and ethnic groups is unclear. We sought to examine regions previously identified to be associated with fasting glucose in Caucasian GWAS across multiple ethnicities in the Multi-Ethnic Study of Atherosclerosis (MESA). Non-diabetic MESA participants with fasting glucose measured at the ...

  16. Contrasting results from GWAS and QTL mapping on wing length in great reed warblers.

    Science.gov (United States)

    Hansson, Bengt; Sigeman, Hanna; Stervander, Martin; Tarka, Maja; Ponnikas, Suvi; Strandh, Maria; Westerdahl, Helena; Hasselquist, Dennis

    2018-04-15

    A major goal in evolutionary biology is to understand the genetic basis of adaptive traits. In migratory birds, wing morphology is such a trait. Our previous work on the great reed warbler (Acrocephalus arundinaceus) shows that wing length is highly heritable and under sexually antagonistic selection. Moreover, a quantitative trait locus (QTL) mapping analysis detected a pronounced QTL for wing length on chromosome 2, suggesting that wing morphology is partly controlled by genes with large effects. Here, we re-evaluate the genetic basis of wing length in great reed warblers using a genomewide association study (GWAS) approach based on restriction site-associated DNA sequencing (RADseq) data. We use GWAS models that account for relatedness between individuals and include covariates (sex, age and tarsus length). The resulting association landscape was flat with no peaks on chromosome 2 or elsewhere, which is in line with expectations for polygenic traits. Analysis of the distribution of p-values did not reveal biases, and the inflation factor was low. Effect sizes were however not uniformly distributed on some chromosomes, and the Z chromosome had weaker associations than autosomes. The level of linkage disequilibrium (LD) in the population decayed to background levels within c. 1 kbp. There could be several reasons to why our QTL study and GWAS gave contrasting results including differences in how associations are modelled (cosegregation in pedigree vs. LD associations), how covariates are accounted for in the models, type of marker used (multi- vs. biallelic), difference in power or a combination of these. Our study highlights that the genetic architecture even of highly heritable traits is difficult to characterize in wild populations. © 2018 John Wiley & Sons Ltd.

  17. Publisher Correction

    DEFF Research Database (Denmark)

    Bonàs-Guarch, Sílvia; Guindo-Martínez, Marta; Miguel-Escalada, Irene

    2018-01-01

    In the originally published version of this Article, the affiliation details for Santi González, Jian'an Luan and Claudia Langenberg were inadvertently omitted. Santi González should have been affiliated with 'Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computatio......In the originally published version of this Article, the affiliation details for Santi González, Jian'an Luan and Claudia Langenberg were inadvertently omitted. Santi González should have been affiliated with 'Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program...

  18. Publisher Correction

    DEFF Research Database (Denmark)

    Stokholm, Jakob; Blaser, Martin J.; Thorsen, Jonathan

    2018-01-01

    The originally published version of this Article contained an incorrect version of Figure 3 that was introduced following peer review and inadvertently not corrected during the production process. Both versions contain the same set of abundance data, but the incorrect version has the children...

  19. Publisher Correction

    DEFF Research Database (Denmark)

    Turcot, Valérie; Lu, Yingchang; Highland, Heather M

    2018-01-01

    In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and E...

  20. Dear Publisher.

    Science.gov (United States)

    Chelton, Mary K.

    1992-01-01

    Addresses issues that concern the relationship between publishers and librarians, including differences between libraries and bookstores; necessary information for advertisements; out-of-stock designations and their effect on budgets; the role of distributors and vendors; direct mail for book promotions; unsolicited review copies; communications…

  1. Electronic Publishing.

    Science.gov (United States)

    Lancaster, F. W.

    1989-01-01

    Describes various stages involved in the applications of electronic media to the publishing industry. Highlights include computer typesetting, or photocomposition; machine-readable databases; the distribution of publications in electronic form; computer conferencing and electronic mail; collaborative authorship; hypertext; hypermedia publications;…

  2. Measurement errors in polymerase chain reaction are a confounding factor for a correct interpretation of 5-HTTLPR polymorphism effects on lifelong premature ejaculation: a critical analysis of a previously published meta-analysis of six studies.

    Science.gov (United States)

    Janssen, Paddy K C; Olivier, Berend; Zwinderman, Aeilko H; Waldinger, Marcel D

    2014-01-01

    To analyze a recently published meta-analysis of six studies on 5-HTTLPR polymorphism and lifelong premature ejaculation (PE). Calculation of fraction observed and expected genotype frequencies and Hardy Weinberg equilibrium (HWE) of cases and controls. LL,SL and SS genotype frequencies of patients were subtracted from genotype frequencies of an ideal population (LL25%, SL50%, SS25%, p = 1 for HWE). Analysis of PCRs of six studies and re-analysis of the analysis and Odds ratios (ORs) reported in the recently published meta-analysis. Three studies deviated from HWE in patients and one study deviated from HWE in controls. In three studies in-HWE the mean deviation of genotype frequencies from a theoretical population not-deviating from HWE was small: LL(1.7%), SL(-2.3%), SS(0.6%). In three studies not-in-HWE the mean deviation of genotype frequencies was high: LL(-3.3%), SL(-18.5%) and SS(21.8%) with very low percentage SL genotype concurrent with very high percentage SS genotype. The most serious PCR deviations were reported in the three not-in-HWE studies. The three in-HWE studies had normal OR. In contrast, the three not-in-HWE studies had a low OR. In three studies not-in-HWE and with very low OR, inadequate PCR analysis and/or inadequate interpretation of its gel electrophoresis resulted in very low SL and a resulting shift to very high SS genotype frequency outcome. Consequently, PCRs of these three studies are not reliable. Failure to note the inadequacy of PCR tests makes such PCRs a confounding factor in clinical interpretation of genetic studies. Currently, a meta-analysis can only be performed on three studies-in-HWE. However, based on the three studies-in-HWE with OR of about 1 there is not any indication that in men with lifelong PE the frequency of LL,SL and SS genotype deviates from the general male population and/or that the SL or SS genotype is in any way associated with lifelong PE.

  3. Measurement errors in polymerase chain reaction are a confounding factor for a correct interpretation of 5-HTTLPR polymorphism effects on lifelong premature ejaculation: a critical analysis of a previously published meta-analysis of six studies.

    Directory of Open Access Journals (Sweden)

    Paddy K C Janssen

    Full Text Available OBJECTIVE: To analyze a recently published meta-analysis of six studies on 5-HTTLPR polymorphism and lifelong premature ejaculation (PE. METHODS: Calculation of fraction observed and expected genotype frequencies and Hardy Weinberg equilibrium (HWE of cases and controls. LL,SL and SS genotype frequencies of patients were subtracted from genotype frequencies of an ideal population (LL25%, SL50%, SS25%, p = 1 for HWE. Analysis of PCRs of six studies and re-analysis of the analysis and Odds ratios (ORs reported in the recently published meta-analysis. RESULTS: Three studies deviated from HWE in patients and one study deviated from HWE in controls. In three studies in-HWE the mean deviation of genotype frequencies from a theoretical population not-deviating from HWE was small: LL(1.7%, SL(-2.3%, SS(0.6%. In three studies not-in-HWE the mean deviation of genotype frequencies was high: LL(-3.3%, SL(-18.5% and SS(21.8% with very low percentage SL genotype concurrent with very high percentage SS genotype. The most serious PCR deviations were reported in the three not-in-HWE studies. The three in-HWE studies had normal OR. In contrast, the three not-in-HWE studies had a low OR. CONCLUSIONS: In three studies not-in-HWE and with very low OR, inadequate PCR analysis and/or inadequate interpretation of its gel electrophoresis resulted in very low SL and a resulting shift to very high SS genotype frequency outcome. Consequently, PCRs of these three studies are not reliable. Failure to note the inadequacy of PCR tests makes such PCRs a confounding factor in clinical interpretation of genetic studies. Currently, a meta-analysis can only be performed on three studies-in-HWE. However, based on the three studies-in-HWE with OR of about 1 there is not any indication that in men with lifelong PE the frequency of LL,SL and SS genotype deviates from the general male population and/or that the SL or SS genotype is in any way associated with lifelong PE.

  4. Accuracy of CNV Detection from GWAS Data.

    Directory of Open Access Journals (Sweden)

    Dandan Zhang

    2011-01-01

    Full Text Available Several computer programs are available for detecting copy number variants (CNVs using genome-wide SNP arrays. We evaluated the performance of four CNV detection software suites--Birdsuite, Partek, HelixTree, and PennCNV-Affy--in the identification of both rare and common CNVs. Each program's performance was assessed in two ways. The first was its recovery rate, i.e., its ability to call 893 CNVs previously identified in eight HapMap samples by paired-end sequencing of whole-genome fosmid clones, and 51,440 CNVs identified by array Comparative Genome Hybridization (aCGH followed by validation procedures, in 90 HapMap CEU samples. The second evaluation was program performance calling rare and common CNVs in the Bipolar Genome Study (BiGS data set (1001 bipolar cases and 1033 controls, all of European ancestry as measured by the Affymetrix SNP 6.0 array. Accuracy in calling rare CNVs was assessed by positive predictive value, based on the proportion of rare CNVs validated by quantitative real-time PCR (qPCR, while accuracy in calling common CNVs was assessed by false positive/false negative rates based on qPCR validation results from a subset of common CNVs. Birdsuite recovered the highest percentages of known HapMap CNVs containing >20 markers in two reference CNV datasets. The recovery rate increased with decreased CNV frequency. In the tested rare CNV data, Birdsuite and Partek had higher positive predictive values than the other software suites. In a test of three common CNVs in the BiGS dataset, Birdsuite's call was 98.8% consistent with qPCR quantification in one CNV region, but the other two regions showed an unacceptable degree of accuracy. We found relatively poor consistency between the two "gold standards," the sequence data of Kidd et al., and aCGH data of Conrad et al. Algorithms for calling CNVs especially common ones need substantial improvement, and a "gold standard" for detection of CNVs remains to be established.

  5. A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics.

    Science.gov (United States)

    Lu, Qiongshi; Li, Boyang; Ou, Derek; Erlendsdottir, Margret; Powles, Ryan L; Jiang, Tony; Hu, Yiming; Chang, David; Jin, Chentian; Dai, Wei; He, Qidu; Liu, Zefeng; Mukherjee, Shubhabrata; Crane, Paul K; Zhao, Hongyu

    2017-12-07

    Despite the success of large-scale genome-wide association studies (GWASs) on complex traits, our understanding of their genetic architecture is far from complete. Jointly modeling multiple traits' genetic profiles has provided insights into the shared genetic basis of many complex traits. However, large-scale inference sets a high bar for both statistical power and biological interpretability. Here we introduce a principled framework to estimate annotation-stratified genetic covariance between traits using GWAS summary statistics. Through theoretical and numerical analyses, we demonstrate that our method provides accurate covariance estimates, thereby enabling researchers to dissect both the shared and distinct genetic architecture across traits to better understand their etiologies. Among 50 complex traits with publicly accessible GWAS summary statistics (N total ≈ 4.5 million), we identified more than 170 pairs with statistically significant genetic covariance. In particular, we found strong genetic covariance between late-onset Alzheimer disease (LOAD) and amyotrophic lateral sclerosis (ALS), two major neurodegenerative diseases, in single-nucleotide polymorphisms (SNPs) with high minor allele frequencies and in SNPs located in the predicted functional genome. Joint analysis of LOAD, ALS, and other traits highlights LOAD's correlation with cognitive traits and hints at an autoimmune component for ALS. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  6. Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci

    Science.gov (United States)

    Shen, Changbing; Gao, Jing; Sheng, Yujun; Dou, Jinfa; Zhou, Fusheng; Zheng, Xiaodong; Ko, Randy; Tang, Xianfa; Zhu, Caihong; Yin, Xianyong; Sun, Liangdan; Cui, Yong; Zhang, Xuejun

    2016-01-01

    Vitiligo is an autoimmune disease with a strong genetic component, characterized by areas of depigmented skin resulting from loss of epidermal melanocytes. Genetic factors are known to play key roles in vitiligo through discoveries in association studies and family studies. Previously, vitiligo susceptibility genes were mainly revealed through linkage analysis and candidate gene studies. Recently, our understanding of the genetic basis of vitiligo has been rapidly advancing through genome-wide association study (GWAS). More than 40 robust susceptible loci have been identified and confirmed to be associated with vitiligo by using GWAS. Most of these associated genes participate in important pathways involved in the pathogenesis of vitiligo. Many susceptible loci with unknown functions in the pathogenesis of vitiligo have also been identified, indicating that additional molecular mechanisms may contribute to the risk of developing vitiligo. In this review, we summarize the key loci that are of genome-wide significance, which have been shown to influence vitiligo risk. These genetic loci may help build the foundation for genetic diagnosis and personalize treatment for patients with vitiligo in the future. However, substantial additional studies, including gene-targeted and functional studies, are required to confirm the causality of the genetic variants and their biological relevance in the development of vitiligo. PMID:26870082

  7. Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations

    NARCIS (Netherlands)

    Seow, Wei Jie; Matsuo, Keitaro; Hsiung, Chao Agnes; Shiraishi, Kouya; Song, Minsun; Kim, Hee Nam; Wong, Maria Pik; Hong, Yun-Chul; Hosgood, H. Dean; Wang, Zhaoming; Chang, I-Shou; Wang, Jiu-Cun; Chatterjee, Nilanjan; Tucker, Margaret; Wei, Hu; Mitsudomi, Tetsuya; Zheng, Wei; Kim, Jin Hee; Zhou, Baosen; Caporaso, Neil E; Albanes, Demetrius; Shin, Min-Ho; Chung, Lap Ping; An, She-Juan; Wang, Ping; Zheng, Hong; Yatabe, Yasushi; Zhang, Xu-Chao; Kim, Young Tae; Shu, Xiao Ou; Kim, Young-Chul; Bassig, Bryan A.; Chang, Jiang; Ho, James Chung Man; Ji, Bu Tian; Kubo, Michiaki; Daigo, Yataro; Ito, Hidemi; Momozawa, Yukihide; Ashikawa, Kyota; Kamatani, Yoichiro; Honda, Takayuki; Sakamoto, Hiromi; Kunitoh, Hideo; Tsuta, Koji; Watanabe, Shun-Ichi; Nokihara, Hiroshi; Miyagi, Yohei; Nakayama, Haruhiko; Matsumoto, Shingo; Tsuboi, Masahiro; Goto, Koichi; Yin, Zhihua; Shi, Jianxin; Takahashi, Atsushi; Goto, Akiteru; Minamiya, Yoshihiro; Shimizu, Kimihiro; Tanaka, Kazumi; Wu, Tangchun; Wei, Fusheng; Wong, Jason Y Y; Matsuda, Fumihiko; Su, Jian; Kim, Yeul Hong; Oh, In-Jae; Song, Fengju; Lee, Victor Ho Fun; Su, Wu-Chou; Chen, Yuh-Min; Chang, Gee-Chen; Chen, Kuan-Yu; Huang, Ming-Shyan; Yang, Pan-Chyr; Lin, Hsien-Chih; Xiang, Yong-Bing; Seow, Adeline; Park, Jae Yong; Kweon, Sun-Seog; Chen, Chien-Jen; Li, Haixin; Gao, Yu Tang; Wu, Chen; Qian, Biyun; Lu, Daru; Liu, Jianjun; Jeon, Hyo-Sung; Hsiao, Chin-Fu; Sung, Jae Sook; Tsai, Ying-Huang; Jung, Yoo Jin; Guo, Huan; Hu, Zhibin; Wang, Wen-Chang; Chung, Charles C.; Lawrence, Charles; Burdett, Laurie; Yeager, Meredith; Jacobs, Kevin B.; Hutchinson, Amy; Berndt, Sonja I.; He, Xingzhou; Wu, Wei; Wang, Junwen; Li, Yuqing; Choi, Jin Eun; Park, Kyong Hwa; Sung, Sook Whan; Liu, Li; Kang, Chang Hyun; Hu, Lingmin; Chen, Chung-Hsing; Yang, Tsung-Ying; Xu, Jun; Guan, Peng; Tan, Wen; Wang, Chih-Liang; Sihoe, Alan Dart Loon; Chen, Ying; Choi, Yi Young; Hung, Jen-Yu; Kim, Jun Suk; Yoon, Ho-Il; Cai, Qiuyin; Lin, Chien-Chung; Park, In Kyu; Xu, Ping; Dong, Jing; Kim, Christopher; He, Qincheng; Perng, Reury-Perng; Chen, Chih-Yi; Vermeulen, Roel; Wu, Junjie; Lim, Wei-Yen; Chen, Kun-Chieh; Chan, John K C; Chu, Minjie; Li, Yao-Jen; Li, Jihua; Chen, Hongyan; Yu, Chong-Jen; Jin, Li; Lo, Yen-Li; Chen, Ying-Hsiang; Fraumeni, Joseph F.; Liu, Jie; Yamaji, Taiki; Yang, Yang; Hicks, Belynda; Wyatt, Kathleen; Li, Shengchao A; Dai, Juncheng; Ma, Hongxia; Jin, Guangfu; Song, Bao; Wang, Zhehai; Cheng, Sensen; Li, Xuelian; Ren, Yangwu; Cui, Ping; Iwasaki, Motoki; Shimazu, Taichi; Tsugane, Shoichiro; Zhu, Junjie; Jiang, Gening; Fei, Ke; Wu, Guoping; Chien, Li-Hsin; Chen, Hui-Ling; Su, Yu-Chun; Tsai, Fang-Yu; Chen, Yi-Song; Yu, Jinming; Stevens, Victoria L; Laird-Offringa, Ite A; Marconett, Crystal N; Lin, Dongxin; Chen, Kexin; Wu, Yi-Long; Landi, Maria Teresa; Shen, Hongbing; Rothman, Nathaniel; Kohno, Takashi; Chanock, Stephen J.; Lan, Qing

    2017-01-01

    To evaluate associations by EGFR mutation status for lung adenocarcinoma risk among never-smoking Asian women, we conducted a meta-analysis of 11 loci previously identified in genome-wide association studies (GWAS). Genotyping in an additional 10,780 never-smoking cases and 10,938 never-smoking

  8. Hemoglobin genetics: recent contributions of GWAS and gene editing

    Science.gov (United States)

    Smith, Elenoe C.; Orkin, Stuart H.

    2016-01-01

    The β-hemoglobinopathies are inherited disorders resulting from altered coding potential or expression of the adult β-globin gene. Impaired expression of β-globin reduces adult hemoglobin (α2β2) production, the hallmark of β-thalassemia. A single-base mutation at codon 6 leads to formation of HbS (α2βS2) and sickle cell disease. While the basis of these diseases is known, therapy remains largely supportive. Bone marrow transplantation is the only curative therapy. Patients with elevated levels of fetal hemoglobin (HbF, α2γ2) as adults exhibit reduced symptoms and enhanced survival. The β-globin gene locus is a paradigm of cell- and developmental stage-specific regulation. Although the principal erythroid cell transcription factors are known, mechanisms responsible for silencing of the γ-globin gene were obscure until application of genome-wide association studies (GWAS). Here, we review findings in the field. GWAS identified BCL11A as a candidate negative regulator of γ-globin expression. Subsequent studies have established BCL11A as a quantitative repressor. GWAS-related single-nucleotide polymorphisms lie within an essential erythroid enhancer of the BCL11A gene. Disruption of a discrete region within the enhancer reduces BCL11A expression and induces HbF expression, providing the basis for gene therapy using gene editing tools. A recently identified, second silencing factor, leukemia/lymphoma-related factor/Pokemon, shares features with BCL11A, including interaction with the nucleosome remodeling deacetylase repressive complex. These findings suggest involvement of a common pathway for HbF silencing. In addition, we discuss other factors that may be involved in γ-globin gene silencing and their potential manipulation for therapeutic benefit in treating the β-hemoglobinopathies. PMID:27340226

  9. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

    NARCIS (Netherlands)

    Nakayama, A.; Nakaoka, H.; Yamamoto, K.; Sakiyama, M.; Shaukat, A.; Toyoda, Y.; Okada, Y.; Kamatani, Y.; Nakamura, T.; Takada, T.; Inoue, K.; Yasujima, T.; Yuasa, H.; Shirahama, Y.; Nakashima, H.; Shimizu, S.; Higashino, T.; Kawamura, Y.; Ogata, H.; Kawaguchi, M.; Ohkawa, Y.; Danjoh, I.; Tokumasu, A.; Ooyama, K.; Ito, T.; Kondo, T.; Wakai, K.; Stiburkova, B.; Pavelka, K.; Stamp, L.K.; Dalbeth, N.; Sakurai, Y.; Suzuki, H; Hosoyamada, M.; Fujimori, S.; Yokoo, T.; Hosoya, T.; Inoue, I.; Takahashi, A.; Kubo, M.; Ooyama, H.; Shimizu, T.; Ichida, K.; Shinomiya, N.; Merriman, T.R.; Matsuo, H.; Andres, M; Joosten, L.A.; Janssen, M.C.H.; Jansen, T.L.; Liote, F.; Radstake, T.R.; Riches, P.L.; So, A.; Tauches, A.K.

    2017-01-01

    OBJECTIVE: A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. METHODS: Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were

  10. Extending the use of GWAS data by combining data from different genetic platforms

    NARCIS (Netherlands)

    van Iperen, E. P. A.; Hovingh, G. K.; Asselbergs, F. W.; Zwinderman, A. H.

    2017-01-01

    In the past decade many Genome-wide Association Studies (GWAS) were performed that discovered new associations between single-nucleotide polymorphisms (SNPs) and various phenotypes. Imputation methods are widely used in GWAS. They facilitate the phenotype association with variants that are not

  11. MZ twin pairs or MZ singletons in population family-based GWAS? More power in pairs

    NARCIS (Netherlands)

    Minica, C.C.; Boomsma, D.I.; Vink, J.M.; Dolan, C.V.

    2014-01-01

    Family-based genome-wide association studies (GWAS) involve testing the genetic association of (many) genetic variants with the phenotype of interest, while taking into account the relatedness among family members. Occasionally in family-based GWAS, including monozygotic (MZ) twins, the data from

  12. Transition to electronic publishing

    Science.gov (United States)

    Bowning, Sam

    Previous communications have described some of the many changes that will occur in the next few months as AGU makes the transition to fully electronic publishing. With the advent of the new AGU electronic publishing system, manuscripts will be submitted, edited, reviewed, and published in electronic formats. This piece discusses how the electronic journals will differ from the print journals. Electronic publishing will require some adjustments to the ways we currently think about journals from our perspective of standard print versions. Visiting the Web site of AGU's Geochemistry, Geophysics, Geosystems (G-Cubed) is a great way to get familiar with the look and feel of electronic publishing. However, protocols, especially for citations of articles, are still evolving. Some of the biggest changes for users of AGU publications may be the lack of page numbers, the use of a unique identifier (DOI),and changes in citation style.

  13. Assessment of Five Chilling Tolerance Traits and GWAS Mapping in Rice Using the USDA Mini-Core Collection

    Directory of Open Access Journals (Sweden)

    Michael R. Schläppi

    2017-06-01

    Full Text Available Rice (Oryza sativa L. is often exposed to cool temperatures during spring planting in temperate climates. A better understanding of genetic pathways regulating chilling tolerance will enable breeders to develop varieties with improved tolerance during germination and young seedling stages. To dissect chilling tolerance, five assays were developed; one assay for the germination stage, one assay for the germination and seedling stage, and three for the seedling stage. Based on these assays, five chilling tolerance indices were calculated and assessed using 202 O. sativa accessions from the Rice Mini-Core (RMC collection. Significant differences between RMC accessions made the five indices suitable for genome-wide association study (GWAS based quantitative trait loci (QTL mapping. For young seedling stage indices, japonica and indica subspecies clustered into chilling tolerant and chilling sensitive accessions, respectively, while both subspecies had similar low temperature germinability distributions. Indica subspecies were shown to have chilling acclimation potential. GWAS mapping uncovered 48 QTL at 39 chromosome regions distributed across all 12 rice chromosomes. Interestingly, there was no overlap between the germination and seedling stage QTL. Also, 18 QTL and 32 QTL were in regions discovered in previously reported bi-parental and GWAS based QTL mapping studies, respectively. Two novel low temperature seedling survivability (LTSS–QTL, qLTSS3-4 and qLTSS4-1, were not in a previously reported QTL region. QTL with strong effect alleles identified in this study will be useful for marker assisted breeding efforts to improve chilling tolerance in rice cultivars and enhance gene discovery for chilling tolerance.

  14. A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk

    Science.gov (United States)

    Pooley, Karen A.; Bojesen, Stig E.; Weischer, Maren; Nielsen, Sune F.; Thompson, Deborah; Amin Al Olama, Ali; Michailidou, Kyriaki; Tyrer, Jonathan P.; Benlloch, Sara; Brown, Judith; Audley, Tina; Luben, Robert; Khaw, K-T; Neal, David E.; Hamdy, Freddie C.; Donovan, Jenny L.; Kote-Jarai, Zsofia; Baynes, Caroline; Shah, Mitul; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Dicks, Ed; Yang, Rongxi; Rudolph, Anja; Schildkraut, Joellen; Chang-Claude, Jenny; Burwinkel, Barbara; Chenevix-Trench, Georgia; Pharoah, Paul D. P.; Berchuck, Andrew; Eeles, Rosalind A.; Easton, Douglas F.; Dunning, Alison M.; Nordestgaard, Børge G.

    2013-01-01

    Mean telomere length (TL) in blood cells is heritable and has been reported to be associated with risks of several diseases, including cancer. We conducted a meta-analysis of three GWAS for TL (total n=2240) and selected 1629 variants for replication via the “iCOGS” custom genotyping array. All ∼200 000 iCOGS variants were analysed with TL, and those displaying associations in healthy controls (n = 15 065) were further tested in breast cancer cases (n = 11 024). We found a novel TL association (Ptrend < 4 × 10−10) at 3p14.4 close to PXK and evidence (Ptrend < 7 × 10−7) for TL loci at 6p22.1 (ZNF311) and 20q11.2 (BCL2L1). We additionally confirmed (Ptrend < 5 × 10−14) the previously reported loci at 3q26.2 (TERC), 5p15.3 (TERT) and 10q24.3 (OBFC1) and found supportive evidence (Ptrend < 5 × 10−4) for the published loci at 2p16.2 (ACYP2), 4q32.2 (NAF1) and 20q13.3 (RTEL1). SNPs tagging these loci explain TL differences of up to 731 bp (corresponding to 18% of total TL in healthy individuals), however, they display little direct evidence for association with breast, ovarian or prostate cancer risks. PMID:23900074

  15. A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.

    Science.gov (United States)

    Pooley, Karen A; Bojesen, Stig E; Weischer, Maren; Nielsen, Sune F; Thompson, Deborah; Amin Al Olama, Ali; Michailidou, Kyriaki; Tyrer, Jonathan P; Benlloch, Sara; Brown, Judith; Audley, Tina; Luben, Robert; Khaw, K-T; Neal, David E; Hamdy, Freddie C; Donovan, Jenny L; Kote-Jarai, Zsofia; Baynes, Caroline; Shah, Mitul; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Dicks, Ed; Yang, Rongxi; Rudolph, Anja; Schildkraut, Joellen; Chang-Claude, Jenny; Burwinkel, Barbara; Chenevix-Trench, Georgia; Pharoah, Paul D P; Berchuck, Andrew; Eeles, Rosalind A; Easton, Douglas F; Dunning, Alison M; Nordestgaard, Børge G

    2013-12-15

    Mean telomere length (TL) in blood cells is heritable and has been reported to be associated with risks of several diseases, including cancer. We conducted a meta-analysis of three GWAS for TL (total n=2240) and selected 1629 variants for replication via the "iCOGS" custom genotyping array. All ∼200 000 iCOGS variants were analysed with TL, and those displaying associations in healthy controls (n = 15 065) were further tested in breast cancer cases (n = 11 024). We found a novel TL association (Ptrend < 4 × 10(-10)) at 3p14.4 close to PXK and evidence (Ptrend < 7 × 10(-7)) for TL loci at 6p22.1 (ZNF311) and 20q11.2 (BCL2L1). We additionally confirmed (Ptrend < 5 × 10(-14)) the previously reported loci at 3q26.2 (TERC), 5p15.3 (TERT) and 10q24.3 (OBFC1) and found supportive evidence (Ptrend < 5 × 10(-4)) for the published loci at 2p16.2 (ACYP2), 4q32.2 (NAF1) and 20q13.3 (RTEL1). SNPs tagging these loci explain TL differences of up to 731 bp (corresponding to 18% of total TL in healthy individuals), however, they display little direct evidence for association with breast, ovarian or prostate cancer risks.

  16. Effect of sample stratification on dairy GWAS results

    Directory of Open Access Journals (Sweden)

    Ma Li

    2012-10-01

    Full Text Available Abstract Background Artificial insemination and genetic selection are major factors contributing to population stratification in dairy cattle. In this study, we analyzed the effect of sample stratification and the effect of stratification correction on results of a dairy genome-wide association study (GWAS. Three methods for stratification correction were used: the efficient mixed-model association expedited (EMMAX method accounting for correlation among all individuals, a generalized least squares (GLS method based on half-sib intraclass correlation, and a principal component analysis (PCA approach. Results Historical pedigree data revealed that the 1,654 contemporary cows in the GWAS were all related when traced through approximately 10–15 generations of ancestors. Genome and phenotype stratifications had a striking overlap with the half-sib structure. A large elite half-sib family of cows contributed to the detection of favorable alleles that had low frequencies in the general population and high frequencies in the elite cows and contributed to the detection of X chromosome effects. All three methods for stratification correction reduced the number of significant effects. EMMAX method had the most severe reduction in the number of significant effects, and the PCA method using 20 principal components and GLS had similar significance levels. Removal of the elite cows from the analysis without using stratification correction removed many effects that were also removed by the three methods for stratification correction, indicating that stratification correction could have removed some true effects due to the elite cows. SNP effects with good consensus between different methods and effect size distributions from USDA’s Holstein genomic evaluation included the DGAT1-NIBP region of BTA14 for production traits, a SNP 45kb upstream from PIGY on BTA6 and two SNPs in NIBP on BTA14 for protein percentage. However, most of these consensus effects had

  17. Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses

    LENUS (Irish Health Repository)

    Trompet, Stella

    2011-10-06

    Abstract Background The PHArmacogenetic study of Statins in the Elderly at risk (PHASE) is a genome wide association study in the PROspective Study of Pravastatin in the Elderly at risk for vascular disease (PROSPER) that investigates the genetic variation responsible for the individual variation in drug response to pravastatin. Statins lower LDL-cholesterol in general by 30%, however not in all subjects. Moreover, clinical response is highly variable and adverse effects occur in a minority of patients. In this report we first describe the rationale of the PROSPER\\/PHASE project and second show that the PROSPER\\/PHASE study can be used to study pharmacogenetics in the elderly. Methods The genome wide association study (GWAS) was conducted using the Illumina 660K-Quad beadchips following manufacturer\\'s instructions. After a stringent quality control 557,192 SNPs in 5,244 subjects were available for analysis. To maximize the availability of genetic data and coverage of the genome, imputation up to 2.5 million autosomal CEPH HapMap SNPs was performed with MACH imputation software. The GWAS for LDL-cholesterol is assessed with an additive linear regression model in PROBABEL software, adjusted for age, sex, and country of origin to account for population stratification. Results Forty-two SNPs reached the GWAS significant threshold of p = 5.0e-08 in 5 genomic loci (APOE\\/APOC1; LDLR; FADS2\\/FEN1; HMGCR; PSRC1\\/CELSR5). The top SNP (rs445925, chromosome 19) with a p-value of p = 2.8e-30 is located within the APOC1 gene and near the APOE gene. The second top SNP (rs6511720, chromosome 19) with a p-value of p = 5.22e-15 is located within the LDLR gene. All 5 genomic loci were previously associated with LDL-cholesterol levels, no novel loci were identified. Replication in WOSCOPS and CARE confirmed our results. Conclusion With the GWAS in the PROSPER\\/PHASE study we confirm the previously found genetic associations with LDL-cholesterol levels. With this proof

  18. Statistical methods to detect novel genetic variants using publicly available GWAS summary data.

    Science.gov (United States)

    Guo, Bin; Wu, Baolin

    2018-03-01

    We propose statistical methods to detect novel genetic variants using only genome-wide association studies (GWAS) summary data without access to raw genotype and phenotype data. With more and more summary data being posted for public access in the post GWAS era, the proposed methods are practically very useful to identify additional interesting genetic variants and shed lights on the underlying disease mechanism. We illustrate the utility of our proposed methods with application to GWAS meta-analysis results of fasting glucose from the international MAGIC consortium. We found several novel genome-wide significant loci that are worth further study. Copyright © 2018 Elsevier Ltd. All rights reserved.

  19. Genetic dissection of photoperiod response based on GWAS of pre-anthesis phase duration in spring barley.

    Directory of Open Access Journals (Sweden)

    Ahmad M Alqudah

    Full Text Available Heading time is a complex trait, and natural variation in photoperiod responses is a major factor controlling time to heading, adaptation and grain yield. In barley, previous heading time studies have been mainly conducted under field conditions to measure total days to heading. We followed a novel approach and studied the natural variation of time to heading in a world-wide spring barley collection (218 accessions, comprising of 95 photoperiod-sensitive (Ppd-H1 and 123 accessions with reduced photoperiod sensitivity (ppd-H1 to long-day (LD through dissecting pre-anthesis development into four major stages and sub-phases. The study was conducted under greenhouse (GH conditions (LD; 16/8 h; ∼20/∼16°C day/night. Genotyping was performed using a genome-wide high density 9K single nucleotide polymorphisms (SNPs chip which assayed 7842 SNPs. We used the barley physical map to identify candidate genes underlying genome-wide association scans (GWAS. GWAS for pre-anthesis stages/sub-phases in each photoperiod group provided great power for partitioning genetic effects on floral initiation and heading time. In addition to major genes known to regulate heading time under field conditions, several novel QTL with medium to high effects, including new QTL having major effects on developmental stages/sub-phases were found to be associated in this study. For example, highly associated SNPs tagged the physical regions around HvCO1 (barley CONSTANS1 and BFL (BARLEY FLORICAULA/LEAFY genes. Based upon our GWAS analysis, we propose a new genetic network model for each photoperiod group, which includes several newly identified genes, such as several HvCO-like genes, belonging to different heading time pathways in barley.

  20. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

    OpenAIRE

    Nakayama, Akiyoshi; Nakaoka, Hirofumi; Yamamoto, Ken; Sakiyama, Masayuki; Shaukat, Amara; Toyoda, Yu; Okada, Yukinori; Kamatani, Yoichiro; Nakamura, Takahiro; Takada, Tappei; Inoue, Katsuhisa; Yasujima, Tomoya; Yuasa, Hiroaki; Shirahama, Yuko; Nakashima, Hiroshi

    2016-01-01

    Objective A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. Methods Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zeala...

  1. qqman: an R package for visualizing GWAS results using Q-Q and manhattan plots

    OpenAIRE

    Turner, Stephen

    2014-01-01

    Summary: Genome-wide association studies (GWAS) have identified thousands of human trait-associated single nucleotide polymorphisms. Here, I describe a freely available R package for visualizing GWAS results using Q-Q and manhattan plots. The qqman package enables the flexible creation of manhattan plots, both genome-wide and for single chromosomes, with optional highlighting of SNPs of interest. Availability: qqman is released under the GNU General Public License, and is freely available on ...

  2. Evaluation of European Schizophrenia GWAS Loci in Asian Populations via Comprehensive Meta-Analyses.

    Science.gov (United States)

    Xiao, Xiao; Luo, Xiong-Jian; Chang, Hong; Liu, Zichao; Li, Ming

    2017-08-01

    Schizophrenia is a severe and highly heritable neuropsychiatric disorder. Recent genetic analyses including genome-wide association studies (GWAS) have implicated multiple genome-wide significant variants for schizophrenia among European populations. However, many of these risk variants were not largely validated in other populations of different ancestry such as Asians. To validate whether these European GWAS significant loci are associated with schizophrenia in Asian populations, we conducted a systematic literature search and meta-analyses on 19 single nucleotide polymorphisms (SNPs) in Asian populations by combining all available case-control and family-based samples, including up to 30,000 individuals. We employed classical fixed (or random) effects inverse variance weighted methods to calculate summary odds ratios (ORs) and 95 % confidence intervals (CIs). Among the 19 GWAS loci, we replicated the risk associations of nine markers (e.g., SNPs at VRK2, ITIH3/4, NDST3, NOTCH4) surpassing significance level (two-tailed P Asian replication samples and initial European GWAS findings, and the successful replications of these GWAS loci in a different ethnic group provide stronger evidence for their clinical associations with schizophrenia. Further studies, focusing on the molecular mechanisms of these GWAS significant loci, will become increasingly important for understanding of the pathogenesis to schizophrenia.

  3. GenToS: Use of Orthologous Gene Information to Prioritize Signals from Human GWAS.

    Directory of Open Access Journals (Sweden)

    Anselm S Hoppmann

    Full Text Available Genome-wide association studies (GWAS evaluate associations between genetic variants and a trait or disease of interest free of prior biological hypotheses. GWAS require stringent correction for multiple testing, with genome-wide significance typically defined as association p-value <5*10-8. This study presents a new tool that uses external information about genes to prioritize SNP associations (GenToS. For a given list of candidate genes, GenToS calculates an appropriate statistical significance threshold and then searches for trait-associated variants in summary statistics from human GWAS. It thereby allows for identifying trait-associated genetic variants that do not meet genome-wide significance. The program additionally tests for enrichment of significant candidate gene associations in the human GWAS data compared to the number expected by chance. As proof of principle, this report used external information from a comprehensive resource of genetically manipulated and systematically phenotyped mice. Based on selected murine phenotypes for which human GWAS data for corresponding traits were publicly available, several candidate gene input lists were derived. Using GenToS for the investigation of candidate genes underlying murine skeletal phenotypes in data from a large human discovery GWAS meta-analysis of bone mineral density resulted in the identification of significantly associated variants in 29 genes. Index variants in 28 of these loci were subsequently replicated in an independent GWAS replication step, highlighting that they are true positive associations. One signal, COL11A1, has not been discovered through GWAS so far and represents a novel human candidate gene for altered bone mineral density. The number of observed genes that contained significant SNP associations in human GWAS based on murine candidate gene input lists was much greater than the number expected by chance across several complex human traits (enrichment p-value as

  4. Heritability and GWAS Analyses of Acne in Australian Adolescent Twins.

    Science.gov (United States)

    Mina-Vargas, Angela; Colodro-Conde, Lucía; Grasby, Katrina; Zhu, Gu; Gordon, Scott; Medland, Sarah E; Martin, Nicholas G

    2017-12-01

    Acne vulgaris is a skin disease with a multifactorial and complex pathology. While several twin studies have estimated that acne has a heritability of up to 80%, the genomic elements responsible for the origin and pathology of acne are still undiscovered. Here we performed a twin-based structural equation model, using available data on acne severity for an Australian sample of 4,491 twins and their siblings aged from 10 to 24. This study extends by a factor of 3 an earlier analysis of the genetic factors of acne. Acne severity was rated by nurses on a 4-point scale (1 = absent to 4 = severe) on up to three body sites (face, back, chest) and on up to three occasions (age 12, 14, and 16). The phenotype that we analyzed was the most severe rating at any site or age. The polychoric correlation for monozygotic twins was higher (r MZ = 0.86, 95% CI [0.81, 0.90]) than for dizygotic twins (r DZ = 0.42, 95% CI [0.35, 0.47]). A model that includes additive genetic effects and unique environmental effects was the most parsimonious model to explain the genetic variance of acne severity, and the estimated heritability was 0.85 (95% CI [0.82, 0.87]). We then conducted a genome-wide analysis including an additional 271 siblings - for a total of 4,762 individuals. A genome-wide association study (GWAS) scan did not detect loci associated with the severity of acne at the threshold of 5E-08 but suggestive association was found for three SNPs: rs10515088 locus 5q13.1 (p = 3.9E-07), rs12738078 locus 1p35.5 (p = 6.7E-07), and rs117943429 locus 18q21.2 (p = 9.1E-07). The 5q13.1 locus is close to PIK3R1, a gene that has a potential regulatory effect on sebocyte differentiation.

  5. Identification of loci governing eight agronomic traits using a GBS-GWAS approach and validation by QTL mapping in soya bean.

    Science.gov (United States)

    Sonah, Humira; O'Donoughue, Louise; Cober, Elroy; Rajcan, Istvan; Belzile, François

    2015-02-01

    Soya bean is a major source of edible oil and protein for human consumption as well as animal feed. Understanding the genetic basis of different traits in soya bean will provide important insights for improving breeding strategies for this crop. A genome-wide association study (GWAS) was conducted to accelerate molecular breeding for the improvement of agronomic traits in soya bean. A genotyping-by-sequencing (GBS) approach was used to provide dense genome-wide marker coverage (>47,000 SNPs) for a panel of 304 short-season soya bean lines. A subset of 139 lines, representative of the diversity among these, was characterized phenotypically for eight traits under six environments (3 sites × 2 years). Marker coverage proved sufficient to ensure highly significant associations between the genes known to control simple traits (flower, hilum and pubescence colour) and flanking SNPs. Between one and eight genomic loci associated with more complex traits (maturity, plant height, seed weight, seed oil and protein) were also identified. Importantly, most of these GWAS loci were located within genomic regions identified by previously reported quantitative trait locus (QTL) for these traits. In some cases, the reported QTLs were also successfully validated by additional QTL mapping in a biparental population. This study demonstrates that integrating GBS and GWAS can be used as a powerful complementary approach to classical biparental mapping for dissecting complex traits in soya bean. © 2014 Society for Experimental Biology, Association of Applied Biologists and John Wiley & Sons Ltd.

  6. In-silico analysis of inflammatory bowel disease (IBD GWAS loci to novel connections.

    Directory of Open Access Journals (Sweden)

    Md Mesbah-Uddin

    Full Text Available Genome-wide association studies (GWASs for many complex diseases, including inflammatory bowel disease (IBD, produced hundreds of disease-associated loci-the majority of which are noncoding. The number of GWAS loci is increasing very rapidly, but the process of translating single nucleotide polymorphisms (SNPs from these loci to genomic medicine is lagging. In this study, we investigated 4,734 variants from 152 IBD associated GWAS loci (IBD associated 152 lead noncoding SNPs identified from pooled GWAS results + 4,582 variants in strong linkage-disequilibrium (LD (r2 ≥0.8 for EUR population of 1K Genomes Project using four publicly available bioinformatics tools, e.g. dbPSHP, CADD, GWAVA, and RegulomeDB, to annotate and prioritize putative regulatory variants. Of the 152 lead noncoding SNPs, around 11% are under strong negative selection (GERP++ RS ≥2; and ~30% are under balancing selection (Tajima's D score >2 in CEU population (1K Genomes Project--though these regions are positively selected (GERP++ RS <0 in mammalian evolution. The analysis of 4,734 variants using three integrative annotation tools produced 929 putative functional SNPs, of which 18 SNPs (from 15 GWAS loci are in concordance with all three classifiers. These prioritized noncoding SNPs may contribute to IBD pathogenesis by dysregulating the expression of nearby genes. This study showed the usefulness of integrative annotation for prioritizing fewer functional variants from a large number of GWAS markers.

  7. Estimating Effect Sizes and Expected Replication Probabilities from GWAS Summary Statistics

    DEFF Research Database (Denmark)

    Holland, Dominic; Wang, Yunpeng; Thompson, Wesley K

    2016-01-01

    Genome-wide Association Studies (GWAS) result in millions of summary statistics ("z-scores") for single nucleotide polymorphism (SNP) associations with phenotypes. These rich datasets afford deep insights into the nature and extent of genetic contributions to complex phenotypes such as psychiatric......-scores, as such knowledge would enhance causal SNP and gene discovery, help elucidate mechanistic pathways, and inform future study design. Here we present a parsimonious methodology for modeling effect sizes and replication probabilities, relying only on summary statistics from GWAS substudies, and a scheme allowing...... for estimating the degree of polygenicity of the phenotype and predicting the proportion of chip heritability explainable by genome-wide significant SNPs in future studies with larger sample sizes. We apply the model to recent GWAS of schizophrenia (N = 82,315) and putamen volume (N = 12,596), with approximately...

  8. Publishing and Revising Content

    Science.gov (United States)

    Editors and Webmasters can publish content without going through a workflow. Publishing times and dates can be set, and multiple pages can be published in bulk. Making an edit to published content created a revision.

  9. Publishing with XML structure, enter, publish

    CERN Document Server

    Prost, Bernard

    2015-01-01

    XML is now at the heart of book publishing techniques: it provides the industry with a robust, flexible format which is relatively easy to manipulate. Above all, it preserves the future: the XML text becomes a genuine tactical asset enabling publishers to respond quickly to market demands. When new publishing media appear, it will be possible to very quickly make your editorial content available at a lower cost. On the downside, XML can become a bottomless pit for publishers attracted by its possibilities. There is a strong temptation to switch to audiovisual production and to add video and a

  10. SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS.

    Science.gov (United States)

    Merelli, Ivan; Calabria, Andrea; Cozzi, Paolo; Viti, Federica; Mosca, Ettore; Milanesi, Luciano

    2013-01-01

    The capability of correlating specific genotypes with human diseases is a complex issue in spite of all advantages arisen from high-throughput technologies, such as Genome Wide Association Studies (GWAS). New tools for genetic variants interpretation and for Single Nucleotide Polymorphisms (SNPs) prioritization are actually needed. Given a list of the most relevant SNPs statistically associated to a specific pathology as result of a genotype study, a critical issue is the identification of genes that are effectively related to the disease by re-scoring the importance of the identified genetic variations. Vice versa, given a list of genes, it can be of great importance to predict which SNPs can be involved in the onset of a particular disease, in order to focus the research on their effects. We propose a new bioinformatics approach to support biological data mining in the analysis and interpretation of SNPs associated to pathologies. This system can be employed to design custom genotyping chips for disease-oriented studies and to re-score GWAS results. The proposed method relies (1) on the data integration of public resources using a gene-centric database design, (2) on the evaluation of a set of static biomolecular annotations, defined as features, and (3) on the SNP scoring function, which computes SNP scores using parameters and weights set by users. We employed a machine learning classifier to set default feature weights and an ontological annotation layer to enable the enrichment of the input gene set. We implemented our method as a web tool called SNPranker 2.0 (http://www.itb.cnr.it/snpranker), improving our first published release of this system. A user-friendly interface allows the input of a list of genes, SNPs or a biological process, and to customize the features set with relative weights. As result, SNPranker 2.0 returns a list of SNPs, localized within input and ontologically enriched genes, combined with their prioritization scores. Different

  11. GWAS-based machine learning approach to predict duloxetine response in major depressive disorder.

    Science.gov (United States)

    Maciukiewicz, Malgorzata; Marshe, Victoria S; Hauschild, Anne-Christin; Foster, Jane A; Rotzinger, Susan; Kennedy, James L; Kennedy, Sidney H; Müller, Daniel J; Geraci, Joseph

    2018-04-01

    Major depressive disorder (MDD) is one of the most prevalent psychiatric disorders and is commonly treated with antidepressant drugs. However, large variability is observed in terms of response to antidepressants. Machine learning (ML) models may be useful to predict treatment outcomes. A sample of 186 MDD patients received treatment with duloxetine for up to 8 weeks were categorized as "responders" based on a MADRS change >50% from baseline; or "remitters" based on a MADRS score ≤10 at end point. The initial dataset (N = 186) was randomly divided into training and test sets in a nested 5-fold cross-validation, where 80% was used as a training set and 20% made up five independent test sets. We performed genome-wide logistic regression to identify potentially significant variants related to duloxetine response/remission and extracted the most promising predictors using LASSO regression. Subsequently, classification-regression trees (CRT) and support vector machines (SVM) were applied to construct models, using ten-fold cross-validation. With regards to response, none of the pairs performed significantly better than chance (accuracy p > .1). For remission, SVM achieved moderate performance with an accuracy = 0.52, a sensitivity = 0.58, and a specificity = 0.46, and 0.51 for all coefficients for CRT. The best performing SVM fold was characterized by an accuracy = 0.66 (p = .071), sensitivity = 0.70 and a sensitivity = 0.61. In this study, the potential of using GWAS data to predict duloxetine outcomes was examined using ML models. The models were characterized by a promising sensitivity, but specificity remained moderate at best. The inclusion of additional non-genetic variables to create integrated models may improve prediction. Copyright © 2017. Published by Elsevier Ltd.

  12. An Electronic Publishing Model for Academic Publishers.

    Science.gov (United States)

    Gold, Jon D.

    1994-01-01

    Describes an electronic publishing model based on Standard Generalized Markup Language (SGML) and considers its use by an academic publisher. Highlights include how SGML is used to produce an electronic book, hypertext, methods of delivery, intellectual property rights, and future possibilities. Sample documents are included. (two references) (LRW)

  13. Methods to improve genomic prediction and GWAS using combined Holstein populations

    DEFF Research Database (Denmark)

    Li, Xiujin

    The thesis focuses on methods to improve GWAS and genomic prediction using combined Holstein populations and investigations G by E interaction. The conclusions are: 1) Prediction reliabilities for Brazilian Holsteins can be increased by adding Nordic and Frensh genotyped bulls and a large G by E...... interaction exists between populations. 2) Combining data from Chinese and Danish Holstein populations increases the power of GWAS and detects new QTL regions for milk fatty acid traits. 3) The novel multi-trait Bayesian model efficiently estimates region-specific genomic variances, covariances...

  14. Gene-Based Analysis of Regionally Enriched Cortical Genes in GWAS Data Sets of Cognitive Traits and Psychiatric Disorders

    DEFF Research Database (Denmark)

    Ersland, Kari M; Christoforou, Andrea; Stansberg, Christine

    2012-01-01

    the regionally enriched cortical genes to mine a genome-wide association study (GWAS) of the Norwegian Cognitive NeuroGenetics (NCNG) sample of healthy adults for association to nine psychometric tests measures. In addition, we explored GWAS data sets for the serious psychiatric disorders schizophrenia (SCZ) (n...

  15. Getting Your Textbook Published.

    Science.gov (United States)

    Irwin, Armond J.

    1982-01-01

    Points to remember in getting a textbook published are examined: book idea, publisher's sales representatives, letter of inquiry, qualifications for authorship, author information form, idea proposal, reviews, marketing and sales, publishing agreement, author royalties, and copyright assignment. (CT)

  16. Integrated GWAS and Pathway profiling for feed efficiency traits in pigs leads to novel genes and their molecular pathways

    DEFF Research Database (Denmark)

    Do, Duy Ngoc; Ostersen, Tage; Strathe, Anders Bjerring

    2013-01-01

    Genome wide association studies (GWAS) are being extensively used in revealing genetic architecture of complex traits. However, GWAS offer limited understanding of the biological role of significant single nucleotide polymorphisms (SNPs) affecting complex traits. Pathway analysis using GWAS results...... is an important step where we firstly detect genes located near GWAS-detected SNPs and subsequently we detect enrichment of these genes in various biological processes and pathways. The objective of this study was to apply these steps to identify relevant pathways involved in residual feed intake (RFI) in pigs....... Residual feed intake is a feed efficiency measure and is highly economically important in animal production. In our study, a total of 596 Yorkshire boars had phenotypic and genotypic records. After quality control, 37,915 SNPs were available for GWAS which was implemented in the DMU software package...

  17. Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics

    NARCIS (Netherlands)

    Feng, Yen Chen Anne; Cho, Kelly; Lindstrom, Sara; Kraft, Peter; Cormack, Jean; Blalock, Kendra; Campbell, Peter T.; Casey, Graham; Conti, David V.; Edlund, Christopher K.; Figueiredo, Jane; James Gauderman, W.; Gong, Jian; Green, Roger C.; Gruber, Stephen B.; Harju, John F.; Harrison, Tabitha A.; Jacobs, Eric J; Jenkins, Mark A.; Jiao, Shuo; Li, Li; Lin, Yi; Manion, Frank J.; Moreno, Victor; Mukherjee, Bhramar; Peters, Ulrike; Raskin, Leon; Schumacher, Fredrick R.; Seminara, Daniela; Severi, Gianluca; Stenzel, Stephanie L.; Thomas, Duncan C.; Hopper, John L.; Southey, Melissa C.; Makalic, Enes; Schmidt, Daniel F.; Fletcher, Olivia; Peto, Julian; Gibson, Lorna; Dos-Santos-Silva, Isabel; Hunter, David J.; Lindström, Sara; Kraft, Peter; Ahsan, Habib; Whittemore, Alice S.; Waisfisz, Quinten; Meijers-Heijboer, Hanne; Adank, Muriel A.; van der Luijt, Rob B.; Uitterlinden, Andre G; Hofman, Albert; Meindl, Alfons; Schmutzler, Rita K.; Müller-Myhsok, Bertram; Lichtner, Peter; Nevanlinna, Heli; Muranen, Taru A.; Aittomäki, Kristiina; Blomqvist, Carl; Chang-Claude, Jenny; Hein, Rebecca; Dahmen, Norbert; Beckman, Lars; Crisponi, Laura; Hall, Per; Czene, Kamila; Irwanto, Astrid; Liu, Jianjun; Easton, Douglas F.; Turnbull, Clare A.; Rahman, Nazneen; Kote-Jarai, Zsofia; Muir, Kenneth; Giles, Graham G.; Severi, Gianluca; Neal, David E.; Donovan, Jenny L.; Hamdy, Freddie C.; Wiklund, Fredrik; Gronberg, Henrik; Haiman, Christopher; Schumacher, Fred; Travis, Ruth C.; Riboli, Elio; Kraft, Peter; Hunter, David J.; Gapstur, Susan M.; Berndt, Sonja I.; Chanock, Stephen J.; Han, Younghun; Su, Li; Wei, Yongyue; Hung, Rayjean J.; Brhane, Yonathan; McLaughlin, John; Brennan, Paul; McKay, James D.; Bickeböller, Heike; Rosenberger, Albert; Houlston, Richard S.; Caporaso, Neil E; Landi, Maria Teresa; Heinrich, Joachim; Risch, Angela; Wu, Xifeng; Ye, Yuanqing; Christiani, David C.; Amos, Christopher I; Liang, Liming; Driver, Jane A.; IGAP Consortium, Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE)

    2017-01-01

    Growing evidence from both epidemiology and basic science suggest an inverse association between Alzheimer’s disease (AD) and cancer. We examined the genetic relationship between AD and various cancer types using GWAS summary statistics from the IGAP and GAME-ON consortia. Sample size ranged from

  18. Functional validation of GWAS gene candidates for abnormal liver function during zebrafish liver development

    Directory of Open Access Journals (Sweden)

    Leah Y. Liu

    2013-09-01

    Genome-wide association studies (GWAS have revealed numerous associations between many phenotypes and gene candidates. Frequently, however, further elucidation of gene function has not been achieved. A recent GWAS identified 69 candidate genes associated with elevated liver enzyme concentrations, which are clinical markers of liver disease. To investigate the role of these genes in liver homeostasis, we narrowed down this list to 12 genes based on zebrafish orthology, zebrafish liver expression and disease correlation. To assess the function of gene candidates during liver development, we assayed hepatic progenitors at 48 hours post fertilization (hpf and hepatocytes at 72 hpf using in situ hybridization following morpholino knockdown in zebrafish embryos. Knockdown of three genes (pnpla3, pklr and mapk10 decreased expression of hepatic progenitor cells, whereas knockdown of eight genes (pnpla3, cpn1, trib1, fads2, slc2a2, pklr, mapk10 and samm50 decreased cell-specific hepatocyte expression. We then induced liver injury in zebrafish embryos using acetaminophen exposure and observed changes in liver toxicity incidence in morphants. Prioritization of GWAS candidates and morpholino knockdown expedites the study of newly identified genes impacting liver development and represents a feasible method for initial assessment of candidate genes to instruct further mechanistic analyses. Our analysis can be extended to GWAS for additional disease-associated phenotypes.

  19. LocusTrack: Integrated visualization of GWAS results and genomic annotation.

    Science.gov (United States)

    Cuellar-Partida, Gabriel; Renteria, Miguel E; MacGregor, Stuart

    2015-01-01

    Genome-wide association studies (GWAS) are an important tool for the mapping of complex traits and diseases. Visual inspection of genomic annotations may be used to generate insights into the biological mechanisms underlying GWAS-identified loci. We developed LocusTrack, a web-based application that annotates and creates plots of regional GWAS results and incorporates user-specified tracks that display annotations such as linkage disequilibrium (LD), phylogenetic conservation, chromatin state, and other genomic and regulatory elements. Currently, LocusTrack can integrate annotation tracks from the UCSC genome-browser as well as from any tracks provided by the user. LocusTrack is an easy-to-use application and can be accessed at the following URL: http://gump.qimr.edu.au/general/gabrieC/LocusTrack/. Users can upload and manage GWAS results and select from and/or provide annotation tracks using simple and intuitive menus. LocusTrack scripts and associated data can be downloaded from the website and run locally.

  20. GWAS for executive function and processing speed suggests involvement of the CADM2 gene

    NARCIS (Netherlands)

    C.A. Ibrahim-Verbaas (Carla); J. Bressler; S. Debette (Stéphanie); M. Schuur (Maaike); A.V. Smith; J.C. Bis (Joshua); G. Davies (Gail); S. Trompet (Stella); J.A. Smith; A. Björnsson (Asgeir); L.B. Chibnik (Lori); Y. Liu; V. Vitart (Veronique); M. Kirin (Mirna); K. Petrovic (Katja); O. Polasek (Ozren); L. Zgaga (Lina); C. Fawns-Ritchie; P. Hoffmann (Per); J. Karjalainen (Juha); J. Lahti; D.J. Llewellyn; C.O. Schmidt (Carsten O.); R. Mather; V. Chouraki (Vincent); Q. Sun; S. Resnick (Susan); L.M. Rose (Lynda M.); C. Oldmeadow (Christopher); M. Stewart; B.H. Smith; V. Gudnason (Vilmundur); Q. Yang (Qiong); S.S. Mirza (Saira); J.W. Jukema; P.L. DeJager (Philip L.); T.B. Harris (Tamara); D.C. Liewald (David C.); N. Amin (Najaf); L.H. Coker (Laura); O. Stegle (Oliver); O.L. Lopez; R. Schmidt; A. Teumer (Alexander); I. Ford; N. Karbalai (Nazanin); J.T. Becker (James); M.K. Jonsdottir (Maria K.); R. Au; R.S.N. Fehrmann (Rudolf); S. Herms (Stefan); M.A. Nalls (Michael); W. Zhao; S.T. Turner; K. Yaffe; K. Lohman (Kurt); J.C. van Swieten (John); S.L.R. Kardia; D.S. Knopman (David); W.M. Meeks (William); G. Heiss (Gerardo); E.G. Holliday (Elizabeth); P.W. Schofield; T. Tanaka (Toshiko); D.J. Stott (David J.); J. Wang (Jing); P.M. Ridker (Paul); A.J. Gow; A. Pattie (Alison); J.M. Starr (John); L.J. Hocking; N.J. Armstrong (Nicola J.); S. McLachlan (Stela); L. Shulman (Lee); L.C. Pilling (Luke); G. Eiriksdottir (Gudny); R.J. Scott; N.A. Kochan (Nicole A.); A. Palotie; Y.-C. Hsieh; J.G. Eriksson (Johan G.); A.D. Penman (Alan); R.F. Gottesman (Rebecca); B.A. Oostra (Ben); L. Yu; A.L. DeStefano (Anita L.); A. Beiser; M. Garcia; J.I. Rotter; M.M. Nöthen; A. Hofman (Albert); P.E. Slagboom (Eline); R.G.J. Westendorp; B.M. Buckley (Brendan M.); P.A. Wolf; A.G. Uitterlinden (André); B.M. Psaty (Bruce); H.J. Grabe (Hans Jörgen); S. Bandinelli (Stefania); D.I. Chasman (Daniel); F. Grodstein (Francine); K. Räikkönen (Katri); J.-C. Lambert; D.J. Porteous (David J.); J.F. Price (Jackie F.); P.S. Sachdev (Perminder); L. Ferrucci (Luigi); J. Attia (John); I. Rudan (Igor); C. Hayward; A.F. Wright; J.F. Wilson (James F); S. Cichon (Sven); L. Franke (Lude); H. Schmidt; J. Ding (Jingzhong); A.J. de Craen (Anton); M. Fornage (Myriam); D.A. Bennett (David); I.J. Deary (Ian); M.A. Ikram (Arfan); L.J. Launer (Lenore); A.L. Fitzpatrick; S. Seshadri (Sudha); C.M. van Duijn (Cornelia); T.H. Mosley (Thomas H.)

    2016-01-01

    textabstractTo identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide association study (GWAS) of executive functioning and information processing speed in non-demented older adults from the CHARGE (Cohorts for Heart and

  1. meQTL analysis of asthma GWAS loci and DNA methylation

    NARCIS (Netherlands)

    Kumar, Ashish; Soderhall, Cilla; Merid, Simon Kebede; Xu, Chengjian; Koppelman, Gerard; Melen, Erik; Gruzieva, Olena; Kere, Juha; Pershagen, Goran

    2016-01-01

    Background: Asthma is characterized as a chronic inflammation disease and has increased in prevalence over the decades. Genome-wide association studies (GWAS) have implicated several single nucleotide polymorphisms (SNPs) with varying risk estimates for asthma, but the etiology is still not fully

  2. Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes

    DEFF Research Database (Denmark)

    de Jong, Simone; van Eijk, Kristel R; Zeegers, Dave W L H

    2012-01-01

    of the Psychiatric GWAS consortium (PGC) yielded five novel loci for schizophrenia. In this study, we aim to highlight additional schizophrenia susceptibility loci from the PGC study by combining the top association findings from the discovery stage (9394 schizophrenia cases and 12 462 controls) with expression QTLs...

  3. Power in GWAS: lifting the curse of the clinical cut-off

    NARCIS (Netherlands)

    van der Sluis, S.; Posthuma, D.; Nivard, M.G.; Verhage, M.; Dolan, C.V.

    2013-01-01

    Although genome-wide association studies (GWAS), in general, facilitated important discovery of new biological knowledge about diseases,1, 2, 3 identified variants for psychiatric disorders explain little variation, and insight into the role of genes in highly heritable psychiatric traits remains

  4. A genome-wide association scan (GWAS) for mean telomere length within the COGS project

    DEFF Research Database (Denmark)

    Pooley, Karen A; Bojesen, Stig E; Weischer, Maren

    2013-01-01

    Mean telomere length (TL) in blood cells is heritable and has been reported to be associated with risks of several diseases, including cancer. We conducted a meta-analysis of three GWAS for TL (total n=2240) and selected 1629 variants for replication via the "iCOGS" custom genotyping array. All...

  5. Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution

    NARCIS (Netherlands)

    Patel, Aniruddh P.; Peloso, Gina M.; Pirruccello, James P.; Johansen, Christopher T.; Dubé, Joseph B.; Larach, Daniel B.; Ban, Matthew R.; Dallinge-Thie, Geesje M.; Gupta, Namrata; Boehnke, Michael; Abecasis, Gonçalo R.; Kastelein, John J. P.; Hovingh, G. Kees; Hegele, Robert A.; Rader, Daniel J.; Kathiresan, Sekar

    2016-01-01

    Genome-wide association studies (GWAS) for plasma lipid levels have mapped numerous genomic loci, with each region often containing many protein-coding genes. Targeted re-sequencing of exons is a strategy to pinpoint causal variants and genes. We performed solution-based hybrid selection of 9008

  6. Analysis and visualization of Arabidopsis thaliana GWAS using web 2.0 technologies.

    Science.gov (United States)

    Huang, Yu S; Horton, Matthew; Vilhjálmsson, Bjarni J; Seren, Umit; Meng, Dazhe; Meyer, Christopher; Ali Amer, Muhammad; Borevitz, Justin O; Bergelson, Joy; Nordborg, Magnus

    2011-01-01

    With large-scale genomic data becoming the norm in biological studies, the storing, integrating, viewing and searching of such data have become a major challenge. In this article, we describe the development of an Arabidopsis thaliana database that hosts the geographic information and genetic polymorphism data for over 6000 accessions and genome-wide association study (GWAS) results for 107 phenotypes representing the largest collection of Arabidopsis polymorphism data and GWAS results to date. Taking advantage of a series of the latest web 2.0 technologies, such as Ajax (Asynchronous JavaScript and XML), GWT (Google-Web-Toolkit), MVC (Model-View-Controller) web framework and Object Relationship Mapper, we have created a web-based application (web app) for the database, that offers an integrated and dynamic view of geographic information, genetic polymorphism and GWAS results. Essential search functionalities are incorporated into the web app to aid reverse genetics research. The database and its web app have proven to be a valuable resource to the Arabidopsis community. The whole framework serves as an example of how biological data, especially GWAS, can be presented and accessed through the web. In the end, we illustrate the potential to gain new insights through the web app by two examples, showcasing how it can be used to facilitate forward and reverse genetics research. Database URL: http://arabidopsis.usc.edu/

  7. Plagiarism in scientific publishing.

    Science.gov (United States)

    Masic, Izet

    2012-12-01

    Scientific publishing is the ultimate product of scientist work. Number of publications and their quoting are measures of scientist success while unpublished researches are invisible to the scientific community, and as such nonexistent. Researchers in their work rely on their predecessors, while the extent of use of one scientist work, as a source for the work of other authors is the verification of its contributions to the growth of human knowledge. If the author has published an article in a scientific journal it cannot publish the article in any other journal h with a few minor adjustments or without quoting parts of the first article, which are used in another article. Copyright infringement occurs when the author of a new article with or without the mentioning the author used substantial portions of previously published articles, including tables and figures. Scientific institutions and universities should,in accordance with the principles of Good Scientific Practice (GSP) and Good Laboratory Practices (GLP) have a center for monitoring,security, promotion and development of quality research. Establish rules and compliance to rules of good scientific practice are the obligations of each research institutions,universities and every individual-researchers,regardless of which area of science is investigated. In this way, internal quality control ensures that a research institution such as a university, assume responsibility for creating an environment that promotes standards of excellence, intellectual honesty and legality. Although the truth should be the aim of scientific research, it is not guiding fact for all scientists. The best way to reach the truth in its study and to avoid the methodological and ethical mistakes is to consistently apply scientific methods and ethical standards in research. Although variously defined plagiarism is basically intended to deceive the reader's own scientific contribution. There is no general regulation of control of

  8. PLAGIARISM IN SCIENTIFIC PUBLISHING

    Science.gov (United States)

    Masic, Izet

    2012-01-01

    Scientific publishing is the ultimate product of scientist work. Number of publications and their quoting are measures of scientist success while unpublished researches are invisible to the scientific community, and as such nonexistent. Researchers in their work rely on their predecessors, while the extent of use of one scientist work, as a source for the work of other authors is the verification of its contributions to the growth of human knowledge. If the author has published an article in a scientific journal it cannot publish the article in any other journal h with a few minor adjustments or without quoting parts of the first article, which are used in another article. Copyright infringement occurs when the author of a new article with or without the mentioning the author used substantial portions of previously published articles, including tables and figures. Scientific institutions and universities should,in accordance with the principles of Good Scientific Practice (GSP) and Good Laboratory Practices (GLP) have a center for monitoring,security, promotion and development of quality research. Establish rules and compliance to rules of good scientific practice are the obligations of each research institutions,universities and every individual-researchers,regardless of which area of science is investigated. In this way, internal quality control ensures that a research institution such as a university, assume responsibility for creating an environment that promotes standards of excellence, intellectual honesty and legality. Although the truth should be the aim of scientific research, it is not guiding fact for all scientists. The best way to reach the truth in its study and to avoid the methodological and ethical mistakes is to consistently apply scientific methods and ethical standards in research. Although variously defined plagiarism is basically intended to deceive the reader’s own scientific contribution. There is no general regulation of control of

  9. GWAS with longitudinal phenotypes : performance of approximate procedures

    NARCIS (Netherlands)

    Sikorska, Karolina; Mostafavi, Nahid; Uitterlinden, André; Rivadeneira, Fernando; Eilers, Paul HC; Lesaffre, Emmanuel

    2015-01-01

    Analysis of genome-wide association studies with longitudinal data using standard procedures, such as linear mixed model (LMM) fitting, leads to discouragingly long computation times. There is a need to speed up the computations significantly. In our previous work (Sikorska et al: Fast linear mixed

  10. GWAS with longitudinal phenotypes: Performance of approximate procedures

    NARCIS (Netherlands)

    K. Sikorska (Karolina); N.M. Montazeri (Nahid Mostafavi); A.G. Uitterlinden (André); F. Rivadeneira Ramirez (Fernando); P.H.C. Eilers (Paul); E.M.E.H. Lesaffre (Emmanuel)

    2015-01-01

    textabstractAnalysis of genome-wide association studies with longitudinal data using standard procedures, such as linear mixed model (LMM) fitting, leads to discouragingly long computation times. There is a need to speed up the computations significantly. In our previous work (Sikorska et al: Fast

  11. Embracing Electronic Publishing.

    Science.gov (United States)

    Wills, Gordon

    1996-01-01

    Electronic publishing is the grandest revolution in the capture and dissemination of academic and professional knowledge since Caxton developed the printing press. This article examines electronic publishing, describes different electronic publishing scenarios (authors' cooperative, consolidator/retailer/agent oligopsony, publisher oligopoly), and…

  12. PUBLISHER'S ANNOUNCEMENT: Refereeing standards

    Science.gov (United States)

    Bender, C.; Scriven, N.

    2004-08-01

    On 1 January 2004 I will be assuming the position of Editor-in-Chief of Journal of Physics A: Mathematical and General (J. Phys. A). I am flattered at the confidence expressed in my ability to carry out this challenging job and I will try hard to justify this confidence. The previous Editor-in-Chief, Ed Corrigan, has worked tirelessly for the last five years and has done an excellent job for the journal. Everyone at the journal is profoundly grateful for his leadership and for his achievements. Before accepting the position of Editor-in-Chief, I visited the office of J. Phys. A to examine the organization and to assess its strengths and weaknesses. This office is located at the Institute of Physics Publishing (IOPP) headquarters in Bristol. J. Phys. A has been expanding rapidly and now publishes at the rate of nearly 1000 articles (or about 14,000 pages) per year. The entire operation of the journal is conducted in a very small space---about 15 square metres! Working in this space are six highly intelligent, talented, hard working, and dedicated people: Neil Scriven, Publisher; Mike Williams, Publishing Editor; Rose Gray and Sarah Nadin, Publishing Administrators; Laura Smith and Steve Richards, Production Editors. In this small space every day about eight submitted manuscripts are downloaded from the computer or received in the post. These papers are then processed and catalogued, referees are selected, and the papers are sent out for evaluation. In this small space the referees' reports are received, publication decisions are made, and accepted articles are then published quickly by IOPP. The whole operation is amazingly efficient. Indeed, one of the great strengths of J. Phys. A is the speed at which papers are processed. The average time between the receipt of a manuscript and an editorial decision is under sixty days. (Many distinguished journals take three to five times this amount of time.) This speed of publication is an extremely strong enticement for

  13. Copyright of Electronic Publishing.

    Science.gov (United States)

    Dong, Elaine; Wang, Bob

    2002-01-01

    Analyzes the importance of copyright, considers the main causes of copyright infringement in electronic publishing, discusses fair use of a copyrighted work, and suggests methods to safeguard copyrighted electronic publishing, including legislation, contracts, and technology. (Author/LRW)

  14. Publishing: The Creative Business.

    Science.gov (United States)

    Bohne, Harald; Van Ierssel, Harry

    This book offers guidelines to emerging and would-be publishers, whether they plan to enter publishing as a career, a sideline, or a diversion. It stresses the business aspects of publishing and emphasizes the major housekeeping functions encountered in the business, except methods of sales and distribution. Contents include "The Mechanics of…

  15. Academic Nightmares: Predatory Publishing

    Science.gov (United States)

    Van Nuland, Sonya E.; Rogers, Kem A.

    2017-01-01

    Academic researchers who seek to publish their work are confronted daily with a barrage of e-mails from aggressive marketing campaigns that solicit them to publish their research with a specialized, often newly launched, journal. Known as predatory journals, they often promise high editorial and publishing standards, yet their exploitive business…

  16. Desktop Publishing Made Simple.

    Science.gov (United States)

    Wentling, Rose Mary

    1989-01-01

    The author discusses the types of computer hardware and software necessary to set up a desktop publishing system, both for use in educational administration and for instructional purposes. Classroom applications of desktop publishing are presented. The author also provides guidelines for preparing to teach desktop publishing. (CH)

  17. Data Sharing & Publishing at Nature Publishing Group

    Science.gov (United States)

    VanDecar, J. C.; Hrynaszkiewicz, I.; Hufton, A. L.

    2015-12-01

    In recent years, the research community has come to recognize that upon-request data sharing has important limitations1,2. The Nature-titled journals feel that researchers have a duty to share data without undue qualifications, in a manner that allows others to replicate and build upon their published findings. Historically, the Nature journals have been strong supporters of data deposition in communities with existing data mandates, and have required data sharing upon request in all other cases. To help address some of the limitations of upon-request data sharing, the Nature titles have strengthened their existing data policies and forged a new partnership with Scientific Data, to promote wider data sharing in discoverable, citeable and reusable forms, and to ensure that scientists get appropriate credit for sharing3. Scientific Data is a new peer-reviewed journal for descriptions of research datasets, which works with a wide of range of public data repositories4. Articles at Scientific Data may either expand on research publications at other journals or may be used to publish new datasets. The Nature Publishing Group has also signed the Joint Declaration of Data Citation Principles5, and Scientific Data is our first journal to include formal data citations. We are currently in the process of adding data citation support to our various journals. 1 Wicherts, J. M., Borsboom, D., Kats, J. & Molenaar, D. The poor availability of psychological research data for reanalysis. Am. Psychol. 61, 726-728, doi:10.1037/0003-066x.61.7.726 (2006). 2 Vines, T. H. et al. Mandated data archiving greatly improves access to research data. FASEB J. 27, 1304-1308, doi:10.1096/fj.12-218164 (2013). 3 Data-access practices strengthened. Nature 515, 312, doi:10.1038/515312a (2014). 4 More bang for your byte. Sci. Data 1, 140010, doi:10.1038/sdata.2014.10 (2014). 5 Data Citation Synthesis Group: Joint Declaration of Data Citation Principles. (FORCE11, San Diego, CA, 2014).

  18. Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).

    Science.gov (United States)

    Kühnisch, Jan; Thiering, Elisabeth; Heitmüller, Daniela; Tiesler, Carla M T; Grallert, Harald; Heinrich-Weltzien, Roswitha; Hickel, Reinhard; Heinrich, Joachim

    2014-01-01

    This genome-wide association study (GWAS) investigated the relationship between molar-incisor hypomineralization (MIH) and possible genetic loci. Clinical and genetic data from the 10-year follow-up of 668 children from the Munich GINI-plus and LISA-plus birth cohort studies were analyzed. The dental examinations included the diagnosis of MIH according to the criteria of the European Academy of Paediatric Dentistry (EAPD). Children with MIH were categorized as those with a minimum of one hypomineralized first permanent molar. A GWAS was implemented following a quality-control step and an additive genetic effect was assumed. A total of 2,013,491 single-nucleotide polymorphisms (SNPs) were available for analysis. Rs13058467, which is located near the SCUBE1 gene on chromosome 22 (p MIH when using a threshold of p value MIH.

  19. Results of a "GWAS plus:" general cognitive ability is substantially heritable and massively polygenic.

    Directory of Open Access Journals (Sweden)

    Robert M Kirkpatrick

    Full Text Available We carried out a genome-wide association study (GWAS for general cognitive ability (GCA plus three other analyses of GWAS data that aggregate the effects of multiple single-nucleotide polymorphisms (SNPs in various ways. Our multigenerational sample comprised 7,100 Caucasian participants, drawn from two longitudinal family studies, who had been assessed with an age-appropriate IQ test and had provided DNA samples passing quality screens. We conducted the GWAS across ∼ 2.5 million SNPs (both typed and imputed, using a generalized least-squares method appropriate for the different family structures present in our sample, and subsequently conducted gene-based association tests. We also conducted polygenic prediction analyses under five-fold cross-validation, using two different schemes of weighting SNPs. Using parametric bootstrapping, we assessed the performance of this prediction procedure under the null. Finally, we estimated the proportion of variance attributable to all genotyped SNPs as random effects with software GCTA. The study is limited chiefly by its power to detect realistic single-SNP or single-gene effects, none of which reached genome-wide significance, though some genomic inflation was evident from the GWAS. Unit SNP weights performed about as well as least-squares regression weights under cross-validation, but the performance of both increased as more SNPs were included in calculating the polygenic score. Estimates from GCTA were 35% of phenotypic variance at the recommended biological-relatedness ceiling. Taken together, our results concur with other recent studies: they support a substantial heritability of GCA, arising from a very large number of causal SNPs, each of very small effect. We place our study in the context of the literature-both contemporary and historical-and provide accessible explication of our statistical methods.

  20. The Contribution of GWAS Loci in Familial Dyslipidemias

    Science.gov (United States)

    Söderlund, Sanni; Surakka, Ida; Matikainen, Niina; Pirinen, Matti; Pajukanta, Päivi; Service, Susan K.; Laurila, Pirkka-Pekka; Ehnholm, Christian; Salomaa, Veikko; Wilson, Richard K.; Palotie, Aarno; Freimer, Nelson B.; Taskinen, Marja-Riitta; Ripatti, Samuli

    2016-01-01

    Familial combined hyperlipidemia (FCH) is a complex and common familial dyslipidemia characterized by elevated total cholesterol and/or triglyceride levels with over five-fold risk of coronary heart disease. The genetic architecture and contribution of rare Mendelian and common variants to FCH susceptibility is unknown. In 53 Finnish FCH families, we genotyped and imputed nine million variants in 715 family members with DNA available. We studied the enrichment of variants previously implicated with monogenic dyslipidemias and/or lipid levels in the general population by comparing allele frequencies between the FCH families and population samples. We also constructed weighted polygenic scores using 212 lipid-associated SNPs and estimated the relative contributions of Mendelian variants and polygenic scores to the risk of FCH in the families. We identified, across the whole allele frequency spectrum, an enrichment of variants known to elevate, and a deficiency of variants known to lower LDL-C and/or TG levels among both probands and affected FCH individuals. The score based on TG associated SNPs was particularly high among affected individuals compared to non-affected family members. Out of 234 affected FCH individuals across the families, seven (3%) carried Mendelian variants and 83 (35%) showed high accumulation of either known LDL-C or TG elevating variants by having either polygenic score over the 90th percentile in the population. The positive predictive value of high score was much higher for affected FCH individuals than for similar sporadic cases in the population. FCH is highly polygenic, supporting the hypothesis that variants across the whole allele frequency spectrum contribute to this complex familial trait. Polygenic SNP panels improve identification of individuals affected with FCH, but their clinical utility remains to be defined. PMID:27227539

  1. A simulation study of gene-by-environment interactions in GWAS implies ample hidden effects

    Science.gov (United States)

    Marigorta, Urko M.; Gibson, Greg

    2014-01-01

    The switch to a modern lifestyle in recent decades has coincided with a rapid increase in prevalence of obesity and other diseases. These shifts in prevalence could be explained by the release of genetic susceptibility for disease in the form of gene-by-environment (GxE) interactions. Yet, the detection of interaction effects requires large sample sizes, little replication has been reported, and a few studies have demonstrated environmental effects only after summing the risk of GWAS alleles into genetic risk scores (GRSxE). We performed extensive simulations of a quantitative trait controlled by 2500 causal variants to inspect the feasibility to detect gene-by-environment interactions in the context of GWAS. The simulated individuals were assigned either to an ancestral or a modern setting that alters the phenotype by increasing the effect size by 1.05–2-fold at a varying fraction of perturbed SNPs (from 1 to 20%). We report two main results. First, for a wide range of realistic scenarios, highly significant GRSxE is detected despite the absence of individual genotype GxE evidence at the contributing loci. Second, an increase in phenotypic variance after environmental perturbation reduces the power to discover susceptibility variants by GWAS in mixed cohorts with individuals from both ancestral and modern environments. We conclude that a pervasive presence of gene-by-environment effects can remain hidden even though it contributes to the genetic architecture of complex traits. PMID:25101110

  2. Genetic variation in HTR4 and lung function: GWAS follow-up in mouse.

    Science.gov (United States)

    House, John S; Li, Huiling; DeGraff, Laura M; Flake, Gordon; Zeldin, Darryl C; London, Stephanie J

    2015-01-01

    Human genome-wide association studies (GWASs) have identified numerous associations between single nucleotide polymorphisms (SNPs) and pulmonary function. Proving that there is a causal relationship between GWAS SNPs, many of which are noncoding and without known functional impact, and these traits has been elusive. Furthermore, noncoding GWAS-identified SNPs may exert trans-regulatory effects rather than impact the proximal gene. Noncoding variants in 5-hydroxytryptamine (serotonin) receptor 4 (HTR4) are associated with pulmonary function in human GWASs. To gain insight into whether this association is causal, we tested whether Htr4-null mice have altered pulmonary function. We found that HTR4-deficient mice have 12% higher baseline lung resistance and also increased methacholine-induced airway hyperresponsiveness (AHR) as measured by lung resistance (27%), tissue resistance (48%), and tissue elastance (30%). Furthermore, Htr4-null mice were more sensitive to serotonin-induced AHR. In models of exposure to bacterial lipopolysaccharide, bleomycin, and allergic airway inflammation induced by house dust mites, pulmonary function and cytokine profiles in Htr4-null mice differed little from their wild-type controls. The findings of altered baseline lung function and increased AHR in Htr4-null mice support a causal relationship between genetic variation in HTR4 and pulmonary function identified in human GWAS. © FASEB.

  3. Improved Use of Small Reference Panels for Conditional and Joint Analysis with GWAS Summary Statistics.

    Science.gov (United States)

    Deng, Yangqing; Pan, Wei

    2018-06-01

    Due to issues of practicality and confidentiality of genomic data sharing on a large scale, typically only meta- or mega-analyzed genome-wide association study (GWAS) summary data, not individual-level data, are publicly available. Reanalyses of such GWAS summary data for a wide range of applications have become more and more common and useful, which often require the use of an external reference panel with individual-level genotypic data to infer linkage disequilibrium (LD) among genetic variants. However, with a small sample size in only hundreds, as for the most popular 1000 Genomes Project European sample, estimation errors for LD are not negligible, leading to often dramatically increased numbers of false positives in subsequent analyses of GWAS summary data. To alleviate the problem in the context of association testing for a group of SNPs, we propose an alternative estimator of the covariance matrix with an idea similar to multiple imputation. We use numerical examples based on both simulated and real data to demonstrate the severe problem with the use of the 1000 Genomes Project reference panels, and the improved performance of our new approach. Copyright © 2018 by the Genetics Society of America.

  4. Publishing studies: what else?

    Directory of Open Access Journals (Sweden)

    Bertrand Legendre

    2015-07-01

    Full Text Available This paper intends to reposition “publishing studies” in the long process that goes from the beginning of book history to the current research on cultural industries. It raises questions about interdisciplinarity and the possibility of considering publishing independently of other sectors of the media and cultural offerings. Publishing is now included in a large range of industries and, at the same time, analyses tend to become more and more segmented according to production sectors and scientific fields. In addition to the problems created, from the professional point of view, by this double movement, this one requires a questioning of the concept of “publishing studies”.

  5. Laparoscopy After Previous Laparotomy

    Directory of Open Access Journals (Sweden)

    Zulfo Godinjak

    2006-11-01

    Full Text Available Following the abdominal surgery, extensive adhesions often occur and they can cause difficulties during laparoscopic operations. However, previous laparotomy is not considered to be a contraindication for laparoscopy. The aim of this study is to present that an insertion of Veres needle in the region of umbilicus is a safe method for creating a pneumoperitoneum for laparoscopic operations after previous laparotomy. In the last three years, we have performed 144 laparoscopic operations in patients that previously underwent one or two laparotomies. Pathology of digestive system, genital organs, Cesarean Section or abdominal war injuries were the most common causes of previouslaparotomy. During those operations or during entering into abdominal cavity we have not experienced any complications, while in 7 patients we performed conversion to laparotomy following the diagnostic laparoscopy. In all patients an insertion of Veres needle and trocar insertion in the umbilical region was performed, namely a technique of closed laparoscopy. Not even in one patient adhesions in the region of umbilicus were found, and no abdominal organs were injured.

  6. Publisher Correction to

    NARCIS (Netherlands)

    Barrio, Isabel C.; Lindén, Elin; Beest, Te Mariska; Olofsson, Johan; Rocha, Adrian; Soininen, Eeva M.; Alatalo, Juha M.; Andersson, Tommi; Asmus, Ashley; Boike, Julia; Bråthen, Kari Anne; Bryant, John P.; Buchwal, Agata; Bueno, C.G.; Christie, Katherine S.; Egelkraut, Dagmar; Ehrich, Dorothee; Fishback, Lee Ann; Forbes, Bruce C.; Gartzia, Maite; Grogan, Paul; Hallinger, Martin; Heijmans, Monique M.P.D.; Hik, David S.; Hofgaard, Annika; Holmgren, Milena; Høye, Toke T.; Huebner, Diane C.; Jónsdóttir, Ingibjörg Svala; Kaarlejärvi, Elina; Kumpula, Timo; Lange, Cynthia Y.M.J.G.; Lange, Jelena; Lévesque, Esther; Limpens, Juul; Macias-Fauria, Marc; Myers-Smith, Isla; Nieukerken, van Erik J.; Normand, Signe; Post, Eric S.; Schmidt, Niels Martin; Sitters, Judith; Skoracka, Anna; Sokolov, Alexander; Sokolova, Natalya; Speed, James D.M.; Street, Lorna E.; Sundqvist, Maja K.; Suominen, Otso; Tananaev, Nikita; Tremblay, Jean Pierre; Urbanowicz, Christine; Uvarov, Sergey A.; Watts, David; Wilmking, Martin; Wookey, Philip A.; Zimmermann, Heike H.; Zverev, Vitali; Kozlov, Mikhail V.

    2018-01-01

    The above mentioned article was originally scheduled for publication in the special issue on Ecology of Tundra Arthropods with guest editors Toke T. Høye . Lauren E. Culler. Erroneously, the article was published in Polar Biology, Volume 40, Issue 11, November, 2017. The publisher sincerely

  7. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0258-252X. AJOL African Journals Online.

  8. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1596-6798. AJOL African Journals Online.

  9. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1115-2613. AJOL African Journals Online.

  10. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0047-651X. AJOL African Journals Online.

  11. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0856-7212. AJOL African Journals Online.

  12. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0378-4738. AJOL African Journals Online.

  13. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0254-2765. AJOL African Journals Online.

  14. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0850-3907. AJOL African Journals Online.

  15. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2141-8322. AJOL African Journals Online.

  16. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0794-7410. AJOL African Journals Online.

  17. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2078-6778. AJOL African Journals Online.

  18. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2305-8862. AJOL African Journals Online.

  19. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1596-9819. AJOL African Journals Online.

  20. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0379-4350. AJOL African Journals Online.

  1. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2408-8137. AJOL African Journals Online.

  2. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1029-5933. AJOL African Journals Online.

  3. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2467-8252. AJOL African Journals Online.

  4. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0376-4753. AJOL African Journals Online.

  5. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1118-1028. AJOL African Journals Online.

  6. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1597-4292. AJOL African Journals Online.

  7. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0189-9686. AJOL African Journals Online.

  8. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2360-994X. AJOL African Journals Online.

  9. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1595-1413. AJOL African Journals Online.

  10. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2078-5151. AJOL African Journals Online.

  11. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1694-0423. AJOL African Journals Online.

  12. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0855-4307. AJOL African Journals Online.

  13. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1596-9827. AJOL African Journals Online.

  14. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0379-9069. AJOL African Journals Online.

  15. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1998-1279. AJOL African Journals Online.

  16. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1606-7479. AJOL African Journals Online.

  17. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1995-7262. AJOL African Journals Online.

  18. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0856-8960. AJOL African Journals Online.

  19. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0855-5591. AJOL African Journals Online.

  20. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1531-4065. AJOL African Journals Online.

  1. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1110-5607. AJOL African Journals Online.

  2. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2076-7714. AJOL African Journals Online.

  3. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1858-554X. AJOL African Journals Online.

  4. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1994-8220. AJOL African Journals Online.

  5. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1596-6232. AJOL African Journals Online.

  6. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2224-0020. AJOL African Journals Online.

  7. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0556-8641. AJOL African Journals Online.

  8. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1596-5414. AJOL African Journals Online.

  9. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2305-2678. AJOL African Journals Online.

  10. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1119-3077. AJOL African Journals Online.

  11. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2078-676X. AJOL African Journals Online.

  12. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1027-4332. AJOL African Journals Online.

  13. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1814-232X. AJOL African Journals Online.

  14. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1998-9881. AJOL African Journals Online.

  15. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0303-691X. AJOL African Journals Online.

  16. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0376-8902. AJOL African Journals Online.

  17. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2507-7961. AJOL African Journals Online.

  18. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0189-5117. AJOL African Journals Online.

  19. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1012-2796. AJOL African Journals Online.

  20. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2313-1799. AJOL African Journals Online.

  1. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1025-9848. AJOL African Journals Online.

  2. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2449-108X. AJOL African Journals Online.

  3. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2141-9884. AJOL African Journals Online.

  4. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1727-3781. AJOL African Journals Online.

  5. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2090-7214. AJOL African Journals Online.

  6. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2410-8936. AJOL African Journals Online.

  7. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0856-0714. AJOL African Journals Online.

  8. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1684-5374. AJOL African Journals Online.

  9. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1998-8125. AJOL African Journals Online.

  10. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1016-0728. AJOL African Journals Online.

  11. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1821-9241. AJOL African Journals Online.

  12. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1607-0011. AJOL African Journals Online.

  13. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. AJOL African Journals Online. HOW TO USE ...

  14. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2591 6831. AJOL African Journals Online.

  15. Desktop Publishing for Counselors.

    Science.gov (United States)

    Lucking, Robert; Mitchum, Nancy

    1990-01-01

    Discusses the fundamentals of desktop publishing for counselors, including hardware and software systems and peripherals. Notes by using desktop publishing, counselors can produce their own high-quality documents without the expense of commercial printers. Concludes computers present a way of streamlining the communications of a counseling…

  16. Publishing: Alternatives and Economics.

    Science.gov (United States)

    Penchansky, Mimi; And Others

    The Library Association of the City University of New York presents an annotated bibliography on the subject of small and alternative publishing. In the first section directories, indexes, catalogs, and reviews are briefly described. Book distributors for small publishers are listed next. The major portion of the bibliography is a listing of books…

  17. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1999-7671. AJOL African Journals Online.

  18. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1110-6859. AJOL African Journals Online.

  19. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0794-4721. AJOL African Journals Online.

  20. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2520–7997. AJOL African Journals Online.

  1. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 2072-6589. AJOL African Journals Online.

  2. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 0012-835X. AJOL African Journals Online.

  3. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1680-6905. AJOL African Journals Online.

  4. About this Publishing System

    African Journals Online (AJOL)

    This journal uses Open Journal Systems 2.4.3.0, which is open source journal management and publishing software developed, supported, and freely distributed by the Public Knowledge Project under the GNU General Public License. OJS Editorial and Publishing Process. ISSN: 1821-8148. AJOL African Journals Online.

  5. HiView: an integrative genome browser to leverage Hi-C results for the interpretation of GWAS variants.

    Science.gov (United States)

    Xu, Zheng; Zhang, Guosheng; Duan, Qing; Chai, Shengjie; Zhang, Baqun; Wu, Cong; Jin, Fulai; Yue, Feng; Li, Yun; Hu, Ming

    2016-03-11

    Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with complex traits and diseases. However, most of them are located in the non-protein coding regions, and therefore it is challenging to hypothesize the functions of these non-coding GWAS variants. Recent large efforts such as the ENCODE and Roadmap Epigenomics projects have predicted a large number of regulatory elements. However, the target genes of these regulatory elements remain largely unknown. Chromatin conformation capture based technologies such as Hi-C can directly measure the chromatin interactions and have generated an increasingly comprehensive catalog of the interactome between the distal regulatory elements and their potential target genes. Leveraging such information revealed by Hi-C holds the promise of elucidating the functions of genetic variants in human diseases. In this work, we present HiView, the first integrative genome browser to leverage Hi-C results for the interpretation of GWAS variants. HiView is able to display Hi-C data and statistical evidence for chromatin interactions in genomic regions surrounding any given GWAS variant, enabling straightforward visualization and interpretation. We believe that as the first GWAS variants-centered Hi-C genome browser, HiView is a useful tool guiding post-GWAS functional genomics studies. HiView is freely accessible at: http://www.unc.edu/~yunmli/HiView .

  6. The Integration of Epistasis Network and Functional Interactions in a GWAS Implicates RXR Pathway Genes in the Immune Response to Smallpox Vaccine.

    Directory of Open Access Journals (Sweden)

    Brett A McKinney

    Full Text Available Although many diseases and traits show large heritability, few genetic variants have been found to strongly separate phenotype groups by genotype. Complex regulatory networks of variants and expression of multiple genes lead to small individual-variant effects and difficulty replicating the effect of any single variant in an affected pathway. Interaction network modeling of GWAS identifies effects ignored by univariate models, but population differences may still cause specific genes to not replicate. Integrative network models may help detect indirect effects of variants in the underlying biological pathway. In this study, we used gene-level functional interaction information from the Integrative Multi-species Prediction (IMP tool to reveal important genes associated with a complex phenotype through evidence from epistasis networks and pathway enrichment. We test this method for augmenting variant-based network analyses with functional interactions by applying it to a smallpox vaccine immune response GWAS. The integrative analysis spotlights the role of genes related to retinoid X receptor alpha (RXRA, which has been implicated in a previous epistasis network analysis of smallpox vaccine.

  7. The Academic Publishing Industry

    DEFF Research Database (Denmark)

    Nell, Phillip Christopher; Wenzel, Tim Ole; Schmidt, Florian

    2014-01-01

    The case starts with introducing the outstanding profitability of academic journal publishers such as Elsevier and then dives into describing the research process from an idea to conducting research and to publishing the results in academic journals. Subsequently, demand and supply for scientific...... journals and papers are discussed including drivers and involved parties. Furthermore, the case describes competition between suppliers, customers, and publishers. In sum, the case study features a rich description of the industry’s many unusual attributes which allows for discussing the benefits...

  8. Elearning and digital publishing

    CERN Document Server

    Ching, Hsianghoo Steve; Mc Naught, Carmel

    2006-01-01

    ""ELearning and Digital Publishing"" will occupy a unique niche in the literature accessed by library and publishing specialists, and by university teachers and planners. It examines the interfaces between the work done by four groups of university staff who have been in the past quite separate from, or only marginally related to, each other - library staff, university teachers, university policy makers, and staff who work in university publishing presses. All four groups are directly and intimately connected with the main functions of universities - the creation, management and dissemination

  9. Desktop Publishing in Libraries.

    Science.gov (United States)

    Cisler, Steve

    1987-01-01

    Describes the components, costs, and capabilities of several desktop publishing systems, and examines their possible impact on work patterns within organizations. The text and graphics of the article were created using various microcomputer software packages. (CLB)

  10. Sisyphus desperately seeking publisher

    Indian Academy of Sciences (India)

    Antoinette Molinié

    The editors wield their Olympian authority by making today's scientists endlessly push their weighty boulders up ... since publishing has become a highly lucrative business. ... estimate that the richest 8.4 % own 83.3 % (see Global Wealth.

  11. Issues in Electronic Publishing.

    Science.gov (United States)

    Meadow, Charles T.

    1997-01-01

    Discusses issues related to electronic publishing. Topics include writing; reading; production, distribution, and commerce; copyright and ownership of intellectual property; archival storage; technical obsolescence; control of content; equality of access; and cultural changes. (Author/LRW)

  12. The Library as Publisher.

    Science.gov (United States)

    Field, Roy

    1979-01-01

    Presents a guide to for-profit library publishing of reprints, original manuscripts, and smaller items. Discussed are creation of a publications panel to manage finances and preparation, determining prices of items, and drawing up author contracts. (SW)

  13. The Book Publishing Industry

    OpenAIRE

    Jean-Paul Simon; Giuditta de Prato

    2012-01-01

    This report offers an in-depth analysis of the major economic developments in the book publishing industry. The analysis integrates data from a statistical report published earlier as part of this project. The report is divided into 4 main parts. Chapter 1, the introduction, puts the sector into an historical perspective. Chapter 2 introduces the markets at a global and regional level; describes some of the major EU markets (France, Germany, Italy, Spain and the United Kingdom). Chapter 3 ana...

  14. Open-Access Publishing

    Directory of Open Access Journals (Sweden)

    Nedjeljko Frančula

    2013-06-01

    Full Text Available Nature, one of the most prominent scientific journals dedicated one of its issues to recent changes in scientific publishing (Vol. 495, Issue 7442, 27 March 2013. Its editors stressed that words technology and revolution are closely related when it comes to scientific publishing. In addition, the transformation of research publishing is not as much a revolution than an attrition war in which all sides are buried. The most important change they refer to is the open-access model in which an author or an institution pays in advance for publishing a paper in a journal, and the paper is then available to users on the Internet free of charge.According to preliminary results of a survey conducted among 23 000 scientists by the publisher of Nature, 45% of them believes all papers should be published in open access, but at the same time 22% of them would not allow the use of papers for commercial purposes. Attitudes toward open access vary according to scientific disciplines, leading the editors to conclude the revolution still does not suit everyone.

  15. Publishers and repositories

    CERN Multimedia

    CERN. Geneva

    2007-01-01

    The impact of self-archiving on journals and publishers is an important topic for all those involved in scholarly communication. There is some evidence that the physics arXiv has had no impact on physics journals, while 'economic common sense' suggests that some impact is inevitable. I shall review recent studies of librarian attitudes towards repositories and journals, and place this in the context of IOP Publishing's experiences with arXiv. I shall offer some possible reasons for the mis-match between these perspectives and then discuss how IOP has linked with arXiv and experimented with OA publishing. As well as launching OA journals we have co-operated with Cornell and the arXiv on Eprintweb.org, a platform that offers new features to repository users. View Andrew Wray's biography

  16. Ethics in Scientific Publishing

    Science.gov (United States)

    Sage, Leslie J.

    2012-08-01

    We all learn in elementary school not turn in other people's writing as if it were our own (plagiarism), and in high school science labs not to fake our data. But there are many other practices in scientific publishing that are depressingly common and almost as unethical. At about the 20 percent level authors are deliberately hiding recent work -- by themselves as well as by others -- so as to enhance the apparent novelty of their most recent paper. Some people lie about the dates the data were obtained, to cover up conflicts of interest, or inappropriate use of privileged information. Others will publish the same conference proceeding in multiple volumes, or publish the same result in multiple journals with only trivial additions of data or analysis (self-plagiarism). These shady practices should be roundly condemned and stopped. I will discuss these and other unethical actions I have seen over the years, and steps editors are taking to stop them.

  17. Further support for association between GWAS variant for positive emotion and reward systems.

    Science.gov (United States)

    Lancaster, T M; Ihssen, N; Brindley, L M; Linden, D E J

    2017-01-31

    A recent genome-wide association study (GWAS) identified a significant single-nucleotide polymorphism (SNP) for trait-positive emotion at rs322931 on chromosome 1, which was also associated with brain activation in the reward system of healthy individuals when observing positive stimuli in a functional magnetic resonance imaging (fMRI) study. In the current study, we aimed to further validate the role of variation at rs322931 in reward processing. Using a similar fMRI approach, we use two paradigms that elicit a strong ventral striatum (VS) blood oxygen-level dependency (BOLD) response in a sample of young, healthy individuals (N=82). In the first study we use a similar picture-viewing task to the discovery sample (positive>neutral stimuli) to replicate an effect of the variant on emotion processing. In the second study we use a probabilistic reversal learning procedure to identify reward processing during decision-making under uncertainly (reward>punishment). In a region of interest (ROI) analysis of the bilateral VS, we show that the rs322931 genotype was associated with BOLD in the left VS during the positive>neutral contrast (P ROI-CORRECTED =0.045) and during the reward>punishment contrast (P ROI-CORRECTED =0.018), although the effect of passive picture viewing was in the opposite direction from that reported in the discovery sample. These findings suggest that the recently identified GWAS hit may influence positive emotion via individual differences in activity in the key hubs of the brain's reward system. Furthermore, these effects may not be limited to the passive viewing of positive emotional scenes, but may also be observed during dynamic decision-making. This study suggests that future studies of this GWAS locus may yield further insight into the biological mechanisms of psychopathologies characterised by deficits in reward processing and positive emotion.

  18. Molecular genetic studies in Saudi population; identified variants from GWAS and meta-analysis in stroke.

    Science.gov (United States)

    Alharbi, Khalid Khalaf; Ali Khan, Imran; Alotaibi, Mohammad Abdullah; Saud Aloyaid, Abdullah; Al-Basheer, Haifa Abdulaziz; Alghamdi, Naelah Abdullah; Al-Baradie, Raid Saleem; Al-Sulaiman, A M

    2018-01-01

    Stroke is a multifactorial and heterogeneous disorder, correlates with heritability and considered as one of the major diseases. The prior reports performed the variable models such as genome-wide association studies (GWAS), replication, case-control, cross-sectional and meta-analysis studies and still, we lack diagnostic marker in the global world. There are limited studies were carried out in Saudi population, and we aim to investigate the molecular association of single nucleotide polymorphisms (SNPs) identified through GWAS and meta-analysis studies in stroke patients in the Saudi population. In this case-control study, we have opted gender equality of 207 cases and 207 controls from the capital city of Saudi Arabia in King Saud University Hospital. The peripheral blood (5 ml) sample will be collected in two different vacutainers, and three mL of the coagulated blood will be used for lipid analysis (biochemical tests) and two mL will be used for DNA analysis (molecular tests). Genomic DNA will be extracted with the collected blood samples, and specific primers will be designed for the opted SNPs ( SORT1 -rs646218 and OLR1 -rs11053646 polymorphisms) and PCR-RFLP will be performed and randomly DNA sequencing will be carried out to cross check the results. The rs646218 and rs11053646 polymorphisms were significantly associated with allele, genotype and dominant models with and without crude odds ratios (OR's) and Multiple logistic regression analysis (p Saudi population. The current results were in the association with the prior study results documented through GWAS and meta-analysis association. However, other ethnic population studies should be performed to rule out in the human hereditary diseases.

  19. Publisher Correction: Predicting unpredictability

    Science.gov (United States)

    Davis, Steven J.

    2018-06-01

    In this News & Views article originally published, the wrong graph was used for panel b of Fig. 1, and the numbers on the y axes of panels a and c were incorrect; the original and corrected Fig. 1 is shown below. This has now been corrected in all versions of the News & Views.

  20. Web Publishing Schedule

    Science.gov (United States)

    Section 207(f)(2) of the E-Gov Act requires federal agencies to develop an inventory and establish a schedule of information to be published on their Web sites, make those schedules available for public comment. To post the schedules on the web site.

  1. Hprints - Licence to publish

    DEFF Research Database (Denmark)

    Rabow, Ingegerd; Sikström, Marjatta; Drachen, Thea Marie

    2010-01-01

    realised the potential advantages for them. The universities have a role here as well as the libraries that manage the archives and support scholars in various aspects of the publishing processes. Libraries are traditionally service providers with a mission to facilitate the knowledge production...

  2. The Academic Publishing Industry

    DEFF Research Database (Denmark)

    Nell, Phillip Christopher; Wenzel, Tim Ole; Schmidt, Florian

    2014-01-01

    . The case is intended to be used as a basis for class discussion rather than to illustrate effective handling of a managerial situation. It is based on published sources, interviews, and personal experience. The authors have disguised some names and other identifying information to protect confidentiality....

  3. Desktop Publishing in Education.

    Science.gov (United States)

    Hall, Wendy; Layman, J.

    1989-01-01

    Discusses the state of desktop publishing (DTP) in education today and describes the weaknesses of the systems available for use in the classroom. Highlights include document design and layout; text composition; graphics; word processing capabilities; a comparison of commercial and educational DTP packages; and skills required for DTP. (four…

  4. Support open access publishing

    DEFF Research Database (Denmark)

    Ekstrøm, Jeannette

    2013-01-01

    Projektet Support Open Access Publishing har til mål at få opdateret Sherpa/Romeo databasen (www.sherpa.ac.uk/romeo) med fagligt relevante, danske tidsskrifter. Projektet skal endvidere undersøge mulighederne for at få udviklet en database, hvor forskere på tværs af relevante tidsskriftsinformati......Projektet Support Open Access Publishing har til mål at få opdateret Sherpa/Romeo databasen (www.sherpa.ac.uk/romeo) med fagligt relevante, danske tidsskrifter. Projektet skal endvidere undersøge mulighederne for at få udviklet en database, hvor forskere på tværs af relevante...

  5. Prepare to publish.

    Science.gov (United States)

    Price, P M

    2000-01-01

    "I couldn't possibly write an article." "I don't have anything worthwhile to write about." "I am not qualified to write for publication." Do any of these statements sound familiar? This article is intended to dispel these beliefs. You can write an article. You care for the most complex patients in the health care system so you do have something worthwhile to write about. Beside correct spelling and grammar there are no special skills, certificates or diplomas required for publishing. You are qualified to write for publication. The purpose of this article is to take the mystique out of the publication process. Each step of publishing an article will be explained, from idea formation to framing your first article. Practical examples and recommendations will be presented. The essential components of the APA format necessary for Dynamics: The Official Journal of the Canadian Association of Critical Care Nurses will be outlined and resources to assist you will be provided.

  6. Reclaiming Society Publishing

    Directory of Open Access Journals (Sweden)

    Philip E. Steinberg

    2015-07-01

    Full Text Available Learned societies have become aligned with commercial publishers, who have increasingly taken over the latter’s function as independent providers of scholarly information. Using the example of geographical societies, the advantages and disadvantages of this trend are examined. It is argued that in an era of digital publication, learned societies can offer leadership with a new model of open access that can guarantee high quality scholarly material whose publication costs are supported by society membership dues.

  7. RETRACTION: Publishers' Note

    Science.gov (United States)

    post="(Executive Editor">Graeme Watt,

    2010-06-01

    Withdrawal of the paper "Was the fine-structure constant variable over cosmological time?" by L. D. Thong, N. M. Giao, N. T. Hung and T. V. Hung (EPL, 87 (2009) 69002) This paper has been formally withdrawn on ethical grounds because the article contains extensive and repeated instances of plagiarism. EPL treats all identified evidence of plagiarism in the published articles most seriously. Such unethical behaviour will not be tolerated under any circumstance. It is unfortunate that this misconduct was not detected before going to press. My thanks to Editor colleagues from other journals for bringing this fact to my attention.

  8. Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci

    DEFF Research Database (Denmark)

    Mirza, Aashiq H; Kaur, Simranjeet; Brorsson, Caroline A

    2014-01-01

    -nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) lie outside of the protein coding regions, and map to the non-coding intervals. However, the relationship between phenotype-associated loci and the non-coding regions including the long non-coding RNAs (lncRNAs) is poorly understood. Here......, we systemically identified all annotated IBD and T1D loci-associated lncRNAs, and mapped nominally significant GWAS/ImmunoChip SNPs for IBD and T1D within these lncRNAs. Additionally, we identified tissue-specific cis-eQTLs, and strong linkage disequilibrium (LD) signals associated with these SNPs...... within and in close proximity (+/-5 kb flanking regions) of IBD and T1D loci-associated candidate genes, suggesting that these RNA conformation-altering polymorphisms might be associated with diseased-phenotype. Disruption of lncRNA secondary structure due to presence of GWAS SNPs provides valuable...

  9. Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples

    DEFF Research Database (Denmark)

    den Hoed, M; Luan, J; Langenberg, C

    2013-01-01

    BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population-based sam......BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population......, these variants, which were identified in a GWAS for early onset and morbid obesity, do not seem to influence obesity-related traits in the general population....

  10. Interactions between household air pollution and GWAS-identified lung cancer susceptibility markers in the Female Lung Cancer Consortium in Asia (FLCCA).

    Science.gov (United States)

    Hosgood, H Dean; Song, Minsun; Hsiung, Chao Agnes; Yin, Zhihua; Shu, Xiao-Ou; Wang, Zhaoming; Chatterjee, Nilanjan; Zheng, Wei; Caporaso, Neil; Burdette, Laurie; Yeager, Meredith; Berndt, Sonja I; Landi, Maria Teresa; Chen, Chien-Jen; Chang, Gee-Chen; Hsiao, Chin-Fu; Tsai, Ying-Huang; Chien, Li-Hsin; Chen, Kuan-Yu; Huang, Ming-Shyan; Su, Wu-Chou; Chen, Yuh-Min; Chen, Chung-Hsing; Yang, Tsung-Ying; Wang, Chih-Liang; Hung, Jen-Yu; Lin, Chien-Chung; Perng, Reury-Perng; Chen, Chih-Yi; Chen, Kun-Chieh; Li, Yao-Jen; Yu, Chong-Jen; Chen, Yi-Song; Chen, Ying-Hsiang; Tsai, Fang-Yu; Kim, Christopher; Seow, Wei Jie; Bassig, Bryan A; Wu, Wei; Guan, Peng; He, Qincheng; Gao, Yu-Tang; Cai, Qiuyin; Chow, Wong-Ho; Xiang, Yong-Bing; Lin, Dongxin; Wu, Chen; Wu, Yi-Long; Shin, Min-Ho; Hong, Yun-Chul; Matsuo, Keitaro; Chen, Kexin; Wong, Maria Pik; Lu, Dara; Jin, Li; Wang, Jiu-Cun; Seow, Adeline; Wu, Tangchun; Shen, Hongbing; Fraumeni, Joseph F; Yang, Pan-Chyr; Chang, I-Shou; Zhou, Baosen; Chanock, Stephen J; Rothman, Nathaniel; Lan, Qing

    2015-03-01

    We previously carried out a multi-stage genome-wide association study (GWAS) on lung cancer among never smokers in the Female Lung Cancer Consortium in Asia (FLCCA) (6,609 cases, 7,457 controls) that identified novel susceptibility loci at 10q25.2, 6q22.2, and 6p21.32, and confirmed two previously identified loci at 5p15.33 and 3q28. Household air pollution (HAP) attributed to solid fuel burning for heating and cooking, is the leading cause of the overall disease burden in Southeast Asia, and is known to contain lung carcinogens. To evaluate the gene-HAP interactions associated with lung cancer in loci independent of smoking, we analyzed data from studies participating in FLCCA with fuel use information available (n = 3; 1,731 cases; 1,349 controls). Coal use was associated with a 30% increased risk of lung cancer (OR 1.3, 95% CI 1.0-1.6). Among the five a priori SNPs identified by our GWAS, two showed a significant interaction with coal use (HLA Class II rs2395185, p = 0.02; TP63 rs4488809 (rs4600802), p = 0.04). The risk of lung cancer associated with coal exposure varied with the respective alleles for these two SNPs. Our observations provide evidence that genetic variation in HLA Class II and TP63 may modify the association between HAP and lung cancer risk. The roles played in the cell cycle and inflammation pathways by the proteins encoded by these two genes provide biological plausibility for these interactions; however, additional replication studies are needed in other non-smoking populations.

  11. PUBLISHER'S ANNOUNCEMENT: Editorial developments

    Science.gov (United States)

    2009-01-01

    We are delighted to announce that from January 2009, Professor Murray T Batchelor of the Australian National University, Canberra will be the new Editor-in-Chief of Journal of Physics A: Mathematical and Theoretical. Murray Batchelor has been Editor of the Mathematical Physics section of the journal since 2007. Prior to this, he served as a Board Member and an Advisory Panel member for the journal. His primary area of research is the statistical mechanics of exactly solved models. He holds a joint appointment in mathematics and physics and has held visiting positions at the Universities of Leiden, Amsterdam, Oxford and Tokyo. We very much look forward to working with Murray to continue to improve the journal's quality and interest to the readership. We would like to thank our outgoing Editor-in-Chief, Professor Carl M Bender. Carl has done a magnificent job as Editor-in-Chief and has worked tirelessly to improve the journal over the last five years. Carl has been instrumental in designing and implementing strategies that have enhanced the quality of papers published and service provided by Journal of Physics A: Mathematical and Theoretical. Notably, under his tenure, we have introduced the Fast Track Communications (FTC) section to the journal. This section provides a venue for outstanding short papers that report new and timely developments in mathematical and theoretical physics and offers accelerated publication and high visibility for our authors. During the last five years, we have raised the quality threshold for acceptance in the journal and now reject over 60% of submissions. As a result, papers published in Journal of Physics A: Mathematical and Theoretical are amongst the best in the field. We have also maintained and improved on our excellent receipt-to-first-decision times, which now average less than 50 days for papers. We have recently announced another innovation; the Journal of Physics A Best Paper Prize. These prizes will honour excellent papers

  12. Why publish with AGU?

    Science.gov (United States)

    Graedel, T. E.

    The most visible activity of the American Geophysical Union is its publication of scientific journals. There are eight of these: Journal of Geophysical Research—Space Physics (JGR I), Journal of Geophysical Research—Solid Earth (JGR II), Journal of Geophysical Research—Oceans and Atmospheres (JGR III), Radio Science (RS), Water Resources Research (WRR), Geophysical Research Letters (GRL), Reviews of Geophysics and Space Physics (RGSP), and the newest, Tectonics.AGU's journals have established solid reputations for scientific excellence over the years. Reputation is not sufficient to sustain a high quality journal, however, since other factors enter into an author's decision on where to publish his or her work. In this article the characteristics of AGU's journals are compared with those of its competitors, with the aim of furnishing guidance to prospective authors and a better understanding of the value of the products to purchasers.

  13. A Markov blanket-based method for detecting causal SNPs in GWAS

    Directory of Open Access Journals (Sweden)

    Han Bing

    2010-04-01

    Full Text Available Abstract Background Detecting epistatic interactions associated with complex and common diseases can help to improve prevention, diagnosis and treatment of these diseases. With the development of genome-wide association studies (GWAS, designing powerful and robust computational method for identifying epistatic interactions associated with common diseases becomes a great challenge to bioinformatics society, because the study of epistatic interactions often deals with the large size of the genotyped data and the huge amount of combinations of all the possible genetic factors. Most existing computational detection methods are based on the classification capacity of SNP sets, which may fail to identify SNP sets that are strongly associated with the diseases and introduce a lot of false positives. In addition, most methods are not suitable for genome-wide scale studies due to their computational complexity. Results We propose a new Markov Blanket-based method, DASSO-MB (Detection of ASSOciations using Markov Blanket to detect epistatic interactions in case-control GWAS. Markov blanket of a target variable T can completely shield T from all other variables. Thus, we can guarantee that the SNP set detected by DASSO-MB has a strong association with diseases and contains fewest false positives. Furthermore, DASSO-MB uses a heuristic search strategy by calculating the association between variables to avoid the time-consuming training process as in other machine-learning methods. We apply our algorithm to simulated datasets and a real case-control dataset. We compare DASSO-MB to other commonly-used methods and show that our method significantly outperforms other methods and is capable of finding SNPs strongly associated with diseases. Conclusions Our study shows that DASSO-MB can identify a minimal set of causal SNPs associated with diseases, which contains less false positives compared to other existing methods. Given the huge size of genomic dataset

  14. Methods for meta-analysis of multiple traits using GWAS summary statistics.

    Science.gov (United States)

    Ray, Debashree; Boehnke, Michael

    2018-03-01

    Genome-wide association studies (GWAS) for complex diseases have focused primarily on single-trait analyses for disease status and disease-related quantitative traits. For example, GWAS on risk factors for coronary artery disease analyze genetic associations of plasma lipids such as total cholesterol, LDL-cholesterol, HDL-cholesterol, and triglycerides (TGs) separately. However, traits are often correlated and a joint analysis may yield increased statistical power for association over multiple univariate analyses. Recently several multivariate methods have been proposed that require individual-level data. Here, we develop metaUSAT (where USAT is unified score-based association test), a novel unified association test of a single genetic variant with multiple traits that uses only summary statistics from existing GWAS. Although the existing methods either perform well when most correlated traits are affected by the genetic variant in the same direction or are powerful when only a few of the correlated traits are associated, metaUSAT is designed to be robust to the association structure of correlated traits. metaUSAT does not require individual-level data and can test genetic associations of categorical and/or continuous traits. One can also use metaUSAT to analyze a single trait over multiple studies, appropriately accounting for overlapping samples, if any. metaUSAT provides an approximate asymptotic P-value for association and is computationally efficient for implementation at a genome-wide level. Simulation experiments show that metaUSAT maintains proper type-I error at low error levels. It has similar and sometimes greater power to detect association across a wide array of scenarios compared to existing methods, which are usually powerful for some specific association scenarios only. When applied to plasma lipids summary data from the METSIM and the T2D-GENES studies, metaUSAT detected genome-wide significant loci beyond the ones identified by univariate analyses

  15. A low frequency variant within the GWAS locus of MTNR1B affects fasting glucose concentrations: genetic risk is modulated by obesity.

    Science.gov (United States)

    Been, L F; Hatfield, J L; Shankar, A; Aston, C E; Ralhan, S; Wander, G S; Mehra, N K; Singh, J R; Mulvihill, J J; Sanghera, D K

    2012-11-01

    Two common variants (rs1387153, rs10830963) in MTNR1B have been reported to have independent effects on fasting blood glucose (FBG) levels with increased risk to type 2 diabetes (T2D) in recent genome-wide association studies (GWAS). In this investigation, we report the association of these two variants, and an additional variant (rs1374645) within the GWAS locus of MTNR1B with FBG, 2h glucose, insulin resistance (HOMA IR), β-cell function (HOMA B), and T2D in our sample of Asian Sikhs from India. Our cohort comprised 2222 subjects [1201 T2D, 1021 controls]. None of these SNPs was associated with T2D in this cohort. Our data also could not confirm association of rs1387153 and rs10830963 with FBG phenotype. However, upon stratifying data according to body mass index (BMI) (low ≤ 25 kg/m(2) and high > 25 kg/m(2)) in normoglycemic subjects (n = 1021), the rs1374645 revealed a strong association with low FBG levels in low BMI group (β = -0.073, p = 0.002, Bonferroni p = 0.01) compared to the high BMI group (β = 0.015, p = 0.50). We also detected a strong evidence of interaction between rs1374645 and BMI with respect to FBG levels (p = 0.002). Our data provide new information about the significant impact of another MTNR1B variant on FBG levels that appears to be modulated by BMI. Future confirmation on independent datasets and functional studies will be required to define the role of this variant in fasting glucose variation. Published by Elsevier B.V.

  16. Previously unknown species of Aspergillus.

    Science.gov (United States)

    Gautier, M; Normand, A-C; Ranque, S

    2016-08-01

    The use of multi-locus DNA sequence analysis has led to the description of previously unknown 'cryptic' Aspergillus species, whereas classical morphology-based identification of Aspergillus remains limited to the section or species-complex level. The current literature highlights two main features concerning these 'cryptic' Aspergillus species. First, the prevalence of such species in clinical samples is relatively high compared with emergent filamentous fungal taxa such as Mucorales, Scedosporium or Fusarium. Second, it is clearly important to identify these species in the clinical laboratory because of the high frequency of antifungal drug-resistant isolates of such Aspergillus species. Matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) has recently been shown to enable the identification of filamentous fungi with an accuracy similar to that of DNA sequence-based methods. As MALDI-TOF MS is well suited to the routine clinical laboratory workflow, it facilitates the identification of these 'cryptic' Aspergillus species at the routine mycology bench. The rapid establishment of enhanced filamentous fungi identification facilities will lead to a better understanding of the epidemiology and clinical importance of these emerging Aspergillus species. Based on routine MALDI-TOF MS-based identification results, we provide original insights into the key interpretation issues of a positive Aspergillus culture from a clinical sample. Which ubiquitous species that are frequently isolated from air samples are rarely involved in human invasive disease? Can both the species and the type of biological sample indicate Aspergillus carriage, colonization or infection in a patient? Highly accurate routine filamentous fungi identification is central to enhance the understanding of these previously unknown Aspergillus species, with a vital impact on further improved patient care. Copyright © 2016 European Society of Clinical Microbiology and

  17. Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method.

    LENUS (Irish Health Repository)

    Johansson, Mattias

    2012-01-01

    Genome-wide association studies (GWAS) require large sample sizes to obtain adequate statistical power, but it may be possible to increase the power by incorporating complementary data. In this study we investigated the feasibility of automatically retrieving information from the medical literature and leveraging this information in GWAS.

  18. Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways

    NARCIS (Netherlands)

    J. Deelen (Joris); H.-W. Uh; R. Monajemi (Ramin); D. van Heemst (Diana); P.E. Thijssen (Peter); S. Böhringer (Stefan); E.B. van den Akker (Erik); A.J.M. de Craen (Anton J.M.); F. Rivadeneira Ramirez (Fernando); R.G.J. Westendorp (Rudi); A.G. Uitterlinden (André); J.J. Goeman (Jelle); P.E. Slagboom (Eline); J.J. Houwing-Duistermaat (Jeanine); M. Beekman (Marian)

    2013-01-01

    textabstractIn genome-wide association studies (GWAS) of complex traits, single SNP analysis is still the most applied approach. However, the identified SNPs have small effects and provide limited biological insight. A more appropriate approach to interpret GWAS data of complex traits is to analyze

  19. A population genetic interpretation of GWAS findings for human quantitative traits

    Science.gov (United States)

    Bullaughey, Kevin; Hudson, Richard R.; Sella, Guy

    2018-01-01

    Human genome-wide association studies (GWASs) are revealing the genetic architecture of anthropomorphic and biomedical traits, i.e., the frequencies and effect sizes of variants that contribute to heritable variation in a trait. To interpret these findings, we need to understand how genetic architecture is shaped by basic population genetics processes—notably, by mutation, natural selection, and genetic drift. Because many quantitative traits are subject to stabilizing selection and because genetic variation that affects one trait often affects many others, we model the genetic architecture of a focal trait that arises under stabilizing selection in a multidimensional trait space. We solve the model for the phenotypic distribution and allelic dynamics at steady state and derive robust, closed-form solutions for summary statistics of the genetic architecture. Our results provide a simple interpretation for missing heritability and why it varies among traits. They predict that the distribution of variances contributed by loci identified in GWASs is well approximated by a simple functional form that depends on a single parameter: the expected contribution to genetic variance of a strongly selected site affecting the trait. We test this prediction against the results of GWASs for height and body mass index (BMI) and find that it fits the data well, allowing us to make inferences about the degree of pleiotropy and mutational target size for these traits. Our findings help to explain why the GWAS for height explains more of the heritable variance than the similarly sized GWAS for BMI and to predict the increase in explained heritability with study sample size. Considering the demographic history of European populations, in which these GWASs were performed, we further find that most of the associations they identified likely involve mutations that arose shortly before or during the Out-of-Africa bottleneck at sites with selection coefficients around s = 10−3. PMID

  20. Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases.

    Directory of Open Access Journals (Sweden)

    Diana Chang

    Full Text Available Many complex human diseases are highly sexually dimorphic, suggesting a potential contribution of the X chromosome to disease risk. However, the X chromosome has been neglected or incorrectly analyzed in most genome-wide association studies (GWAS. We present tailored analytical methods and software that facilitate X-wide association studies (XWAS, which we further applied to reanalyze data from 16 GWAS of different autoimmune and related diseases (AID. We associated several X-linked genes with disease risk, among which (1 ARHGEF6 is associated with Crohn's disease and replicated in a study of ulcerative colitis, another inflammatory bowel disease (IBD. Indeed, ARHGEF6 interacts with a gastric bacterium that has been implicated in IBD. (2 CENPI is associated with three different AID, which is compelling in light of known associations with AID of autosomal genes encoding centromere proteins, as well as established autosomal evidence of pleiotropy between autoimmune diseases. (3 We replicated a previous association of FOXP3, a transcription factor that regulates T-cell development and function, with vitiligo; and (4 we discovered that C1GALT1C1 exhibits sex-specific effect on disease risk in both IBDs. These and other X-linked genes that we associated with AID tend to be highly expressed in tissues related to immune response, participate in major immune pathways, and display differential gene expression between males and females. Combined, the results demonstrate the importance of the X chromosome in autoimmunity, reveal the potential of extensive XWAS, even based on existing data, and provide the tools and incentive to properly include the X chromosome in future studies.

  1. Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis

    NARCIS (Netherlands)

    Kiryluk, Krzysztof; Li, Yifu; Sanna-Cherchi, Simone; Rohanizadegan, Mersedeh; Suzuki, Hitoshi; Eitner, Frank; Snyder, Holly J.; Choi, Murim; Hou, Ping; Scolari, Francesco; Izzi, Claudia; Gigante, Maddalena; Gesualdo, Loreto; Savoldi, Silvana; Amoroso, Antonio; Cusi, Daniele; Zamboli, Pasquale; Julian, Bruce A.; Novak, Jan; Wyatt, Robert J.; Mucha, Krzysztof; Perola, Markus; Kristiansson, Kati; Viktorin, Alexander; Magnusson, Patrik K.; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Stefansson, Kari; Boland, Anne; Metzger, Marie; Thibaudin, Lise; Wanner, Christoph; Jager, Kitty J.; Goto, Shin; Maixnerova, Dita; Karnib, Hussein H.; Nagy, Judit; Panzer, Ulf; Xie, Jingyuan; Chen, Nan; Tesar, Vladimir; Narita, Ichiei; Berthoux, Francois; Floege, Jürgen; Stengel, Benedicte; Zhang, Hong; Lifton, Richard P.; Gharavi, Ali G.

    2012-01-01

    IgA nephropathy (IgAN), major cause of kidney failure worldwide, is common in Asians, moderately prevalent in Europeans, and rare in Africans. It is not known if these differences represent variation in genes, environment, or ascertainment. In a recent GWAS, we localized five IgAN susceptibility

  2. Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits.

    Science.gov (United States)

    Smith, Andrew J P; Deloukas, Panos; Munroe, Patricia B

    2018-04-13

    Over the last decade, genome-wide association studies (GWAS) have propelled the discovery of thousands of loci associated with complex diseases. The focus is now turning towards the function of these association signals, determining the causal variant(s) amongst those in strong linkage disequilibrium, and identifying their underlying mechanisms, such as long-range gene regulation. Genome-editing techniques utilising zinc-finger nucleases (ZFN), transcription activator-like effector nucleases (TALENs) and clustered regularly-interspaced short palindromic repeats with Cas9 nuclease (CRISPR-Cas9), are becoming the tools of choice to establish functionality for these variants, due to the ability to assess effects of single variants in vivo. This review will discuss examples of how these technologies have begun to aid functional analysis of GWAS loci for complex traits such as cardiovascular disease, type 2 diabetes, cancer, obesity and autoimmune disease. We focus on analysis of variants occurring within non-coding genomic regions, as these comprise the majority of GWAS variants, providing the greatest challenges to determining functionality, and compare editing strategies that provide different levels of evidence for variant functionality. The review describes molecular insights into some of these potentially causal variants, and how these may relate to the pathology of the trait, and look towards future directions for these technologies in post-GWAS analysis, such as base-editing.

  3. Standardized mortality in eating disorders--a quantitative summary of previously published and new evidence

    DEFF Research Database (Denmark)

    Nielsen, Søren; Møller-Madsen, S.; Isager, Torben

    2011-01-01

    strong evidence for an increase in SMR for anorexia nervosa (AN), whereas no firm conclusions could be drawn for bulimia nervosa (BN). Bias caused by loss to follow-up was quantified and found non-negligable in some samples (possible increase in SMR from 25% to 240%). We did not find a significant effect...

  4. Standardized mortality in eating disorders--a quantitative summary of previously published and new evidence

    DEFF Research Database (Denmark)

    Nielsen, Søren; Møller-Madsen, S.; Isager, Torben

    1998-01-01

    strong evidence for an increase in SMR for anorexia nervosa (AN), whereas no firm conclusions could be drawn for bulimia nervosa (BN). Bias caused by loss to follow-up was quantified and found non-negligable in some samples (possible increase in SMR from 25% to 240%). We did not find a significant effect...

  5. Leiomyosarcoma of the Prostate: Case Report and Review of 54 Previously Published Cases

    Directory of Open Access Journals (Sweden)

    Gerasimos P. Vandoros

    2008-01-01

    Full Text Available Prostate leiomyosarcoma is an extremely rare and highly aggressive neoplasm that accounts for less than 0.1% of primary prostate malignancies. We present a patient with primary leiomyosarcoma of the prostate and review 54 cases reported in the literature to discuss the clinical, diagnostic and therapeutic aspects of this uncommon tumor. Median survival was estimated at 17 months (95% C.I. 20.7–43.7 months and the 1-, 3-, and 5-year actuarial survival rates were 68%, 34%, and 26%, respectively. The only factors predictive of long-term survival were negative surgical margins and absence of metastatic disease at presentation. A multidisciplinary approach is necessary for appropriate management of this dire entity.

  6. AprioriGWAS, a new pattern mining strategy for detecting genetic variants associated with disease through interaction effects.

    Science.gov (United States)

    Zhang, Qingrun; Long, Quan; Ott, Jurg

    2014-06-01

    Identifying gene-gene interaction is a hot topic in genome wide association studies. Two fundamental challenges are: (1) how to smartly identify combinations of variants that may be associated with the trait from astronomical number of all possible combinations; and (2) how to test epistatic interaction when all potential combinations are available. We developed AprioriGWAS, which brings two innovations. (1) Based on Apriori, a successful method in field of Frequent Itemset Mining (FIM) in which a pattern growth strategy is leveraged to effectively and accurately reduce search space, AprioriGWAS can efficiently identify genetically associated genotype patterns. (2) To test the hypotheses of epistasis, we adopt a new conditional permutation procedure to obtain reliable statistical inference of Pearson's chi-square test for the [Formula: see text] contingency table generated by associated variants. By applying AprioriGWAS to age-related macular degeneration (AMD) data, we found that: (1) angiopoietin 1 (ANGPT1) and four retinal genes interact with Complement Factor H (CFH). (2) GO term "glycosaminoglycan biosynthetic process" was enriched in AMD interacting genes. The epistatic interactions newly found by AprioriGWAS on AMD data are likely true interactions, since genes interacting with CFH are retinal genes, and GO term enrichment also verified that interaction between glycosaminoglycans (GAGs) and CFH plays an important role in disease pathology of AMD. By applying AprioriGWAS on Bipolar disorder in WTCCC data, we found variants without marginal effect show significant interactions. For example, multiple-SNP genotype patterns inside gene GABRB2 and GRIA1 (AMPA subunit 1 receptor gene). AMPARs are found in many parts of the brain and are the most commonly found receptor in the nervous system. The GABRB2 mediates the fastest inhibitory synaptic transmission in the central nervous system. GRIA1 and GABRB2 are relevant to mental disorders supported by multiple

  7. Integrating eQTL data with GWAS summary statistics in pathway-based analysis with application to schizophrenia.

    Science.gov (United States)

    Wu, Chong; Pan, Wei

    2018-04-01

    Many genetic variants affect complex traits through gene expression, which can be exploited to boost statistical power and enhance interpretation in genome-wide association studies (GWASs) as demonstrated by the transcriptome-wide association study (TWAS) approach. Furthermore, due to polygenic inheritance, a complex trait is often affected by multiple genes with similar functions as annotated in gene pathways. Here, we extend TWAS from gene-based analysis to pathway-based analysis: we integrate public pathway collections, expression quantitative trait locus (eQTL) data and GWAS summary association statistics (or GWAS individual-level data) to identify gene pathways associated with complex traits. The basic idea is to weight the SNPs of the genes in a pathway based on their estimated cis-effects on gene expression, then adaptively test for association of the pathway with a GWAS trait by effectively aggregating possibly weak association signals across the genes in the pathway. The P values can be calculated analytically and thus fast. We applied our proposed test with the KEGG and GO pathways to two schizophrenia (SCZ) GWAS summary association data sets, denoted by SCZ1 and SCZ2 with about 20,000 and 150,000 subjects, respectively. Most of the significant pathways identified by analyzing the SCZ1 data were reproduced by the SCZ2 data. Importantly, we identified 15 novel pathways associated with SCZ, such as GABA receptor complex (GO:1902710), which could not be uncovered by the standard single SNP-based analysis or gene-based TWAS. The newly identified pathways may help us gain insights into the biological mechanism underlying SCZ. Our results showcase the power of incorporating gene expression information and gene functional annotations into pathway-based association testing for GWAS. © 2018 WILEY PERIODICALS, INC.

  8. GWAS of agronomic traits in soybean collection included in breeding pool in Kazakhstan.

    Science.gov (United States)

    Zatybekov, Alibek; Abugalieva, Saule; Didorenko, Svetlana; Gerasimova, Yelena; Sidorik, Ivan; Anuarbek, Shynar; Turuspekov, Yerlan

    2017-11-14

    In recent years soybean is becoming one of the most important oilseed crops in Kazakhstan. Only within the last ten years (2006-2016), the area under soybean is expanded from 45 thousand hectares (ha) in 2006 to 120 thousand ha in 2016. The general trend of soybean expansion is from south-eastern to eastern and northern regions of the country, where average temperatures are lower and growing seasons are shorter. These new soybean growing territories were poorly examined in terms of general effects on productivity level among the diverse sample of soybean accessions. In this study, phenotypic data were collected in three separate regions of Kazakhstan and entire soybean sample was genotyped for identification of marker-trait associations (MTA). In this study, the collection of 113 accessions representing five different regions of the World was planted in 2015-2016 in northern, eastern, and south-eastern regions of Kazakhstan. It was observed that North American accessions showed the highest yield in four out of six trials especially in Northern Kazakhstan in both years. The entire sample was genotyped with 6 K SNP Illumina array. 4442 SNPs found to be polymorphic and were used for whole genome genotyping purposes. Obtained SNP markers data and field data were used for GWAS (genome-wide association study). 30 SNPs appear to be very significant in 42 MTAs in six studied environments. The study confirms the efficiency of GWAS for the identification of molecular markers which tag important agronomic traits. Overall thirty SNP markers associated with time to flowering and maturation, plant height, number of fertile nodes, seeds per plant and yield were identified. Physical locations of 32 identified out of 42 total MTAs coincide well with positions of known analogous QTLs. This result indicates importance of revealed MTAs for soybean growing regions in Kazakhstan. Obtained results would serve as required prerequisite for forming and realization of specific breeding

  9. GWAS in a box: statistical and visual analytics of structured associations via GenAMap.

    Directory of Open Access Journals (Sweden)

    Eric P Xing

    Full Text Available With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1 automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression data, and clinical or other macroscopic traits, and 2 provides new visualization tools specifically designed to aid in the exploration of association mapping results. Algorithmically, GenAMap is based on a new paradigm for GWAS and PheWAS analysis, termed structured association mapping, which leverages various structures in the omic data. We demonstrate the function of GenAMap via a case study of the Brem and Kruglyak yeast dataset, and then apply it on a comprehensive eQTL analysis of the NIH heterogeneous stock mice dataset and report some interesting findings. GenAMap is available from http://sailing.cs.cmu.edu/genamap.

  10. Genome-wide prediction models that incorporate de novo GWAS are a powerful new tool for tropical rice improvement

    Science.gov (United States)

    Spindel, J E; Begum, H; Akdemir, D; Collard, B; Redoña, E; Jannink, J-L; McCouch, S

    2016-01-01

    To address the multiple challenges to food security posed by global climate change, population growth and rising incomes, plant breeders are developing new crop varieties that can enhance both agricultural productivity and environmental sustainability. Current breeding practices, however, are unable to keep pace with demand. Genomic selection (GS) is a new technique that helps accelerate the rate of genetic gain in breeding by using whole-genome data to predict the breeding value of offspring. Here, we describe a new GS model that combines RR-BLUP with markers fit as fixed effects selected from the results of a genome-wide-association study (GWAS) on the RR-BLUP training data. We term this model GS + de novo GWAS. In a breeding population of tropical rice, GS + de novo GWAS outperformed six other models for a variety of traits and in multiple environments. On the basis of these results, we propose an extended, two-part breeding design that can be used to efficiently integrate novel variation into elite breeding populations, thus expanding genetic diversity and enhancing the potential for sustainable productivity gains. PMID:26860200

  11. Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants.

    Science.gov (United States)

    Markunas, Christina A; Johnson, Eric O; Hancock, Dana B

    2017-07-01

    Genome-wide association study (GWAS)-identified variants are enriched for functional elements. However, we have limited knowledge of how functional enrichment may differ by disease/trait and tissue type. We tested a broad set of eight functional elements for enrichment among GWAS-identified SNPs (p Enrichment analyses were conducted using logistic regression, with Bonferroni correction. Overall, a significant enrichment was observed for all functional elements, except sequence motifs. Missense SNPs showed the strongest magnitude of enrichment. eQTLs were the only functional element significantly enriched across all diseases/traits. Magnitudes of enrichment were generally similar across diseases/traits, where enrichment was statistically significant. Blood vs. brain tissue effects on enrichment were dependent on disease/trait and functional element (e.g., cardiovascular disease: eQTLs P TissueDifference  = 1.28 × 10 -6 vs. enhancers P TissueDifference  = 0.94). Identifying disease/trait-relevant functional elements and tissue types could provide new insight into the underlying biology, by guiding a priori GWAS analyses (e.g., brain enhancer elements for psychiatric disease) or facilitating post hoc interpretation.

  12. Choosing the Right Desktop Publisher.

    Science.gov (United States)

    Eiser, Leslie

    1988-01-01

    Investigates the many different desktop publishing packages available today. Lists the steps to desktop publishing. Suggests which package to use with specific hardware available. Compares several packages for IBM, Mac, and Apple II based systems. (MVL)

  13. EPIC: Electronic Publishing is Cheaper.

    Science.gov (United States)

    Regier, Willis G.

    Advocates of inexpensive publishing confront a widespread complaint that there is already an overproduction of scholarship that electronic publishing will make worse. The costs of electronic publishing correlate to a clutch of choices: speeds of access, breadth and depth of content, visibility, flexibility, durability, dependability, definition of…

  14. Predicting cell types and genetic variations contributing to disease by combining GWAS and epigenetic data.

    Directory of Open Access Journals (Sweden)

    Anna Gerasimova

    Full Text Available Genome-wide association studies (GWASs identify single nucleotide polymorphisms (SNPs that are enriched in individuals suffering from a given disease. Most disease-associated SNPs fall into non-coding regions, so that it is not straightforward to infer phenotype or function; moreover, many SNPs are in tight genetic linkage, so that a SNP identified as associated with a particular disease may not itself be causal, but rather signify the presence of a linked SNP that is functionally relevant to disease pathogenesis. Here, we present an analysis method that takes advantage of the recent rapid accumulation of epigenomics data to address these problems for some SNPs. Using asthma as a prototypic example; we show that non-coding disease-associated SNPs are enriched in genomic regions that function as regulators of transcription, such as enhancers and promoters. Identifying enhancers based on the presence of the histone modification marks such as H3K4me1 in different cell types, we show that the location of enhancers is highly cell-type specific. We use these findings to predict which SNPs are likely to be directly contributing to disease based on their presence in regulatory regions, and in which cell types their effect is expected to be detectable. Moreover, we can also predict which cell types contribute to a disease based on overlap of the disease-associated SNPs with the locations of enhancers present in a given cell type. Finally, we suggest that it will be possible to re-analyze GWAS studies with much higher power by limiting the SNPs considered to those in coding or regulatory regions of cell types relevant to a given disease.

  15. Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases.

    Directory of Open Access Journals (Sweden)

    Hariklia Eleftherohorinou

    2009-11-01

    Full Text Available Although the introduction of genome-wide association studies (GWAS have greatly increased the number of genes associated with common diseases, only a small proportion of the predicted genetic contribution has so far been elucidated. Studying the cumulative variation of polymorphisms in multiple genes acting in functional pathways may provide a complementary approach to the more common single SNP association approach in understanding genetic determinants of common disease. We developed a novel pathway-based method to assess the combined contribution of multiple genetic variants acting within canonical biological pathways and applied it to data from 14,000 UK individuals with 7 common diseases. We tested inflammatory pathways for association with Crohn's disease (CD, rheumatoid arthritis (RA and type 1 diabetes (T1D with 4 non-inflammatory diseases as controls. Using a variable selection algorithm, we identified variants responsible for the pathway association and evaluated their use for disease prediction using a 10 fold cross-validation framework in order to calculate out-of-sample area under the Receiver Operating Curve (AUC. The generalisability of these predictive models was tested on an independent birth cohort from Northern Finland. Multiple canonical inflammatory pathways showed highly significant associations (p 10(-3-10(-20 with CD, T1D and RA. Variable selection identified on average a set of 205 SNPs (149 genes for T1D, 350 SNPs (189 genes for RA and 493 SNPs (277 genes for CD. The pattern of polymorphisms at these SNPS were found to be highly predictive of T1D (91% AUC and RA (85% AUC, and weakly predictive of CD (60% AUC. The predictive ability of the T1D model (without any parameter refitting had good predictive ability (79% AUC in the Finnish cohort. Our analysis suggests that genetic contribution to common inflammatory diseases operates through multiple genes interacting in functional pathways.

  16. International Marketing Developing Publishing Business

    Directory of Open Access Journals (Sweden)

    Eugenijus Chlivickas

    2015-05-01

    Full Text Available Lithuanian integration in the financial Eurozone and Lithuanian publishing business development in the European Union and outside it, becomes an important problem requiring a solution. Promoting the dissemination of printed books and literacy in Lithuania and beyond, to properly introduce the achievements of Lithuania in foreign countries, it is important to ensure Lithuanian letter, educational and scientific book publishing development. The article examines the characteristics of the international marketing publishing, the world and Lithuanian state publishing houses on the basis of foreign and Lithuanian scientists theoretical insights about the instruments of international marketing opportunities, developing proposals for publishing business integration of new economic conditions.

  17. What comes first? Publishing business or publishing studies?

    Directory of Open Access Journals (Sweden)

    Josipa Selthofer

    2015-07-01

    Full Text Available The aim of this paper is to analyze and compare publishing studies, their programmes at the undergraduate and graduate levels and scholars involved in the teaching of publishing courses at the top universities around the world and in Croatia. Since traditional publishing business is rapidly changing, new skills and new jobs are involved in it. The main research question is: Can modern publishing studies produce a modern publisher? Or, is it the other way around? The hypothesis of the paper is that scholars involved in the teaching of publishing courses at the top universities around the world have a background in publishing business. So, can they prepare their students for the future and can their students gain competencies they need to compete in a confusing world of digital authors and electronic books? The research methods used were content analysis and comparison. Research sample included 36 university publishing programmes at the undergraduate and graduate level worldwide (24 MA, 12 BA. The research sample was limited mainly to the English-speaking countries. In most non-English-speaking countries, it was difficult to analyse the programme curriculum in the native language because the programme and course description did not exit. In the data gathering phase, a customized web application was used for content analysis. The application has three main sections: a list of websites to evaluate, a visual representation of the uploaded website and a list of characteristics grouped by categories for quantifying data. About twenty years ago, publishing was not considered a separate scientific branch in Croatia. Publishing studies are therefore a new phenomenon to both scholars and publishers in Croatia. To create a new, ideal publishing course, can we simply copy global trends or is it better to create something of our own?

  18. THE QUALITY CRITERIA AND SELF-PUBLISHING IN SCIENTIFIC PUBLISHING

    Directory of Open Access Journals (Sweden)

    Almudena Mangas-Vega

    2015-11-01

    Full Text Available Self-publishing is a growing phenomenon in recent years. It is a process that goes beyond a simple change of leader in the publication, since it involves also a change of role of agents that were consolidated over time. A self-published work does not have to mean lack of quality, so it is important to define parameters and indicators that help its evaluation and identify who has the responsibility of those criteria. The article shows these aspects from the possibilities for cross-platform publishing and concludes with an analysis of the aspects that can be considered in assessing the quality of self-publishing.

  19. Thomas Jefferson, Page Design, and Desktop Publishing.

    Science.gov (United States)

    Hartley, James

    1991-01-01

    Discussion of page design for desktop publishing focuses on the importance of functional issues as opposed to aesthetic issues, and criticizes a previous article that stressed aesthetic issues. Topics discussed include balance, consistency in text structure, and how differences in layout affect the clarity of "The Declaration of…

  20. What Desktop Publishing Can Teach Professional Writing Students about Publishing.

    Science.gov (United States)

    Dobberstein, Michael

    1992-01-01

    Points out that desktop publishing is a metatechnology that allows professional writing students access to the production phase of publishing, giving students hands-on practice in preparing text for printing and in learning how that preparation affects the visual meaning of documents. (SR)

  1. E-publishing and multimodalities

    OpenAIRE

    Yngve Nordkvelle

    2008-01-01

    In the literature of e-publishing there has been a consistent call from the advent of e-publishing on, until now, to explore new ways of expressing ideas through the new media. It has been claimed that the Internet opens an alley of possibilities and opportunites for publishing that will change the ways of publishing once and for all. In the area of publication of e-journals, however, the call for changes has received very modest responds.The thing is, it appears, that the conventional paper ...

  2. Desktop Publishing in the University.

    Science.gov (United States)

    Burstyn, Joan N., Ed.

    Highlighting changes in the work of people within the university, this book presents nine essays that examine the effects of desktop publishing and electronic publishing on professors and students, librarians, and those who work at university presses and in publication departments. Essays in the book are: (1) "Introduction: The Promise of Desktop…

  3. The Decision to Publish Electronically.

    Science.gov (United States)

    Craig, Gary

    1983-01-01

    Argues that decision to publish a given intellectual product "electronically" is a business decision based on customer needs, available format alternatives, current business climate, and variety of already existing factors. Publishers are most influenced by customers' acceptance of new products and their own role as intermediaries in…

  4. Publishing in Open Access Journals

    International Development Research Centre (IDRC) Digital Library (Canada)

    mbrunet

    00054.x). • An ISSN (International Standard Serial Number e.g. 1234-5678) has ... Publisher uses direct and unsolicited marketing (i.e., spamming) or advertising is obtrusive (to publish articles or serve on editorial board). • No information is ...

  5. Comics, Copyright and Academic Publishing

    Directory of Open Access Journals (Sweden)

    Ronan Deazley

    2014-05-01

    Full Text Available This article considers the extent to which UK-based academics can rely upon the copyright regime to reproduce extracts and excerpts from published comics and graphic novels without having to ask the copyright owner of those works for permission. In doing so, it invites readers to engage with a broader debate about the nature, demands and process of academic publishing.

  6. Electronic Publishing: Baseline Data 1993.

    Science.gov (United States)

    Brock, Laurie

    1993-01-01

    Provides highlights of a report describing research conducted to analyze and compare publishers' and developers' current and planned involvement in electronic publishing. Topics include acceptance of new media, licensing issues, costs and other perceived obstacles, and CD-ROMs platforms. (EAM)

  7. The Evolution of Electronic Publishing.

    Science.gov (United States)

    Lancaster, F. W.

    1995-01-01

    Discusses the evolution of electronic publishing from the early 1960s when computers were used merely to produce conventional printed products to the present move toward networked scholarly publishing. Highlights include library development, periodicals on the Internet, online journals versus paper journals, problems, and the future of…

  8. Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

    Directory of Open Access Journals (Sweden)

    Jonathan D Mosley

    Full Text Available A single mutation can alter cellular and global homeostatic mechanisms and give rise to multiple clinical diseases. We hypothesized that these disease mechanisms could be identified using low minor allele frequency (MAF<0.1 non-synonymous SNPs (nsSNPs associated with "mechanistic phenotypes", comprised of collections of related diagnoses. We studied two mechanistic phenotypes: (1 thrombosis, evaluated in a population of 1,655 African Americans; and (2 four groupings of cancer diagnoses, evaluated in 3,009 white European Americans. We tested associations between nsSNPs represented on GWAS platforms and mechanistic phenotypes ascertained from electronic medical records (EMRs, and sought enrichment in functional ontologies across the top-ranked associations. We used a two-step analytic approach whereby nsSNPs were first sorted by the strength of their association with a phenotype. We tested associations using two reverse genetic models and standard additive and recessive models. In the second step, we employed a hypothesis-free ontological enrichment analysis using the sorted nsSNPs to identify functional mechanisms underlying the diagnoses comprising the mechanistic phenotypes. The thrombosis phenotype was solely associated with ontologies related to blood coagulation (Fisher's p = 0.0001, FDR p = 0.03, driven by the F5, P2RY12 and F2RL2 genes. For the cancer phenotypes, the reverse genetics models were enriched in DNA repair functions (p = 2×10-5, FDR p = 0.03 (POLG/FANCI, SLX4/FANCP, XRCC1, BRCA1, FANCA, CHD1L while the additive model showed enrichment related to chromatid segregation (p = 4×10-6, FDR p = 0.005 (KIF25, PINX1. We were able to replicate nsSNP associations for POLG/FANCI, BRCA1, FANCA and CHD1L in independent data sets. Mechanism-oriented phenotyping using collections of EMR-derived diagnoses can elucidate fundamental disease mechanisms.

  9. Evaluation of novel candidate variations and their interactions related to bipolar disorders: Analysis of GWAS data

    Directory of Open Access Journals (Sweden)

    Acikel C

    2016-11-01

    , have prioritized similar SNP profiles as predictors of bipolar disorders, in contrast to MDR, which has found different SNPs through analysis of two-way and three-way interactions. The reduced number of associated SNPs discovered by MDR, without loss in the classification performance, would facilitate validation studies and decision support models, and would reduce the cost to develop predictive and diagnostic tests. Nevertheless, we need to emphasize that translation of genomic models to the clinical setting requires models with higher classification performance. Keywords: Bipolar disorders, GWAS, MDR, Data Mining, SNP, Decision Support

  10. The handbook of journal publishing

    CERN Document Server

    Morris, Sally; LaFrenier, Douglas; Reich, Margaret

    2013-01-01

    The Handbook of Journal Publishing is a comprehensive reference work written by experienced professionals, covering all aspects of journal publishing, both online and in print. Journals are crucial to scholarly communication, but changes in recent years in the way journals are produced, financed, and used make this an especially turbulent and challenging time for journal publishers - and for authors, readers, and librarians. The Handbook offers a thorough guide to the journal publishing process, from editing and production through marketing, sales, and fulfilment, with chapters on management, finances, metrics, copyright, and ethical issues. It provides a wealth of practical tools, including checklists, sample documents, worked examples, alternative scenarios, and extensive lists of resources, which readers can use in their day-to-day work. Between them, the authors have been involved in every aspect of journal publishing over several decades and bring to the text their experience working for a wide range of ...

  11. Developments in Publishing: The Potential of Digital Publishing

    OpenAIRE

    X. Tian

    2007-01-01

    This research aims to identify issues associated with the impact of digital technology on the publishing industry with a specific focus on aspects of the sustainability of existing business models in Australia. Based on the case studies, interviews and Australian-wide online surveys, the research presents a review of the traditional business models in book publishing for investigating their effectiveness in a digital environment. It speculates on how and what should be considered for construc...

  12. How libraries use publisher metadata

    Directory of Open Access Journals (Sweden)

    Steve Shadle

    2013-11-01

    Full Text Available With the proliferation of electronic publishing, libraries are increasingly relying on publisher-supplied metadata to meet user needs for discovery in library systems. However, many publisher/content provider staff creating metadata are unaware of the end-user environment and how libraries use their metadata. This article provides an overview of the three primary discovery systems that are used by academic libraries, with examples illustrating how publisher-supplied metadata directly feeds into these systems and is used to support end-user discovery and access. Commonly seen metadata problems are discussed, with recommendations suggested. Based on a series of presentations given in Autumn 2012 to the staff of a large publisher, this article uses the University of Washington Libraries systems and services as illustrative examples. Judging by the feedback received from these presentations, publishers (specifically staff not familiar with the big picture of metadata standards work would benefit from a better understanding of the systems and services libraries provide using the data that is created and managed by publishers.

  13. GWAS for plant growth stages and yield components in spring wheat (Triticum aestivum L.) harvested in three regions of Kazakhstan.

    Science.gov (United States)

    Turuspekov, Yerlan; Baibulatova, Aida; Yermekbayev, Kanat; Tokhetova, Laura; Chudinov, Vladimir; Sereda, Grigoriy; Ganal, Martin; Griffiths, Simon; Abugalieva, Saule

    2017-11-14

    Spring wheat is the largest agricultural crop grown in Kazakhstan with an annual sowing area of 12 million hectares in 2016. Annually, the country harvests around 15 million tons of high quality grain. Despite environmental stress factors it is predicted that the use of new technologies may lead to increases in productivity from current levels of 1.5 to up to 3 tons per hectare. One way of improving wheat productivity is by the application of new genomic oriented approaches in plant breeding projects. Genome wide association studies (GWAS) are emerging as powerful tools for the understanding of the inheritance of complex traits via utilization of high throughput genotyping technologies and phenotypic assessments of plant collections. In this study, phenotyping and genotyping data on 194 spring wheat accessions from Kazakhstan, Russia, Europe, and CIMMYT were assessed for the identification of marker-trait associations (MTA) of agronomic traits by using GWAS. Field trials in Northern, Central and Southern regions of Kazakhstan using 194 spring wheat accessions revealed strong correlations of yield with booting date, plant height, biomass, number of spikes per plant, and number of kernels per spike. The accessions from Europe and CIMMYT showed high breeding potential for Southern and Central regions of the country in comparison with the performance of the local varieties. The GGE biplot method, using average yield per plant, suggested a clear separation of accessions into their three breeding origins in relationship to the three environments in which they were evaluated. The genetic variation in the three groups of accessions was further studied using 3245 polymorphic SNP (single nucleotide polymorphism) markers. The application of Principal Coordinate analysis clearly grouped the 194 accessions into three clades according to their breeding origins. GWAS on data from nine field trials allowed the identification of 114 MTAs for 12 different agronomic traits. Field

  14. GWAS signals across the HLA regions: revealing a clue for common etiology underlying infectious tumors and other immunity diseases

    Institute of Scientific and Technical Information of China (English)

    Yin Yao Shugart; Ying Wang; Wei-Hua Jia; Yi-Xin Zeng

    2011-01-01

    Increasing evidence suggests that multiple genes in the human leukocyte antigen (HLA) regions play an important role in development of cancers and immunity disorders. However, the biological mechanisms of the HLA associations are not well understood. We recently conducted a survey of all genome-wide association studies (GWAS) with significant findings in the HLA regions and concluded that diseases such as cancer and immune disorders are more likely to be associated with genetic variants located in the HLA regions than other diseases. This finding is suggestive for testing a hypothesis of a common etiology of infectious tumors and other immunity diseases.

  15. From protocol to published report

    DEFF Research Database (Denmark)

    Berendt, Louise; Callréus, Torbjörn; Petersen, Lene Grejs

    2016-01-01

    and published reports of academic clinical drug trials. METHODS: A comparison was made between study protocols and their corresponding published reports. We assessed the overall consistency, which was defined as the absence of discrepancy regarding study type (categorized as either exploratory or confirmatory...... in 1999, 2001, and 2003, 95 of which fulfilled the eligibility criteria and had at least one corresponding published report reporting data on trial subjects. Overall consistency was observed in 39% of the trials (95% CI: 29 to 49%). Randomized controlled trials (RCTs) constituted 72% (95% CI: 63 to 81......%) of the sample, and 87% (95% CI: 80 to 94%) of the trials were hospital based. CONCLUSIONS: Overall consistency between protocols and their corresponding published reports was low. Motivators for the inconsistencies are unknown but do not seem restricted to economic incentives....

  16. Desktop publishing com o scribus

    OpenAIRE

    Silva, Fabrício Riff; Uchôa, Kátia Cilene Amaral

    2015-01-01

    Este artigo apresenta um breve tutorial sobre Desktop Publishing, com ênfase no software livre Scribus, através da criação de um exemplo prático que explora algumas de suas principais funcionalidades.

  17. Publisher Correction: On our bookshelf

    Science.gov (United States)

    Karouzos, Marios

    2018-03-01

    In the version of this Books and Arts originally published, the book title Spectroscopy for Amateur Astronomy was incorrect; it should have read Spectroscopy for Amateur Astronomers. This has now been corrected.

  18. Published journal article with data

    Data.gov (United States)

    U.S. Environmental Protection Agency — published journal article. This dataset is associated with the following publication: Schumacher, B., J. Zimmerman, J. Elliot, and G. Swanson. The Effect of...

  19. Free Publishing Culture. Sustainable Models?

    Directory of Open Access Journals (Sweden)

    Silvia Nanclares Escudero

    2013-03-01

    Full Text Available As a result of the collective research on the possibilities for publishing production and distribution offered nowadays by the Free Culture scenario, we present here a mapping of symptoms in order to propose a transitory diagnostic of the question: Is it possible to generate an economically sustainable publishing model based on the uses and customs generated and provided by Free Culture? Data, intuitions, experiences and ideas attempt to back up our affirmative answer.

  20. THE TYPES OF PUBLISHING SLOGANS

    Directory of Open Access Journals (Sweden)

    Ryzhov Konstantin Germanovich

    2015-03-01

    Full Text Available The author of the article focuses his attention on publishing slogans which are posted on 100 present-day Russian publishing houses' official websites and have not yet been studied in the special literature. The author has developed his own classification of publishing slogans based on the results of analysis and considering the current scientific views on the classification of slogans. The examined items are classified into autonomous and text-dependent according to interrelationship with an advertising text; marketable, corporative and mixed according to a presentation subject; rational, emotional and complex depending on the method of influence upon a recipient; slogan-presentation, slogan-assurance, slogan-identifier, slogan-appraisal, slogan-appeal depending on the communicative strategy; slogans consisting of one sentence and of two or more sentences; Russian and foreign ones. The analysis of the slogans of all kinds presented in the actual material allowed the author to determine the dominant features of the Russian publishing slogan which is an autonomous sentence in relation to the advertising text. In spite of that, the slogan shows the publishing output, influences the recipient emotionally, actualizes the communicative strategy of publishing house presentation of its distinguishing features, gives assurance to the target audience and distinguishes the advertised subject among competitors.

  1. The Community Publishing Project: assisting writers to self-publish ...

    African Journals Online (AJOL)

    This article examines the need for a small project such as the Community Publishing Project in South Africa and explores its aims. The method of involving writers and community groups in the publication process is described and two completed projects are evaluated. Lessons learnt by the Centre for the Book in managing ...

  2. Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.

    Directory of Open Access Journals (Sweden)

    Sara Lindstrom

    2011-02-01

    Full Text Available Genome-wide association studies (GWAS have identified multiple single nucleotide polymorphisms (SNPs associated with prostate cancer risk. However, whether these associations can be consistently replicated, vary with disease aggressiveness (tumor stage and grade and/or interact with non-genetic potential risk factors or other SNPs is unknown. We therefore genotyped 39 SNPs from regions identified by several prostate cancer GWAS in 10,501 prostate cancer cases and 10,831 controls from the NCI Breast and Prostate Cancer Cohort Consortium (BPC3. We replicated 36 out of 39 SNPs (P-values ranging from 0.01 to 10⁻²⁸. Two SNPs located near KLK3 associated with PSA levels showed differential association with Gleason grade (rs2735839, P = 0.0001 and rs266849, P = 0.0004; case-only test, where the alleles associated with decreasing PSA levels were inversely associated with low-grade (as defined by Gleason grade < 8 tumors but positively associated with high-grade tumors. No other SNP showed differential associations according to disease stage or grade. We observed no effect modification by SNP for association with age at diagnosis, family history of prostate cancer, diabetes, BMI, height, smoking or alcohol intake. Moreover, we found no evidence of pair-wise SNP-SNP interactions. While these SNPs represent new independent risk factors for prostate cancer, we saw little evidence for effect modification by other SNPs or by the environmental factors examined.

  3. Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets

    Directory of Open Access Journals (Sweden)

    Max Lam

    2017-11-01

    Full Text Available Here, we present a large (n = 107,207 genome-wide association study (GWAS of general cognitive ability (“g”, further enhanced by combining results with a large-scale GWAS of educational attainment. We identified 70 independent genomic loci associated with general cognitive ability. Results showed significant enrichment for genes causing Mendelian disorders with an intellectual disability phenotype. Competitive pathway analysis implicated the biological processes of neurogenesis and synaptic regulation, as well as the gene targets of two pharmacologic agents: cinnarizine, a T-type calcium channel blocker, and LY97241, a potassium channel inhibitor. Transcriptome-wide and epigenome-wide analysis revealed that the implicated loci were enriched for genes expressed across all brain regions (most strongly in the cerebellum. Enrichment was exclusive to genes expressed in neurons but not oligodendrocytes or astrocytes. Finally, we report genetic correlations between cognitive ability and disparate phenotypes including psychiatric disorders, several autoimmune disorders, longevity, and maternal age at first birth.

  4. Web publishing today and tomorrow

    CERN Document Server

    Lie, Hakon W

    1999-01-01

    The three lectures will give participants the grand tour of the Web as we know it today, as well as peeks into the past and the future. Many three-letter acronyms will be expanded, and an overview will be provided to see how the various specifications work together. Web publishing is the common theme throughout the lectures and in the second lecture, special emphasis will be given to data formats for publishing, including HTML, XML, MathML and SMIL. In the last lectures, automatic document manipulation and presentation will be discussed, including CSS, DOM and XTL.

  5. Comment on 'Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets' by Lam et al.

    Science.gov (United States)

    Hill, W David

    2018-04-01

    Intelligence and educational attainment are strongly genetically correlated. This relationship can be exploited by Multi-Trait Analysis of GWAS (MTAG) to add power to Genome-wide Association Studies (GWAS) of intelligence. MTAG allows the user to meta-analyze GWASs of different phenotypes, based on their genetic correlations, to identify association's specific to the trait of choice. An MTAG analysis using GWAS data sets on intelligence and education was conducted by Lam et al. (2017). Lam et al. (2017) reported 70 loci that they described as 'trait specific' to intelligence. This article examines whether the analysis conducted by Lam et al. (2017) has resulted in genetic information about a phenotype that is more similar to education than intelligence.

  6. A Course in Desktop Publishing.

    Science.gov (United States)

    Somerick, Nancy M.

    1992-01-01

    Describes "Promotional Publications," a required course for public relations majors, which teaches the basics of desktop publishing. Outlines how the course covers the preparation of publications used as communication tools in public relations, advertising, and organizations, with an emphasis upon design, layout, and technology. (MM)

  7. Improving Published Descriptions of Germplasm.

    Science.gov (United States)

    Published descriptions of new germplasm, such as in the Journal of Plant Registrations (JPR) and, prior to mid-2007, in Crop Science, are important vehicles for allowing researchers and other interested parties to learn about such germplasm and the methods used to generate them. Launched in 2007, JP...

  8. Publishing in Open Access Journals

    International Development Research Centre (IDRC) Digital Library (Canada)

    mbrunet

    While most open access journals are peer‐reviewed and high quality, there are a number of ... Publisher has a negative reputation (e.g., documented examples in Chronicle of Higher Education, ... A key part of Canada's aid program, IDRC supports research in developing countries to promote growth and development.

  9. FTP: Full-Text Publishing?

    Science.gov (United States)

    Jul, Erik

    1992-01-01

    Describes the use of file transfer protocol (FTP) on the INTERNET computer network and considers its use as an electronic publishing system. The differing electronic formats of text files are discussed; the preparation and access of documents are described; and problems are addressed, including a lack of consistency. (LRW)

  10. Library Networks and Electronic Publishing.

    Science.gov (United States)

    Olvey, Lee D.

    1995-01-01

    Provides a description of present and proposed plans and strategies of OCLC (Online Computer Library Center) and their relationship to electronic publishing. FirstSearch (end-user access to secondary information), GUIDON (electronic journals online) and FastDoc (document delivery) are emphasized. (JKP)

  11. Association between the European GWAS-identified susceptibility locus at chromosome 4p16 and the risk of atrial septal defect: a case-control study in Southwest China and a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Li Zhao

    Full Text Available Atrial septal defect (ASD is the third most frequent type of congenital heart anomaly, featuring shunting of blood between the two atria. Gene-environment interaction remains to be an acknowledged cause for ASD occurrence. A recent European genome-wide association study (GWAS of congenital heart disease (CHD identified 3 susceptibility SNPs at chromosome 4p16 associated with ASD: rs870142, rs16835979 and rs6824295. A Chinese-GWAS of CHD conducted in the corresponding period did not reveal the 3 susceptibility SNPs, but reported 2 different risk SNPs: rs2474937 and rs1531070. Therefore, we aimed to investigate the associations between the 3 European GWAS-identified susceptibility SNPs and ASD risk in the Han population in southwest China. Additionally, to increase the robustness of our current analysis, we conducted a meta-analysis combining published studies and our current case-control study. We performed association, linkage disequilibrium, and haplotype analysis among the 3 SNPs in 190 ASD cases and 225 age-, sex-, and ethnicity-matched healthy controls. Genotype and allele frequencies among the 3 SNPs showed statistically significant differences between the cases and controls. Our study found that individuals carrying the allele T of rs870142, the allele A of rs16835979, and the allele T of rs6824295 had a respective 50.1% (odds ratio (OR = 1.501, 95% confidence interval (CI = 1.122-2.009, PFDR-BH = 0.018, 48.5% (OR = 1.485, 95%CI = 1.109-1.987, PFDR-BH = 0.012, and 38.6% (OR = 1.386, 95%CI = 1.042-1.844, PFDR-BH = 0.025 increased risk to develop ASD than wild-type allele carriers in our study cohort. In the haplotype analysis, we identified a disease-risk haplotype (TAT (OR = 1.540, 95%CI = 1.030-2.380, PFDR-BH = 0.016. Our meta-analysis also showed that the investigated SNP was associated with ASD risk (combined OR (95%CI = 1.35 (1.24-1.46, P < 0.00001. Our study provides compelling evidence to motivate better understanding of the etiology

  12. Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk

    DEFF Research Database (Denmark)

    Kar, Siddhartha P; Tyrer, Jonathan P; Li, Qiyuan

    2015-01-01

    BACKGROUND: Genome-wide association studies (GWAS) have so far reported 12 loci associated with serous epithelial ovarian cancer (EOC) risk. We hypothesized that some of these loci function through nearby transcription factor (TF) genes and that putative target genes of these TFs as identified...... in the unified microarray dataset of 489 serous EOC tumors from The Cancer Genome Atlas. Genes represented in this dataset were subsequently ranked using a gene-level test based on results for germline SNPs from a serous EOC GWAS meta-analysis (2,196 cases/4,396 controls). RESULTS: Gene set enrichment analysis...

  13. Critical appraisal of published literature

    Science.gov (United States)

    Umesh, Goneppanavar; Karippacheril, John George; Magazine, Rahul

    2016-01-01

    With a large output of medical literature coming out every year, it is impossible for readers to read every article. Critical appraisal of scientific literature is an important skill to be mastered not only by academic medical professionals but also by those involved in clinical practice. Before incorporating changes into the management of their patients, a thorough evaluation of the current or published literature is an important step in clinical practice. It is necessary for assessing the published literature for its scientific validity and generalizability to the specific patient community and reader's work environment. Simple steps have been provided by Consolidated Standard for Reporting Trial statements, Scottish Intercollegiate Guidelines Network and several other resources which if implemented may help the reader to avoid reading flawed literature and prevent the incorporation of biased or untrustworthy information into our practice. PMID:27729695

  14. Critical appraisal of published literature

    Directory of Open Access Journals (Sweden)

    Goneppanavar Umesh

    2016-01-01

    Full Text Available With a large output of medical literature coming out every year, it is impossible for readers to read every article. Critical appraisal of scientific literature is an important skill to be mastered not only by academic medical professionals but also by those involved in clinical practice. Before incorporating changes into the management of their patients, a thorough evaluation of the current or published literature is an important step in clinical practice. It is necessary for assessing the published literature for its scientific validity and generalizability to the specific patient community and reader′s work environment. Simple steps have been provided by Consolidated Standard for Reporting Trial statements, Scottish Intercollegiate Guidelines Network and several other resources which if implemented may help the reader to avoid reading flawed literature and prevent the incorporation of biased or untrustworthy information into our practice.

  15. Bibliography of published papers, 1977

    International Nuclear Information System (INIS)

    1978-01-01

    Papers published by RERF (a cooperative Japan-U.S. research organization) personnel mainly in 1977 issues of journals are listed as bibliography giving the title, authors, etc. Mostly in both Japanese and English. The total of about 50 such cover areas as follows; Variety of diseases such as cancer and cardiovascular, dosimetry, genetics, pathology, radiation effects including such as diseases, and summary reports. (Mori, K.)

  16. Publisher Correction: Eternal blood vessels

    Science.gov (United States)

    Hindson, Jordan

    2018-05-01

    This article was originally published with an incorrect reference for the original article. The reference has been amended. Please see the correct reference below. Qiu, Y. et al. Microvasculature-on-a-chip for the long-term study of endothelial barrier dysfunction and microvascular obstruction in disease. Nat. Biomed. Eng. https://doi.org/10.1038/s41551-018-0224-z (2018)

  17. The Industrial Engineering publishing landscape

    OpenAIRE

    Claasen, Schalk

    2012-01-01

    Looking at the Industrial Engineering publishing landscape through the window of Google Search, an interesting panorama unfolds. The view that I took is actually just a peek and therefore my description of what I saw is not meant to be comprehensive. The African landscape is empty except for the South African Journal of Industrial Engineering (SAJIE). This is an extraordinary situation if compared to the South American continent where there are Industrial Engineering journals in at least ...

  18. Where is smoking research published?

    Science.gov (United States)

    Liguori, A.; Hughes, J. R.

    1996-01-01

    OBJECTIVE: To identify journals that have a focus on human nicotine/smoking research and to investigate the coverage of smoking in "high-impact" journals. DESIGN: The MEDLINE computer database was searched for English-language articles on human studies published in 1988-1992 using "nicotine", "smoking", "smoking cessation", "tobacco", or "tobacco use disorder" as focus descriptors. This search was supplemented with a similar search of the PSYCLIT computer database. Fifty-eight journals containing at least 20 nicotine/smoking articles over the five years were analysed for impact factor (IF; citations per article). RESULTS: Among the journals with the highest percentage of nicotine- or smoking-focused articles (that is, 9-39% of their articles were on nicotine/smoking), Addiction, American Journal of Public Health, Cancer Causes and Control, Health Psychology, and Preventive Medicine had the greatest IF (range = 1.3-2.6). Among the journals highest in impact factor (IF > 3), only American Journal of Epidemiology, American Review of Respiratory Disease, Journal of the National Cancer Institute, and Journal of the American Medical Association published more than 10 nicotine/smoking articles per year (3-5% of all articles). Of these, only Journal of the American Medical Association published a large number of nicotine/smoking articles (32 per year). CONCLUSIONS: Although smoking causes 20% of all mortality in developed countries, the topic is not adequately covered in high-impact journals. Most smoking research is published in low-impact journals. 




 PMID:8795857

  19. Bacterial Genetic Architecture of Ecological Interactions in Co-culture by GWAS-Taking Escherichia coli and Staphylococcus aureus as an Example.

    Science.gov (United States)

    He, Xiaoqing; Jin, Yi; Ye, Meixia; Chen, Nan; Zhu, Jing; Wang, Jingqi; Jiang, Libo; Wu, Rongling

    2017-01-01

    How a species responds to such a biotic environment in the community, ultimately leading to its evolution, has been a topic of intense interest to ecological evolutionary biologists. Until recently, limited knowledge was available regarding the genotypic changes that underlie phenotypic changes. Our study implemented GWAS (Genome-Wide Association Studies) to illustrate the genetic architecture of ecological interactions that take place in microbial populations. By choosing 45 such interspecific pairs of Escherichia coli and Staphylococcus aureus strains that were all genotyped throughout the entire genome, we employed Q-ROADTRIPS to analyze the association between single SNPs and microbial abundance measured at each time point for bacterial populations reared in monoculture and co-culture, respectively. We identified a large number of SNPs and indels across the genomes (35.69 G clean data of E. coli and 50.41 G of S. aureus ). We reported 66 and 111 SNPs that were associated with interaction in E. coli and S. aureus , respectively. 23 out of 66 polymorphic changes resulted in amino acid alterations.12 significant genes, such as murE, treA, argS , and relA , which were also identified in previous evolutionary studies. In S. aureus , 111 SNPs detected in coding sequences could be divided into 35 non-synonymous and 76 synonymous SNPs. Our study illustrated the potential of genome-wide association methods for studying rapidly evolving traits in bacteria. Genetic association study methods will facilitate the identification of genetic elements likely to cause phenotypes of interest and provide targets for further laboratory investigation.

  20. Genome Wide Association Studies (GWAS Identify QTL on SSC2 and SSC17 Affecting Loin Peak Shear Force in Crossbred Commercial Pigs.

    Directory of Open Access Journals (Sweden)

    Chunyan Zhang

    Full Text Available Of all the meat quality traits, tenderness is considered the most important with regard to eating quality and market value. In this study we have utilised genome wide association studies (GWAS for peak shear force (PSF of loin muscle as a measure of tenderness for 1,976 crossbred commercial pigs, genotyped for 42,721 informative SNPs using the Illumina PorcineSNP60 Beadchip. Four 1 Mb genomic regions, three on SSC2 (at 4 Mb, 5 Mb and 109 Mb and one on SSC17 (at 20 Mb, were detected which collectively explained about 15.30% and 3.07% of the total genetic and phenotypic variance for PSF respectively. Markers ASGA0008566, ASGA0008695, DRGA0003285 and ASGA0075615 in the four regions were strongly associated with the effects. Analysis of the reference genome sequence in the region with the most important SNPs for SSC2_5 identified FRMD8, SLC25A45 and LTBP3 as potential candidate genes for meat tenderness on the basis of functional annotation of these genes. The region SSC2_109 was close to a previously reported candidate gene CAST; however, the very weak LD between DRGA0003285 (the best marker representing region SSC2_109 and CAST indicated the potential for additional genes which are distinct from, or interact with, CAST to affect meat tenderness. Limited information of known genes in regions SSC2_109 and SSC17_20 restricts further analysis. Re-sequencing of these regions for informative animals may help to resolve the molecular architecture and identify new candidate genes and causative mutations affecting this trait. These findings contribute significantly to our knowledge of the genomic regions affecting pork shear force and will potentially lead to new insights into the molecular mechanisms regulating meat tenderness.

  1. Books average previous decade of economic misery.

    Science.gov (United States)

    Bentley, R Alexander; Acerbi, Alberto; Ormerod, Paul; Lampos, Vasileios

    2014-01-01

    For the 20(th) century since the Depression, we find a strong correlation between a 'literary misery index' derived from English language books and a moving average of the previous decade of the annual U.S. economic misery index, which is the sum of inflation and unemployment rates. We find a peak in the goodness of fit at 11 years for the moving average. The fit between the two misery indices holds when using different techniques to measure the literary misery index, and this fit is significantly better than other possible correlations with different emotion indices. To check the robustness of the results, we also analysed books written in German language and obtained very similar correlations with the German economic misery index. The results suggest that millions of books published every year average the authors' shared economic experiences over the past decade.

  2. Books Average Previous Decade of Economic Misery

    Science.gov (United States)

    Bentley, R. Alexander; Acerbi, Alberto; Ormerod, Paul; Lampos, Vasileios

    2014-01-01

    For the 20th century since the Depression, we find a strong correlation between a ‘literary misery index’ derived from English language books and a moving average of the previous decade of the annual U.S. economic misery index, which is the sum of inflation and unemployment rates. We find a peak in the goodness of fit at 11 years for the moving average. The fit between the two misery indices holds when using different techniques to measure the literary misery index, and this fit is significantly better than other possible correlations with different emotion indices. To check the robustness of the results, we also analysed books written in German language and obtained very similar correlations with the German economic misery index. The results suggest that millions of books published every year average the authors' shared economic experiences over the past decade. PMID:24416159

  3. Open access to scientific publishing

    Directory of Open Access Journals (Sweden)

    Janne Beate Reitan

    2016-12-01

    Full Text Available Interest in open access (OA to scientific publications is steadily increasing, both in Norway and internationally. From the outset, FORMakademisk has been published as a digital journal, and it was one of the first to offer OA in Norway. We have since the beginning used Open Journal Systems (OJS as publishing software. OJS is part of the Public Knowledge Project (PKP, which was created by Canadian John Willinsky and colleagues at the Faculty of Education at the University of British Columbia in 1998. The first version of OJS came as an open source software in 2001. The programme is free for everyone to use and is part of a larger collective movement wherein knowledge is shared. When FORMakademisk started in 2008, we received much help from the journal Acta Didactic (n.d. at the University of Oslo, which had started the year before us. They had also translated the programme to Norwegian. From the start, we were able to publish in both Norwegian and English. Other journals have used FORMakademisk as a model and source of inspiration when starting or when converting from subscription-based print journals to electronic OA, including the Journal of Norwegian Media Researchers [Norsk medietidsskrift]. It is in this way that the movement around PKP works and continues to grow to provide free access to research. As the articles are OA, they are also easily accessible to non-scientists. We also emphasise that the language should be readily available, although it should maintain a high scientific quality. Often there may be two sides of the same coin. We on the editorial team are now looking forward to adopting the newly developed OJS 3 this spring, with many new features and an improved design for users, including authors, peer reviewers, editors and readers.

  4. Electronic publishing of SPE papers

    International Nuclear Information System (INIS)

    Perdue, J.M.

    1992-01-01

    This paper reports that the SPE is creating an electronic index to over 25,000 technical papers and will produce a CD-ROM as an initial product. This SPE CD-ROM Masterdisc will be available at the SPE Annual Meeting in Washington, D.C. on October 4-7, 1992. The SPE Board has appointed an Ad Hoc Committee on Electronic Publishing to coordinate and oversee this project and to recommend authoring standards for submitting SPE papers electronically in the future

  5. Open Access Publishing with Drupal

    Directory of Open Access Journals (Sweden)

    Nina McHale

    2011-10-01

    Full Text Available In January 2009, the Colorado Association of Libraries (CAL suspended publication of its print quarterly journal, Colorado Libraries, as a cost-saving measure in a time of fiscal uncertainty. Printing and mailing the journal to its 1300 members cost CAL more than $26,000 per year. Publication of the journal was placed on an indefinite hiatus until the editorial staff proposed an online, open access format a year later. The benefits to migrating to open access included: significantly lower costs; a green platform; instant availability of content; a greater level of access to users with disabilities; and a higher level of visibility of the journal and the association. The editorial staff chose Drupal, including the E-journal module, and while Drupal is notorious for its steep learning curve—which exacerbated delays to content that had been created before the publishing hiatus—the fourth electronic issue was published recently at coloradolibrariesjournal.org. This article will discuss both the benefits and challenges of transitioning to an open access model and the choice Drupal as a platform over other more established journal software options.

  6. E-publishing and multimodalities

    Directory of Open Access Journals (Sweden)

    Yngve Nordkvelle

    2008-12-01

    Full Text Available In the literature of e-publishing there has been a consistent call from the advent of e-publishing on, until now, to explore new ways of expressing ideas through the new media. It has been claimed that the Internet opens an alley of possibilities and opportunites for publishing that will change the ways of publishing once and for all. In the area of publication of e-journals, however, the call for changes has received very modest responds.The thing is, it appears, that the conventional paper journal has a solid grip on the accepted formats of publishing. In a published research paper Mayernik (2007 explaines some of the reasons for that. Although pioneers of e-publishing suggested various areas where academic publishing could be expanded on, the opportunities given are scarsely used. Mayernik outlines "Non-linearity", "Multimedia", "Multiple use", "Interactivity" and "Rapid Publication" as areas of expansion for the academic e-journal. (2007. The paper deserves a thorough reading in itself, and I will briefly quote from his conclusion: "It is likely that the traditional linear article will continue to be the prevalent format for scholarly journals, both print and electronic, for the foreseeable future, and while electronic features will garner more and more use as technology improves, they will continue to be used to supplement, and not supplant, the traditional article."This is a challenging situation. If we accept the present dominant style of presenting scientific literature, we would use our energy best in seeking a way of improving the efficiency of that communication style. The use of multimedia, non-linearity etc. would perfect the present state, but still keep the scientific article as the main template. It is very unlikely that scientific publication will substitute the scholarly article with unproven alternatives. What we face is a rather conservative style of remediation that blurs the impact of the new media, - or "transparency" if

  7. Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility

    NARCIS (Netherlands)

    Chang, Chia-Jung; Kuo, Ho-Chang; Chang, Jeng-Sheng; Lee, Jong-Keuk; Tsai, Fuu-Jen; Khor, Chiea Chuen; Chang, Li-Ching; Chen, Shih-Ping; Ko, Tai-Ming; Liu, Yi-Min; Chen, Ying-Ju; Hong, Young Mi; Jang, Gi Young; Hibberd, Martin L.; Kuijpers, Taco; Burgner, David; Levin, Michael; Burns, Jane C.; Davila, Sonia; Chen, Yuan-Tsong; Chen, Chien-Hsiun; Wu, Jer-Yuarn; Lee, Yi-Ching; Liang, Chi-Di; Hwang, Kao-Pin; Chang, Luan-Yin; Huang, Li-Min; Chen, Ming-Ren; Chi, Hsin; Huang, Fu-Yuan; Chiu, Nan-Chang; Lee, Meng-Luen; Huang, Yhu-Chering; Hwang, Betau; Lee, Pi-Chang; Yoo, Jeong-Jin; Park, In-Sook; Hong, Soo-Jong; Kim, Kwi-Joo; Kim, Jae-Jung; Sohn, Saejung; Young Jang, Gi; Ha, Kee-Soo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Yun, Sin Weon; Han, Myung Ki; Kuipers, Irene M.; Ottenkamp, Jaap J.; Biezeveld, Maarten

    2013-01-01

    The BLK and CD40 loci have been associated with Kawasaki disease (KD) in two genome-wide association studies (GWAS) conducted in a Taiwanese population of Han Chinese ancestry (Taiwanese) and in Japanese cohorts. Here we build on these findings with replication studies of the BLK and CD40 loci in

  8. Publishing corruption discussion: predatory journalism.

    Science.gov (United States)

    Jones, James W; McCullough, Laurence B

    2014-02-01

    Dr Spock is a brilliant young vascular surgeon who is up for tenure next year. He has been warned by the chair of surgery that he needs to increase his list of publications to assure passage. He has recently had a paper reviewed by one of the top journals in his specialty, Journal X-special, with several suggestions for revision. He received an e-mail request for manuscript submission from a newly minted, open access, Journal of Vascular Disease Therapy, which promises a quick and likely favorable response for a fee. What should be done? A. Send the paper to another peer reviewed journal with the suggested revisions. B. Resubmit the paper to Journal X-special. C. Submit to the online journal as is to save time. D. Submit to the online journal and another regular journal. E. Look for another job. Copyright © 2014 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.

  9. The IAEA as a publisher

    International Nuclear Information System (INIS)

    1965-01-01

    One of the largest publishing enterprises in Vienna has developed in then Agency, incidental to its function of disseminating scientific information. The Agency recently completed its sixth year of scientific publication of literature dealing with the peaceful uses of atomic energy. Quite early in the history of IAEA, this work grew to considerable dimensions. In 1959 the programme consisted of two volumes in the Proceedings series, one in the Safety series, and four Technical Directories, making a total in that year of 18 000 books, in addition to those prepared for free distribution. In the following year, as Agency meetings and other activities developed, the list was much longer consisting of six volumes in the Proceedings series, two in the Safety series, two in the Technical Directory series, eight in the Review series, two in the Bibliographical series, three panel reports, one volume in the legal series and the first issue of 'Nuclear Fusion'. The total number of volumes sold was 24 000, in addition to the large number for free distribution. Thereafter, there was some difficulty in keeping up with the expanding demands, and some arrears of contract printing began to accumulate. It was therefore decided to introduce internal printing of Agency publications. The adoption of the 'cold type' method in 1962 led to considerable savings and faster production. During 1963, printing and binding equipment was installed which rendered the Agency independent of contractual services. Current policy is to print and bind internally all IAEA publications except the journal, 'Nuclear Fusion', Average annual production now consists of about twenty volumes of the proceedings of scientific meetings, six technical directories (the Directory of Nuclear Reactors has been published in its fifth edition), several bibliographies and numerous technical reports

  10. Simultaneous inference of phenotype-associated genes and relevant tissues from GWAS data via Bayesian integration of multiple tissue-specific gene networks.

    Science.gov (United States)

    Wu, Mengmeng; Lin, Zhixiang; Ma, Shining; Chen, Ting; Jiang, Rui; Wong, Wing Hung

    2017-12-01

    Although genome-wide association studies (GWAS) have successfully identified thousands of genomic loci associated with hundreds of complex traits in the past decade, the debate about such problems as missing heritability and weak interpretability has been appealing for effective computational methods to facilitate the advanced analysis of the vast volume of existing and anticipated genetic data. Towards this goal, gene-level integrative GWAS analysis with the assumption that genes associated with a phenotype tend to be enriched in biological gene sets or gene networks has recently attracted much attention, due to such advantages as straightforward interpretation, less multiple testing burdens, and robustness across studies. However, existing methods in this category usually exploit non-tissue-specific gene networks and thus lack the ability to utilize informative tissue-specific characteristics. To overcome this limitation, we proposed a Bayesian approach called SIGNET (Simultaneously Inference of GeNEs and Tissues) to integrate GWAS data and multiple tissue-specific gene networks for the simultaneous inference of phenotype-associated genes and relevant tissues. Through extensive simulation studies, we showed the effectiveness of our method in finding both associated genes and relevant tissues for a phenotype. In applications to real GWAS data of 14 complex phenotypes, we demonstrated the power of our method in both deciphering genetic basis and discovering biological insights of a phenotype. With this understanding, we expect to see SIGNET as a valuable tool for integrative GWAS analysis, thereby boosting the prevention, diagnosis, and treatment of human inherited diseases and eventually facilitating precision medicine.

  11. Meta-GWAS Accuracy and Power (MetaGAP Calculator Shows that Hiding Heritability Is Partially Due to Imperfect Genetic Correlations across Studies.

    Directory of Open Access Journals (Sweden)

    Ronald de Vlaming

    2017-01-01

    Full Text Available Large-scale genome-wide association results are typically obtained from a fixed-effects meta-analysis of GWAS summary statistics from multiple studies spanning different regions and/or time periods. This approach averages the estimated effects of genetic variants across studies. In case genetic effects are heterogeneous across studies, the statistical power of a GWAS and the predictive accuracy of polygenic scores are attenuated, contributing to the so-called 'missing heritability'. Here, we describe the online Meta-GWAS Accuracy and Power (MetaGAP calculator (available at www.devlaming.eu which quantifies this attenuation based on a novel multi-study framework. By means of simulation studies, we show that under a wide range of genetic architectures, the statistical power and predictive accuracy provided by this calculator are accurate. We compare the predictions from the MetaGAP calculator with actual results obtained in the GWAS literature. Specifically, we use genomic-relatedness-matrix restricted maximum likelihood to estimate the SNP heritability and cross-study genetic correlation of height, BMI, years of education, and self-rated health in three large samples. These estimates are used as input parameters for the MetaGAP calculator. Results from the calculator suggest that cross-study heterogeneity has led to attenuation of statistical power and predictive accuracy in recent large-scale GWAS efforts on these traits (e.g., for years of education, we estimate a relative loss of 51-62% in the number of genome-wide significant loci and a relative loss in polygenic score R2 of 36-38%. Hence, cross-study heterogeneity contributes to the missing heritability.

  12. ESTABLISHING A PUBLISHING OUTFIT IN NIGERIA EMENYONU ...

    African Journals Online (AJOL)

    CIU

    stakeholders in the publishing industry,the legal environment of publishing, ... retailers. Publishing is a peculiar form of business for which a special group of very .... The publisher should provide furniture and fittings for the staff and intended ...

  13. DISC1 conditioned GWAS for psychosis proneness in a large Finnish birth cohort.

    Directory of Open Access Journals (Sweden)

    Liisa Tomppo

    Full Text Available BACKGROUND: Genetic evidence implicates the DISC1 gene in the etiology of a number of mental illnesses. Previously, we have reported association between DISC1 and measures of psychosis proneness, the Revised Social Anhedonia Scale (RSAS and Revised Physical Anhedonia Scale (RPAS, in the Northern Finland Birth Cohort 1966 (NFBC66. As part of the studies of this Finnish birth cohort genome-wide association analysis has recently been performed. METHODOLOGY: In the present study, we re-analyzed the genome-wide association data with regard to these two measures of psychosis proneness, conditioning on our previous DISC1 observation. From the original NFBC66 sample (N = 12 058, 4 561 individuals provided phenotype and genotype data. No markers were significant at the genome-wide level. However, several genes with biological relevance to mental illnesses were highlighted through loci displaying suggestive evidence for association (≥3 SNP with P<10E-4. These included the protein coding genes, CXCL3, KIAA1128, LCT, MED13L, TMCO7, TTN, and the micro RNA MIR620. CONCLUSIONS: By conditioning a previous genome-wide association study on DISC1, we have been able to identify eight genes as associating to psychosis proneness. Further, these molecules predominantly link to the DISC1 pathway, strengthening the evidence for the role of this gene network in the etiology of mental illness. The use of quantitative measures of psychosis proneness in a large population cohort will make these findings, once verified; more generalized to a broad selection of disorders related to psychoses and psychosis proneness.

  14. A meditation on the use of hands. Previously published in Scandinavian Journal of Occupational Therapy 1995; 2: 153-166.

    Science.gov (United States)

    Kielhofner, G

    2014-01-01

    The theme of mind-body unity is fundamental to occupational therapy. Nonetheless, the field continues to embrace a dualism of mind and body. This dualism persists because the field views the body only as an object, ignoring how the body is lived. Drawing upon phenomenological discussions of bodily experience, this paper illustrates how the lived body is a locus of intelligence, intentionality, adaptiveness, and experience. It also considers the bodily ground of motivation and thought and discusses how the body constitutes and incorporates its world. Finally, the paper considers implications of the lived body for therapy.

  15. Outcome of unicompartmental knee arthroplasty in octogenarians with tricompartmental osteoarthritis: A longer followup of previously published report

    Directory of Open Access Journals (Sweden)

    Sanjiv KS Marya

    2013-01-01

    Full Text Available Background: Unicompartmental knee arthroplasty (UKA has specific indications, producing excellent results. It, however, has a limited lifespan and needs eventual conversion to total knee arthroplasty (TKA. It is, therefore, a temporizing procedure in select active young patients with advanced unicompartmental osteoarthritis (UCOA. Being a less morbid procedure it is suggested as an alternative in the very elderly patients with tricompartmental osteoarthritis (TCOA. We performed UKA in a series of 45 octogenarians with TCOA predominant medial compartment osteoarthritis (MCOA and analyzed the results. Materials and Methods: Forty five octogenarian patients with TCOA predominant MCOA underwent UKA (19 bilateral from January 2002 to January 2012. All had similar preoperative work-up, surgical approach, procedure, implants and postoperative protocol. Clinicoradiological assessment was done at 3-monthly intervals for the first year, then yearly till the last followup (average 72 months, range 8-128 months. Results were evaluated using the knee society scores (KSS, satisfaction index [using the visual analogue scale (VAS] and orthogonal radiographs (for loosening, subsidence, lysis or implant wear. Resurgery for any cause was considered failure. Results: Four patients (six knees died due to medical conditions, two patients (three knees were lost to followup, and these were excluded from the final analysis. Barring two failures, all the remaining patients were pain-free and performing well at the final followup. Indications for resurgery were: medial femoral condyle fracture needing fixation subsequent conversion to TKA at 2 years (n=1 and progression of arthritis and pain leading to revision TKA at 6 years (n=1. Conclusion: UKA has shown successful outcomes with regards to pain relief and function with 96.4% implant survival and 94.9% good or excellent outcomes. Due to lower demands, early rehabilitation, less morbidity, and relative short life expectancy, UKA can successfully manage TCOA in the octogenarians.

  16. Genome-wide association mapping including phenotypes from relatives without genotypes in a single-step (ssGWAS for 6-week body weight in broiler chickens

    Directory of Open Access Journals (Sweden)

    Huiyu eWang

    2014-05-01

    Full Text Available The purpose of this study was to compare results obtained from various methodologies for genome-wide association studies, when applied to real data, in terms of number and commonality of regions identified and their genetic variance explained, computational speed, and possible pitfalls in interpretations of results. Methodologies include: two iteratively reweighted single-step genomic BLUP procedures (ssGWAS1 and ssGWAS2, a single-marker model (CGWAS, and BayesB. The ssGWAS methods utilize genomic breeding values (GEBVs based on combined pedigree, genomic and phenotypic information, while CGWAS and BayesB only utilize phenotypes from genotyped animals or pseudo-phenotypes. In this study, ssGWAS was performed by converting GEBVs to SNP marker effects. Unequal variances for markers were incorporated for calculating weights into a new genomic relationship matrix. SNP weights were refined iteratively. The data was body weight at 6 weeks on 274,776 broiler chickens, of which 4553 were genotyped using a 60k SNP chip. Comparison of genomic regions was based on genetic variances explained by local SNP regions (20 SNPs. After 3 iterations, the noise was greatly reduced of ssGWAS1 and results are similar to that of CGWAS, with 4 out of the top 10 regions in common. In contrast, for BayesB, the plot was dominated by a single region explaining 23.1% of the genetic variance. This same region was found by ssGWAS1 with the same rank, but the amount of genetic variation attributed to the region was only 3%. These finding emphasize the need for caution when comparing and interpreting results from various methods, and highlight that detected associations, and strength of association, strongly depends on methodologies and details of implementations. BayesB appears to overly shrink regions to zero, while overestimating the amount of genetic variation attributed to the remaining SNP effects. The real world is most likely a compromise between methods and remains to

  17. GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment

    Science.gov (United States)

    Rietveld, Cornelius A.; Medland, Sarah E.; Derringer, Jaime; Yang, Jian; Esko, Tõnu; Martin, Nicolas W.; Westra, Harm-Jan; Shakhbazov, Konstantin; Abdellaoui, Abdel; Agrawal, Arpana; Albrecht, Eva; Alizadeh, Behrooz Z.; Amin, Najaf; Barnard, John; Baumeister, Sebastian E.; Benke, Kelly S.; Bielak, Lawrence F.; Boatman, Jeffrey A.; Boyle, Patricia A.; Davies, Gail; de Leeuw, Christiaan; Eklund, Niina; Evans, Daniel S.; Ferhmann, Rudolf; Fischer, Krista; Gieger, Christian; Gjessing, Håkon K.; Hägg, Sara; Harris, Jennifer R.; Hayward, Caroline; Holzapfel, Christina; Ibrahim-Verbaas, Carla A.; Ingelsson, Erik; Jacobsson, Bo; Joshi, Peter K.; Jugessur, Astanand; Kaakinen, Marika; Kanoni, Stavroula; Karjalainen, Juha; Kolcic, Ivana; Kristiansson, Kati; Kutalik, Zoltán; Lahti, Jari; Lee, Sang H.; Lin, Peng; Lind, Penelope A.; Liu, Yongmei; Lohman, Kurt; Loitfelder, Marisa; McMahon, George; Vidal, Pedro Marques; Meirelles, Osorio; Milani, Lili; Myhre, Ronny; Nuotio, Marja-Liisa; Oldmeadow, Christopher J.; Petrovic, Katja E.; Peyrot, Wouter J.; Polašek, Ozren; Quaye, Lydia; Reinmaa, Eva; Rice, John P.; Rizzi, Thais S.; Schmidt, Helena; Schmidt, Reinhold; Smith, Albert V.; Smith, Jennifer A.; Tanaka, Toshiko; Terracciano, Antonio; van der Loos, Matthijs J.H.M.; Vitart, Veronique; Völzke, Henry; Wellmann, Jürgen; Yu, Lei; Zhao, Wei; Allik, Jüri; Attia, John R.; Bandinelli, Stefania; Bastardot, François; Beauchamp, Jonathan; Bennett, David A.; Berger, Klaus; Bierut, Laura J.; Boomsma, Dorret I.; Bültmann, Ute; Campbell, Harry; Chabris, Christopher F.; Cherkas, Lynn; Chung, Mina K.; Cucca, Francesco; de Andrade, Mariza; De Jager, Philip L.; De Neve, Jan-Emmanuel; Deary, Ian J.; Dedoussis, George V.; Deloukas, Panos; Dimitriou, Maria; Eiriksdottir, Gudny; Elderson, Martin F.; Eriksson, Johan G.; Evans, David M.; Faul, Jessica D.; Ferrucci, Luigi; Garcia, Melissa E.; Grönberg, Henrik; Gudnason, Vilmundur; Hall, Per; Harris, Juliette M.; Harris, Tamara B.; Hastie, Nicholas D.; Heath, Andrew C.; Hernandez, Dena G.; Hoffmann, Wolfgang; Hofman, Adriaan; Holle, Rolf; Holliday, Elizabeth G.; Hottenga, Jouke-Jan; Iacono, William G.; Illig, Thomas; Järvelin, Marjo-Riitta; Kähönen, Mika; Kaprio, Jaakko; Kirkpatrick, Robert M.; Kowgier, Matthew; Latvala, Antti; Launer, Lenore J.; Lawlor, Debbie A.; Lehtimäki, Terho; Li, Jingmei; Lichtenstein, Paul; Lichtner, Peter; Liewald, David C.; Madden, Pamela A.; Magnusson, Patrik K. E.; Mäkinen, Tomi E.; Masala, Marco; McGue, Matt; Metspalu, Andres; Mielck, Andreas; Miller, Michael B.; Montgomery, Grant W.; Mukherjee, Sutapa; Nyholt, Dale R.; Oostra, Ben A.; Palmer, Lyle J.; Palotie, Aarno; Penninx, Brenda; Perola, Markus; Peyser, Patricia A.; Preisig, Martin; Räikkönen, Katri; Raitakari, Olli T.; Realo, Anu; Ring, Susan M.; Ripatti, Samuli; Rivadeneira, Fernando; Rudan, Igor; Rustichini, Aldo; Salomaa, Veikko; Sarin, Antti-Pekka; Schlessinger, David; Scott, Rodney J.; Snieder, Harold; Pourcain, Beate St; Starr, John M.; Sul, Jae Hoon; Surakka, Ida; Svento, Rauli; Teumer, Alexander; Tiemeier, Henning; Rooij, Frank JAan; Van Wagoner, David R.; Vartiainen, Erkki; Viikari, Jorma; Vollenweider, Peter; Vonk, Judith M.; Waeber, Gérard; Weir, David R.; Wichmann, H.-Erich; Widen, Elisabeth; Willemsen, Gonneke; Wilson, James F.; Wright, Alan F.; Conley, Dalton; Davey-Smith, George; Franke, Lude; Groenen, Patrick J. F.; Hofman, Albert; Johannesson, Magnus; Kardia, Sharon L.R.; Krueger, Robert F.; Laibson, David; Martin, Nicholas G.; Meyer, Michelle N.; Posthuma, Danielle; Thurik, A. Roy; Timpson, Nicholas J.; Uitterlinden, André G.; van Duijn, Cornelia M.; Visscher, Peter M.; Benjamin, Daniel J.; Cesarini, David; Koellinger, Philipp D.

    2013-01-01

    A genome-wide association study of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent SNPs are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three replicate. Estimated effects sizes are small (R2 ≈ 0.02%), approximately 1 month of schooling per allele. A linear polygenic score from all measured SNPs accounts for ≈ 2% of the variance in both educational attainment and cognitive function. Genes in the region of the loci have previously been associated with health, cognitive, and central nervous system phenotypes, and bioinformatics analyses suggest the involvement of the anterior caudate nucleus. These findings provide promising candidate SNPs for follow-up work, and our effect size estimates can anchor power analyses in social-science genetics. PMID:23722424

  18. Electrons, Electronic Publishing, and Electronic Display.

    Science.gov (United States)

    Brownrigg, Edwin B.; Lynch, Clifford A.

    1985-01-01

    Provides a perspective on electronic publishing by distinguishing between "Newtonian" publishing and "quantum-mechanical" publishing. Highlights include media and publishing, works delivered through electronic media, electronic publishing and the printed word, management of intellectual property, and recent copyright-law issues…

  19. Underestimated effect sizes in GWAS: fundamental limitations of single SNP analysis for dichotomous phenotypes.

    Directory of Open Access Journals (Sweden)

    Sven Stringer

    Full Text Available Complex diseases are often highly heritable. However, for many complex traits only a small proportion of the heritability can be explained by observed genetic variants in traditional genome-wide association (GWA studies. Moreover, for some of those traits few significant SNPs have been identified. Single SNP association methods test for association at a single SNP, ignoring the effect of other SNPs. We show using a simple multi-locus odds model of complex disease that moderate to large effect sizes of causal variants may be estimated as relatively small effect sizes in single SNP association testing. This underestimation effect is most severe for diseases influenced by numerous risk variants. We relate the underestimation effect to the concept of non-collapsibility found in the statistics literature. As described, continuous phenotypes generated with linear genetic models are not affected by this underestimation effect. Since many GWA studies apply single SNP analysis to dichotomous phenotypes, previously reported results potentially underestimate true effect sizes, thereby impeding identification of true effect SNPs. Therefore, when a multi-locus model of disease risk is assumed, a multi SNP analysis may be more appropriate.

  20. Two‐phase designs for joint quantitative‐trait‐dependent and genotype‐dependent sampling in post‐GWAS regional sequencing

    Science.gov (United States)

    Espin‐Garcia, Osvaldo; Craiu, Radu V.

    2017-01-01

    ABSTRACT We evaluate two‐phase designs to follow‐up findings from genome‐wide association study (GWAS) when the cost of regional sequencing in the entire cohort is prohibitive. We develop novel expectation‐maximization‐based inference under a semiparametric maximum likelihood formulation tailored for post‐GWAS inference. A GWAS‐SNP (where SNP is single nucleotide polymorphism) serves as a surrogate covariate in inferring association between a sequence variant and a normally distributed quantitative trait (QT). We assess test validity and quantify efficiency and power of joint QT‐SNP‐dependent sampling and analysis under alternative sample allocations by simulations. Joint allocation balanced on SNP genotype and extreme‐QT strata yields significant power improvements compared to marginal QT‐ or SNP‐based allocations. We illustrate the proposed method and evaluate the sensitivity of sample allocation to sampling variation using data from a sequencing study of systolic blood pressure. PMID:29239496

  1. Comparing Analytic Methods for Longitudinal GWAS and a Case-Study Evaluating Chemotherapy Course Length in Pediatric AML. A Report from the Children’s Oncology Group.

    Directory of Open Access Journals (Sweden)

    Marijana Vujkovic

    2016-08-01

    Full Text Available Regression analysis is commonly used in genome-wide association studies (GWAS to test genotype-phenotype associations but restricts the phenotype to a single observation for each individual. There is an increasing need for analytic methods for longitudinally collected phenotype data. Several methods have been proposed to perform longitudinal GWAS for family-based studies but few methods are described for unrelated populations. We compared the performance of three statistical approaches for longitudinal GWAS in unrelated subjectes: (1 principal component-based generalized estimating equations (PC-GEE; (2 principal component-based linear mixed effects model (PC-LMEM; (3 kinship coefficient matrix-based linear mixed effects model (KIN-LMEM, in a study of single-nucleotide polymorphisms (SNPs on the duration of 4 courses of chemotherapy in 624 unrelated children with de novo acute myeloid leukemia (AML genotyped on the Illumina 2.5M OmniQuad from the COG studies AAML0531 and AAML1031.In this study we observed an exaggerated type I error with PC-GEE in SNPs with minor allele frequencies < 0.05, wheras KIN-LMEM produces more than expected type II errors. PC-MEM showed balanced type I and type II errors for the observed versus expected P-values in comparison to competing approaches. In general, a strong concordance was observed between the P-values with the different approaches, in particular among P-values < 0.01 where the between-method AUCs exceed 99%. PC-LMEM accounts for genetic relatedness and correlations among repeated phenotype measures, shows minimal genome-wide inflation of type I errors, and yields high power. We therefore recommend PC-LMEM as a robust analytic approach for GWAS of longitudinal data in unrelated populations.

  2. Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

    Directory of Open Access Journals (Sweden)

    Carsten A Böger

    2011-09-01

    Full Text Available Family studies suggest a genetic component to the etiology of chronic kidney disease (CKD and end stage renal disease (ESRD. Previously, we identified 16 loci for eGFR in genome-wide association studies, but the associations of these single nucleotide polymorphisms (SNPs for incident CKD or ESRD are unknown. We thus investigated the association of these loci with incident CKD in 26,308 individuals of European ancestry free of CKD at baseline drawn from eight population-based cohorts followed for a median of 7.2 years (including 2,122 incident CKD cases defined as eGFR <60ml/min/1.73m(2 at follow-up and with ESRD in four case-control studies in subjects of European ancestry (3,775 cases, 4,577 controls. SNPs at 11 of the 16 loci (UMOD, PRKAG2, ANXA9, DAB2, SHROOM3, DACH1, STC1, SLC34A1, ALMS1/NAT8, UBE2Q2, and GCKR were associated with incident CKD; p-values ranged from p = 4.1e-9 in UMOD to p = 0.03 in GCKR. After adjusting for baseline eGFR, six of these loci remained significantly associated with incident CKD (UMOD, PRKAG2, ANXA9, DAB2, DACH1, and STC1. SNPs in UMOD (OR = 0.92, p = 0.04 and GCKR (OR = 0.93, p = 0.03 were nominally associated with ESRD. In summary, the majority of eGFR-related loci are either associated or show a strong trend towards association with incident CKD, but have modest associations with ESRD in individuals of European descent. Additional work is required to characterize the association of genetic determinants of CKD and ESRD at different stages of disease progression.

  3. Desktop Publishing Choices: Making an Appropriate Decision.

    Science.gov (United States)

    Crawford, Walt

    1991-01-01

    Discusses various choices available for desktop publishing systems. Four categories of software are described, including advanced word processing, graphics software, low-end desktop publishing, and mainstream desktop publishing; appropriate hardware is considered; and selection guidelines are offered, including current and future publishing needs,…

  4. MUCH Electronic Publishing Environment: Principles and Practices.

    Science.gov (United States)

    Min, Zheng; Rada, Roy

    1994-01-01

    Discusses the electronic publishing system called Many Using and Creating Hypermedia (MUCH). The MUCH system supports collaborative authoring; reuse; formatting and printing; management; hypermedia publishing and delivery; and interchange. This article examines electronic publishing environments; the MUCH environment; publishing activities; and…

  5. Self-Published Books: An Empirical "Snapshot"

    Science.gov (United States)

    Bradley, Jana; Fulton, Bruce; Helm, Marlene

    2012-01-01

    The number of books published by authors using fee-based publication services, such as Lulu and AuthorHouse, is overtaking the number of books published by mainstream publishers, according to Bowker's 2009 annual data. Little empirical research exists on self-published books. This article presents the results of an investigation of a random sample…

  6. The more from East-Asian, the better: risk prediction of colorectal cancer risk by GWAS-identified SNPs among Japanese.

    Science.gov (United States)

    Abe, Makiko; Ito, Hidemi; Oze, Isao; Nomura, Masatoshi; Ogawa, Yoshihiro; Matsuo, Keitaro

    2017-12-01

    Little is known about the difference of genetic predisposition for CRC between ethnicities; however, many genetic traits common to colorectal cancer have been identified. This study investigated whether more SNPs identified in GWAS in East Asian population could improve the risk prediction of Japanese and explored possible application of genetic risk groups as an instrument of the risk communication. 558 Patients histologically verified colorectal cancer and 1116 first-visit outpatients were included for derivation study, and 547 cases and 547 controls were for replication study. Among each population, we evaluated prediction models for the risk of CRC that combined the genetic risk group based on SNPs from GWASs in European-population and a similarly developed model adding SNPs from GWASs in East Asian-population. We examined whether adding East Asian-specific SNPs would improve the discrimination. Six SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) from 23 SNPs by European-based GWAS and five SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) among ten SNPs by Asian-based GWAS were selected in CRC risk prediction model. Compared with a 6-SNP-based model, an 11-SNP model including Asian GWAS-SNPs showed improved discrimination capacity in Receiver operator characteristic analysis. A model with 11 SNPs resulted in statistically significant improvement in both derivation (P = 0.0039) and replication studies (P = 0.0018) compared with six SNP model. We estimated cumulative risk of CRC by using genetic risk group based on 11 SNPs and found that the cumulative risk at age 80 is approximately 13% in the high-risk group while 6% in the low-risk group. We constructed a more efficient CRC risk prediction model with 11 SNPs including newly identified East Asian-based GWAS SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279). Risk grouping based on 11 SNPs depicted lifetime difference of CRC risk. This might be useful for

  7. Structure and navigation for electronic publishing

    Science.gov (United States)

    Tillinghast, John; Beretta, Giordano B.

    1998-01-01

    The sudden explosion of the World Wide Web as a new publication medium has given a dramatic boost to the electronic publishing industry, which previously was a limited market centered around CD-ROMs and on-line databases. While the phenomenon has parallels to the advent of the tabloid press in the middle of last century, the electronic nature of the medium brings with it the typical characteristic of 4th wave media, namely the acceleration in its propagation speed and the volume of information. Consequently, e-publications are even flatter than print media; Shakespeare's Romeo and Juliet share the same computer screen with a home-made plagiarized copy of Deep Throat. The most touted tool for locating useful information on the World Wide Web is the search engine. However, due to the medium's flatness, sought information is drowned in a sea of useless information. A better solution is to build tools that allow authors to structure information so that it can easily be navigated. We experimented with the use of ontologies as a tool to formulate structures for information about a specific topic, so that related concepts are placed in adjacent locations and can easily be navigated using simple and ergonomic user models. We describe our effort in building a World Wide Web based photo album that is shared among a small network of people.

  8. Types of Open Access Publishers in Scopus

    Directory of Open Access Journals (Sweden)

    David Solomon

    2013-05-01

    Full Text Available This study assessed characteristics of publishers who published 2010 open access (OA journals indexed in Scopus. Publishers were categorized into six types; professional, society, university, scholar/researcher, government, and other organizations. Type of publisher was broken down by number of journals/articles published in 2010, funding model, location, discipline and whether the journal was born or converted to OA. Universities and societies accounted for 50% of the journals and 43% of the articles published. Professional publisher accounted for a third of the journals and 42% of the articles. With the exception of professional and scholar/researcher publishers, most journals were originally subscription journals that made at least their digital version freely available. Arts, humanities and social science journals are largely published by societies and universities outside the major publishing countries. Professional OA publishing is most common in biomedicine, mathematics, the sciences and engineering. Approximately a quarter of the journals are hosted on national/international platforms, in Latin America, Eastern Europe and Asia largely published by universities and societies without the need for publishing fees. This type of collaboration between governments, universities and/or societies may be an effective means of expanding open access publications.

  9. What was hidden in the Publisher's Archive

    DEFF Research Database (Denmark)

    Mai, Anne-Marie

    2015-01-01

    On the Danish Author Elsa Gress and her correspondence on American Literature with the Publisher, K. E. Hermann, Arena.......On the Danish Author Elsa Gress and her correspondence on American Literature with the Publisher, K. E. Hermann, Arena....

  10. Desktop Publishing: Changing Technology, Changing Occupations.

    Science.gov (United States)

    Stanton, Michael

    1991-01-01

    Describes desktop publishing (DTP) and its place in corporations. Lists job titles of those working in desktop publishing and describes DTP as it is taught at secondary and postsecondary levels and by private trainers. (JOW)

  11. Making the Leap to Desktop Publishing.

    Science.gov (United States)

    Schleifer, Neal

    1986-01-01

    Describes one teacher's approach to desktop publishing. Explains how the Macintosh and LaserWriter were used in the publication of a school newspaper. Guidelines are offered to teachers for the establishment of a desktop publishing lab. (ML)

  12. Promises and Realities of Desktop Publishing.

    Science.gov (United States)

    Thompson, Patricia A.; Craig, Robert L.

    1991-01-01

    Examines the underlying assumptions of the rhetoric of desktop publishing promoters. Suggests four criteria to help educators provide insights into issues and challenges concerning desktop publishing technology that design students will face on the job. (MG)

  13. Electronic Journal Publishing: Observations from Inside.

    Science.gov (United States)

    Hunter, Karen

    1998-01-01

    Focuses on electronic scholarly-journal publishing. Discusses characteristics of current academic electronic publishing; effects of the World Wide Web; user needs and positions of academic libraries; costs; and decisions of research librarians that drive the industry. (AEF)

  14. Basics of Desktop Publishing. Second Edition.

    Science.gov (United States)

    Beeby, Ellen; Crummett, Jerrie

    This document contains teacher and student materials for a basic course in desktop publishing. Six units of instruction cover the following: (1) introduction to desktop publishing; (2) desktop publishing systems; (3) software; (4) type selection; (5) document design; and (6) layout. The teacher edition contains some or all of the following…

  15. The Changing Business of Scholarly Publishing.

    Science.gov (United States)

    Hunter, Karen

    1993-01-01

    Discussion of changes and trends in scholarly publishing highlights monographs; journals; user-centered publishing; electronic products and services, including adding value, marketing strategies, and new pricing systems; changing attitudes regarding copyright; trends in publishing industry reorganization; and impacts on research libraries. (LRW)

  16. Mapping of HKT1;5 Gene in Barley Using GWAS Approach and Its Implication in Salt Tolerance Mechanism

    Science.gov (United States)

    Hazzouri, Khaled M.; Khraiwesh, Basel; Amiri, Khaled M. A.; Pauli, Duke; Blake, Tom; Shahid, Mohammad; Mullath, Sangeeta K.; Nelson, David; Mansour, Alain L.; Salehi-Ashtiani, Kourosh; Purugganan, Michael; Masmoudi, Khaled

    2018-01-01

    Sodium (Na+) accumulation in the cytosol will result in ion homeostasis imbalance and toxicity of transpiring leaves. Studies of salinity tolerance in the diploid wheat ancestor Triticum monococcum showed that HKT1;5-like gene was a major gene in the QTL for salt tolerance, named Nax2. In the present study, we were interested in investigating the molecular mechanisms underpinning the role of the HKT1;5 gene in salt tolerance in barley (Hordeum vulgare). A USDA mini-core collection of 2,671 barley lines, part of a field trial was screened for salinity tolerance, and a Genome Wide Association Study (GWAS) was performed. Our results showed important SNPs that are correlated with salt tolerance that mapped to a region where HKT1;5 ion transporter located on chromosome four. Furthermore, sodium (Na+) and potassium (K+) content analysis revealed that tolerant lines accumulate more sodium in roots and leaf sheaths, than in the sensitive ones. In contrast, sodium concentration was reduced in leaf blades of the tolerant lines under salt stress. In the absence of NaCl, the concentration of Na+ and K+ were the same in the roots, leaf sheaths and leaf blades between the tolerant and the sensitive lines. In order to study the molecular mechanism behind that, alleles of the HKT1;5 gene from five tolerant and five sensitive barley lines were cloned and sequenced. Sequence analysis did not show the presence of any polymorphism that distinguishes between the tolerant and sensitive alleles. Our real-time RT-PCR experiments, showed that the expression of HKT1;5 gene in roots of the tolerant line was significantly induced after challenging the plants with salt stress. In contrast, in leaf sheaths the expression was decreased after salt treatment. In sensitive lines, there was no difference in the expression of HKT1;5 gene in leaf sheath under control and saline conditions, while a slight increase in the expression was observed in roots after salt treatment. These results provide

  17. Mapping of HKT1;5 Gene in Barley Using GWAS Approach and Its Implication in Salt Tolerance Mechanism

    Directory of Open Access Journals (Sweden)

    Khaled M. Hazzouri

    2018-02-01

    Full Text Available Sodium (Na+ accumulation in the cytosol will result in ion homeostasis imbalance and toxicity of transpiring leaves. Studies of salinity tolerance in the diploid wheat ancestor Triticum monococcum showed that HKT1;5-like gene was a major gene in the QTL for salt tolerance, named Nax2. In the present study, we were interested in investigating the molecular mechanisms underpinning the role of the HKT1;5 gene in salt tolerance in barley (Hordeum vulgare. A USDA mini-core collection of 2,671 barley lines, part of a field trial was screened for salinity tolerance, and a Genome Wide Association Study (GWAS was performed. Our results showed important SNPs that are correlated with salt tolerance that mapped to a region where HKT1;5 ion transporter located on chromosome four. Furthermore, sodium (Na+ and potassium (K+ content analysis revealed that tolerant lines accumulate more sodium in roots and leaf sheaths, than in the sensitive ones. In contrast, sodium concentration was reduced in leaf blades of the tolerant lines under salt stress. In the absence of NaCl, the concentration of Na+ and K+ were the same in the roots, leaf sheaths and leaf blades between the tolerant and the sensitive lines. In order to study the molecular mechanism behind that, alleles of the HKT1;5 gene from five tolerant and five sensitive barley lines were cloned and sequenced. Sequence analysis did not show the presence of any polymorphism that distinguishes between the tolerant and sensitive alleles. Our real-time RT-PCR experiments, showed that the expression of HKT1;5 gene in roots of the tolerant line was significantly induced after challenging the plants with salt stress. In contrast, in leaf sheaths the expression was decreased after salt treatment. In sensitive lines, there was no difference in the expression of HKT1;5 gene in leaf sheath under control and saline conditions, while a slight increase in the expression was observed in roots after salt treatment. These

  18. Identification and Verification of QTL Associated with Frost Tolerance Using Linkage Mapping and GWAS in Winter Faba Bean.

    Science.gov (United States)

    Sallam, Ahmed; Arbaoui, Mustapha; El-Esawi, Mohamed; Abshire, Nathan; Martsch, Regina

    2016-01-01

    Frost stress is one of the abiotic stresses that causes a significant reduction in winter faba bean yield in Europe. The main objective of this work is to genetically improve frost tolerance in winter faba bean by identifying and validating QTL associated with frost tolerance to be used in marker-assisted selection (MAS). Two different genetic backgrounds were used: a biparental population (BPP) consisting of 101 inbred lines, and 189 genotypes from single seed descent (SSD) from the Gottingen Winter bean Population (GWBP). All experiments were conducted in a frost growth chamber under controlled conditions. Both populations were genotyped using the same set of 189 SNP markers. Visual scoring for frost stress symptoms was used to define frost tolerance in both populations. In addition, leaf fatty acid composition (FAC) and proline content were analyzed in BPP as physiological traits. QTL mapping (for BPP) and genome wide association studies (for GWBP) were performed to detect QTL associated with frost tolerance. High genetic variation between genotypes, and repeatability estimates, were found for all traits. QTL mapping and GWAS identified new putative QTL associated with promising frost tolerance and related traits. A set of 54 SNP markers common in both genetic backgrounds showed a high genetic diversity with polymorphic information content (PIC) ranging from 0.31 to 0.37 and gene diversity ranging from 0.39 to 0.50. This indicates that these markers may be polymorphic for many faba bean populations. Five SNP markers showed a significant marker-trait association with frost tolerance and related traits in both populations. Moreover, synteny analysis between Medicago truncatula (a model legume) and faba bean genomes was performed to identify candidate genes for these markers. Collinearity was evaluated between the faba bean genetic map constructed in this study and the faba bean consensus map, resulting in identifying possible genomic regions in faba bean which may

  19. Identification and Verification of QTL Associated with Frost Tolerance Using Linkage Mapping and GWAS in Winter Faba Bean

    Science.gov (United States)

    Sallam, Ahmed; Arbaoui, Mustapha; El-Esawi, Mohamed; Abshire, Nathan; Martsch, Regina

    2016-01-01

    Frost stress is one of the abiotic stresses that causes a significant reduction in winter faba bean yield in Europe. The main objective of this work is to genetically improve frost tolerance in winter faba bean by identifying and validating QTL associated with frost tolerance to be used in marker-assisted selection (MAS). Two different genetic backgrounds were used: a biparental population (BPP) consisting of 101 inbred lines, and 189 genotypes from single seed descent (SSD) from the Gottingen Winter bean Population (GWBP). All experiments were conducted in a frost growth chamber under controlled conditions. Both populations were genotyped using the same set of 189 SNP markers. Visual scoring for frost stress symptoms was used to define frost tolerance in both populations. In addition, leaf fatty acid composition (FAC) and proline content were analyzed in BPP as physiological traits. QTL mapping (for BPP) and genome wide association studies (for GWBP) were performed to detect QTL associated with frost tolerance. High genetic variation between genotypes, and repeatability estimates, were found for all traits. QTL mapping and GWAS identified new putative QTL associated with promising frost tolerance and related traits. A set of 54 SNP markers common in both genetic backgrounds showed a high genetic diversity with polymorphic information content (PIC) ranging from 0.31 to 0.37 and gene diversity ranging from 0.39 to 0.50. This indicates that these markers may be polymorphic for many faba bean populations. Five SNP markers showed a significant marker-trait association with frost tolerance and related traits in both populations. Moreover, synteny analysis between Medicago truncatula (a model legume) and faba bean genomes was performed to identify candidate genes for these markers. Collinearity was evaluated between the faba bean genetic map constructed in this study and the faba bean consensus map, resulting in identifying possible genomic regions in faba bean which may

  20. Peer-review: An IOP Publishing Perspective

    Science.gov (United States)

    Smith, Timothy

    2015-03-01

    Online publishing is challenging, and potentially changing, the role of publishers in both managing the peer-review process and disseminating the work that they publish in meeting contrasting needs from diverse groups of research communities. Recognizing the value of peer-review as a fundamental service to authors and the research community, the underlying principles of managing the process for journals published by IOP Publishing remain unchanged and yet the potential and demand for alternative models exists. This talk will discuss the traditional approach to peer-review placed in the context of this changing demand.

  1. Preoperative screening: value of previous tests.

    Science.gov (United States)

    Macpherson, D S; Snow, R; Lofgren, R P

    1990-12-15

    To determine the frequency of tests done in the year before elective surgery that might substitute for preoperative screening tests and to determine the frequency of test results that change from a normal value to a value likely to alter perioperative management. Retrospective cohort analysis of computerized laboratory data (complete blood count, sodium, potassium, and creatinine levels, prothrombin time, and partial thromboplastin time). Urban tertiary care Veterans Affairs Hospital. Consecutive sample of 1109 patients who had elective surgery in 1988. At admission, 7549 preoperative tests were done, 47% of which duplicated tests performed in the previous year. Of 3096 previous results that were normal as defined by hospital reference range and done closest to the time of but before admission (median interval, 2 months), 13 (0.4%; 95% CI, 0.2% to 0.7%), repeat values were outside a range considered acceptable for surgery. Most of the abnormalities were predictable from the patient's history, and most were not noted in the medical record. Of 461 previous tests that were abnormal, 78 (17%; CI, 13% to 20%) repeat values at admission were outside a range considered acceptable for surgery (P less than 0.001, frequency of clinically important abnormalities of patients with normal previous results with those with abnormal previous results). Physicians evaluating patients preoperatively could safely substitute the previous test results analyzed in this study for preoperative screening tests if the previous tests are normal and no obvious indication for retesting is present.

  2. Structural Revision of Some Recently Published Iridoid Glucosides

    DEFF Research Database (Denmark)

    Jensen, Søren Rosendal; Calis, Ihsan; Gotfredsen, Charlotte Held

    2007-01-01

    ). Finally, two alleged iridoid galactosides from Buddleja crispa named buddlejosides A and B (12a and 12b) have been shown to be the corresponding glucosides; the former is identical to agnuside (13a) while the latter is 3,4-dihydroxybenzoylaucubin (13b), an iridoid glucoside not previously published...

  3. Augmenting Data with Published Results in Bayesian Linear Regression

    Science.gov (United States)

    de Leeuw, Christiaan; Klugkist, Irene

    2012-01-01

    In most research, linear regression analyses are performed without taking into account published results (i.e., reported summary statistics) of similar previous studies. Although the prior density in Bayesian linear regression could accommodate such prior knowledge, formal models for doing so are absent from the literature. The goal of this…

  4. Poet's Market, 1997: Where & How To Publish Your Poetry.

    Science.gov (United States)

    Martin, Christine, Ed.; Bentley, Chantelle, Ed.

    This directory provides 1700 listings and evaluations of poetry publishers--300 more than in the previous edition--along with complete submission and contact information. Listings include both domestic and international markets, from mass circulation and literary magazines to small presses and university quarterlies, and contain complete profiles…

  5. Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect.

    Directory of Open Access Journals (Sweden)

    Kevin R Thornton

    Full Text Available Current genome-wide association studies (GWAS have high power to detect intermediate frequency SNPs making modest contributions to complex disease, but they are underpowered to detect rare alleles of large effect (RALE. This has led to speculation that the bulk of variation for most complex diseases is due to RALE. One concern with existing models of RALE is that they do not make explicit assumptions about the evolution of a phenotype and its molecular basis. Rather, much of the existing literature relies on arbitrary mapping of phenotypes onto genotypes obtained either from standard population-genetic simulation tools or from non-genetic models. We introduce a novel simulation of a 100-kilobase gene region, based on the standard definition of a gene, in which mutations are unconditionally deleterious, are continuously arising, have partially recessive and non-complementing effects on phenotype (analogous to what is widely observed for most Mendelian disorders, and are interspersed with neutral markers that can be genotyped. Genes evolving according to this model exhibit a characteristic GWAS signature consisting of an excess of marginally significant markers. Existing tests for an excess burden of rare alleles in cases have low power while a simple new statistic has high power to identify disease genes evolving under our model. The structure of linkage disequilibrium between causative mutations and significantly associated markers under our model differs fundamentally from that seen when rare causative markers are assumed to be neutral. Rather than tagging single haplotypes bearing a large number of rare causative alleles, we find that significant SNPs in a GWAS tend to tag single causative mutations of small effect relative to other mutations in the same gene. Our results emphasize the importance of evaluating the power to detect associations under models that are genetically and evolutionarily motivated.

  6. A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk

    OpenAIRE

    Pooley, K. A.; Bojesen, S. E.; Weischer, M.; Nielsen, S. F.; Thompson, D.; Amin Al Olama, A.; Michailidou, K.; Tyrer, J. P.; Benlloch, S.; Brown, J.; Audley, T.; Luben, R.; Khaw, K.-T.; Neal, D. E.; Hamdy, F. C.

    2013-01-01

    Mean telomere length (TL) in blood cells is heritable and has been reported to be associated with risks of several diseases, including cancer. We conducted a meta-analysis of three GWAS for TL (total n=2240) and selected 1629 variants for replication via the ?iCOGS? custom genotyping array. All ?200 000 iCOGS variants were analysed with TL, and those displaying associations in healthy controls (n = 15 065) were further tested in breast cancer cases (n = 11 024). We found a novel TL associatio...

  7. Automatic electromagnetic valve for previous vacuum

    International Nuclear Information System (INIS)

    Granados, C. E.; Martin, F.

    1959-01-01

    A valve which permits the maintenance of an installation vacuum when electric current fails is described. It also lets the air in the previous vacuum bomb to prevent the oil ascending in the vacuum tubes. (Author)

  8. Ethical issues in publishing in predatory journals.

    Science.gov (United States)

    Ferris, Lorraine E; Winker, Margaret A

    2017-06-15

    Predatory journals, or journals that charge an article processing charge (APC) to authors, yet do not have the hallmarks of legitimate scholarly journals such as peer review and editing, Editorial Boards, editorial offices, and other editorial standards, pose a number of new ethical issues in journal publishing. This paper discusses ethical issues around predatory journals and publishing in them. These issues include misrepresentation; lack of editorial and publishing standards and practices; academic deception; research and funding wasted; lack of archived content; and undermining confidence in research literature. It is important that the scholarly community, including authors, institutions, editors, and publishers, support the legitimate scholarly research enterprise, and avoid supporting predatory journals by not publishing in them, serving as their editors or on the Editorial Boards, or permitting faculty to knowingly publish in them without consequences.

  9. QlikView Server and Publisher

    CERN Document Server

    Redmond, Stephen

    2014-01-01

    This is a comprehensive guide with a step-by-step approach that enables you to host and manage servers using QlikView Server and QlikView Publisher.If you are a server administrator wanting to learn about how to deploy QlikView Server for server management,analysis and testing, and QlikView Publisher for publishing of business content then this is the perfect book for you. No prior experience with QlikView is expected.

  10. Strategic Brand Management Tools in Publishing

    OpenAIRE

    Pitsaki, Irini

    2011-01-01

    Further to the introduction of the brand concept evolution and theory, as well as the ways these operate in the publishing sector (see paper: Pitsaki, I. 2010), the present paper treats publishing strategies and the tools used to establish them. Publishers often base their brand strategy on classic marketing approaches, such as the marketing mix -product, price, promotion, placement and people. They also direct their products to specific market segments in regard to the type of content and te...

  11. Mergers, Acquisitions, and Access: STM Publishing Today

    Science.gov (United States)

    Robertson, Kathleen

    Electronic publishing is changing the fundamentals of the entire printing/delivery/archive system that has served as the distribution mechanism for scientific research over the last century and a half. The merger-mania of the last 20 years, preprint pools, and publishers' licensing and journals-bundling plans are among the phenomena impacting the scientific information field. Science-Technology-Medical (STM) publishing is experiencing a period of intense consolidation and reorganization. This paper gives an overview of the economic factors fueling these trends, the major STM publishers, and the government regulatory bodies that referee this industry in Europe, Canada, and the USA.

  12. Investigation of previously derived Hyades, Coma, and M67 reddenings

    International Nuclear Information System (INIS)

    Taylor, B.J.

    1980-01-01

    New Hyades polarimetry and field star photometry have been obtained to check the Hyades reddening, which was found to be nonzero in a previous paper. The new Hyades polarimetry implies essentially zero reddening; this is also true of polarimetry published by Behr (which was incorrectly interpreted in the previous paper). Four photometric techniques which are presumed to be insensitive to blanketing are used to compare the Hyades to nearby field stars; these four techniques also yield essentially zero reddening. When all of these results are combined with others which the author has previously published and a simultaneous solution for the Hyades, Coma, and M67 reddenings is made, the results are E (B-V) =3 +- 2 (sigma) mmag, -1 +- 3 (sigma) mmag, and 46 +- 6 (sigma) mmag, respectively. No support for a nonzero Hyades reddening is offered by the new results. When the newly obtained reddenings for the Hyades, Coma, and M67 are compared with results from techniques given by Crawford and by users of the David Dunlap Observatory photometric system, no differences between the new and other reddenings are found which are larger than about 2 sigma. The author had previously found that the M67 main-sequence stars have about the same blanketing as that of Coma and less blanketing than the Hyades; this conclusion is essentially unchanged by the revised reddenings

  13. False gold: Safely navigating open access publishing to avoid predatory publishers and journals.

    Science.gov (United States)

    McCann, Terence V; Polacsek, Meg

    2018-04-01

    The aim of this study was to review and discuss predatory open access publishing in the context of nursing and midwifery and develop a set of guidelines that serve as a framework to help clinicians, educators and researchers avoid predatory publishers. Open access publishing is increasingly common across all academic disciplines. However, this publishing model is vulnerable to exploitation by predatory publishers, posing a threat to nursing and midwifery scholarship and practice. Guidelines are needed to help researchers recognize predatory journals and publishers and understand the negative consequences of publishing in them. Discussion paper. A literature search of BioMed Central, CINAHL, MEDLINE with Full Text and PubMed for terms related to predatory publishing, published in the period 2007-2017. Lack of awareness of the risks and pressure to publish in international journals, may result in nursing and midwifery researchers publishing their work in dubious open access journals. Caution should be taken prior to writing and submitting a paper, to avoid predatory publishers. The advantage of open access publishing is that it provides readers with access to peer-reviewed research as soon as it is published online. However, predatory publishers use deceptive methods to exploit open access publishing for their own profit. Clear guidelines are needed to help researchers navigate safely open access publishing. A deeper understanding of the risks of predatory publishing is needed. Clear guidelines should be followed by nursing and midwifery researchers seeking to publish their work in open access journals. © 2017 John Wiley & Sons Ltd.

  14. Academic Publishing: Making the Implicit Explicit

    Directory of Open Access Journals (Sweden)

    Cecile Badenhorst

    2016-07-01

    Full Text Available For doctoral students, publishing in peer-reviewed journals is a task many face with anxiety and trepidation. The world of publishing, from choosing a journal, negotiating with editors and navigating reviewers’ responses is a bewildering place. Looking in from the outside, it seems that successful and productive academic writers have knowledge that is inaccessible to novice scholars. While there is a growing literature on writing for scholarly publication, many of these publications promote writing and publishing as a straightforward activity that anyone can achieve if they follow the rules. We argue that the specific and situated contexts in which academic writers negotiate publishing practices is more complicated and messy. In this paper, we attempt to make explicit our publishing processes to highlight the complex nature of publishing. We use autoethnographic narratives to provide discussion points and insights into the challenges of publishing peer reviewed articles. One narrative is by a doctoral student at the beginning of her publishing career, who expresses her desires, concerns and anxieties about writing for publication. The other narrative focuses on the publishing practices of a more experienced academic writer. Both are international scholars working in the Canadian context. The purpose of this paper is to explore academic publishing through the juxtaposition of these two narratives to make explicit some of the more implicit processes. Four themes emerge from these narratives. To publish successfully, academic writers need: (1 to be discourse analysts; (2 to have a critical competence; (3 to have writing fluency; and (4 to be emotionally intelligent.

  15. Publish or perish: authorship and peer review

    Science.gov (United States)

    Publish or perish is defined in Wikipedia as the pressure to publish work constantly to further or sustain one’s career in academia. This is an apt description given that refereed scientific publications are the currency of science and the primary means for broad dissemination of knowledge. Professi...

  16. Open Access Publishing: What Authors Want

    Science.gov (United States)

    Nariani, Rajiv; Fernandez, Leila

    2012-01-01

    Campus-based open access author funds are being considered by many academic libraries as a way to support authors publishing in open access journals. Article processing fees for open access have been introduced recently by publishers and have not yet been widely accepted by authors. Few studies have surveyed authors on their reasons for publishing…

  17. Publisher Correction: Invisible Trojan-horse attack

    DEFF Research Database (Denmark)

    Sajeed, Shihan; Minshull, Carter; Jain, Nitin

    2017-01-01

    A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.......A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper....

  18. The cost of publishing in Danish astronomy

    DEFF Research Database (Denmark)

    Dorch, Bertil F.

    I investigate the cost of publishing in Danish astronomy on a fine scale, including all direct publication costs: The figures show how the annual number of publications with authors from Denmark in astronomy journals increased by a factor approximately four during 15 years (Elsevier’s Scopus...... database), and the increase of the corresponding potential (maximum) cost of publishing....

  19. Pages from the Desktop: Desktop Publishing Today.

    Science.gov (United States)

    Crawford, Walt

    1994-01-01

    Discusses changes that have made desktop publishing appealing and reasonably priced. Hardware, software, and printer options for getting started and moving on, typeface developments, and the key characteristics of desktop publishing are described. The author's notes on 33 articles from the personal computing literature from January-March 1994 are…

  20. Desktop Publishing for the Gifted/Talented.

    Science.gov (United States)

    Hamilton, Wayne

    1987-01-01

    Examines the nature of desktop publishing and how it can be used in the classroom for gifted/talented students. Characteristics and special needs of such students are identified, and it is argued that desktop publishing addresses those needs, particularly with regard to creativity. Twenty-six references are provided. (MES)

  1. Equity for open-access journal publishing.

    Directory of Open Access Journals (Sweden)

    Stuart M Shieber

    2009-08-01

    Full Text Available Open-access journals, which provide access to their scholarly articles freely and without limitations, are at a systematic disadvantage relative to traditional closed-access journal publishing and its subscription-based business model. A simple, cost-effective remedy to this inequity could put open-access publishing on a path to become a sustainable, efficient system.

  2. 20 CFR 902.3 - Published information.

    Science.gov (United States)

    2010-04-01

    ... 20 Employees' Benefits 3 2010-04-01 2010-04-01 false Published information. 902.3 Section 902.3 Employees' Benefits JOINT BOARD FOR THE ENROLLMENT OF ACTUARIES RULES REGARDING AVAILABILITY OF INFORMATION § 902.3 Published information. (a) Federal Register. Pursuant to sections 552 and 553 of title 5 of the...

  3. Publishers' Sales Strategies: A Questionable Business.

    Science.gov (United States)

    Eaglen, Audrey B.

    1988-01-01

    Speed, fill rate, and discount are reasons why it is often preferable for libraries to order directly from publishers rather than through a distributor. Nevertheless, some publishers have decided not to accept orders from libraries and schools. This has had a deleterious effect on libraries and library collections. (MES)

  4. Scientific publishing: some food for thought

    Directory of Open Access Journals (Sweden)

    Vittorio Bo

    2007-03-01

    Full Text Available Scientific publishing, here to be considered in a broader sense, as publishing of both specialised scientific journals and science popularisation works addressed to a wider audience, has been sailing for some years on troubled waters. To gather some possible food for thought is the purpose of this brief article.

  5. Electronic Publishing in Science: Changes and Risks.

    Science.gov (United States)

    Kinne, Otto

    1999-01-01

    Discussion of the Internet and the guidance of the World Wide Web Consortium focuses on scientific communication and electronic publishing. Considers the speed of communicating and disseminating information; quality issues; cost; library subscriptions; publishers; and risks and concerns, including the role of editors and reviewers or referees.…

  6. Another Interface: Electronic Publishing and Technical Services.

    Science.gov (United States)

    Yamamoto, Rumi

    1986-01-01

    Discusses the problems of assimilating electronic publishing within the technical services area of academic libraries: whether to consider electronic journals as acquisitions; how to catalog them; whether to charge users for access to them; and how to preserve online publications for future research. Future trends in electronic publishing are…

  7. Electronic Publishing: Introduction to This Issue.

    Science.gov (United States)

    Siegel, Martin A.

    1994-01-01

    Provides an overview of this special issue that addresses the possibilities and implications of electronic publishing and information dissemination as key components of effective education. Highlights include the theory and framework of electronic publishing; differences between electronic text and print; development of new educational materials;…

  8. PR Interval Associated Genes, Atrial Remodeling and Rhythm Outcome of Catheter Ablation of Atrial Fibrillation—A Gene-Based Analysis of GWAS Data

    Directory of Open Access Journals (Sweden)

    Daniela Husser

    2017-12-01

    Full Text Available Background: PR interval prolongation has recently been shown to associate with advanced left atrial remodeling and atrial fibrillation (AF recurrence after catheter ablation. While different genome-wide association studies (GWAS have implicated 13 loci to associate with the PR interval as an AF endophenotype their subsequent associations with AF remodeling and response to catheter ablation are unknown. Here, we perform a gene-based analysis of GWAS data to test the hypothesis that PR interval candidate genes also associate with left atrial remodeling and arrhythmia recurrence following AF catheter ablation.Methods and Results: Samples from 660 patients with paroxysmal (n = 370 or persistent AF (n = 290 undergoing AF catheter ablation were genotyped for ~1,000,000 SNPs. Gene-based association was investigated using VEGAS (versatile gene-based association study. Among the 13 candidate genes, SLC8A1, MEIS1, ITGA9, SCN5A, and SOX5 associated with the PR interval. Of those, ITGA9 and SOX5 were significantly associated with left atrial low voltage areas and left atrial diameter and subsequently with AF recurrence after radiofrequency catheter ablation.Conclusion: This study suggests contributions of ITGA9 and SOX5 to AF remodeling expressed as PR interval prolongation, low voltage areas and left atrial dilatation and subsequently to response to catheter ablation. Future and larger studies are necessary to replicate and apply these findings with the aim of designing AF pathophysiology-based multi-locus risk scores.

  9. Integration of liver gene co-expression networks and eGWAs analyses highlighted candidate regulators implicated in lipid metabolism in pigs.

    Science.gov (United States)

    Ballester, Maria; Ramayo-Caldas, Yuliaxis; Revilla, Manuel; Corominas, Jordi; Castelló, Anna; Estellé, Jordi; Fernández, Ana I; Folch, Josep M

    2017-04-19

    In the present study, liver co-expression networks and expression Genome Wide Association Study (eGWAS) were performed to identify DNA variants and molecular pathways implicated in the functional regulatory mechanisms of meat quality traits in pigs. With this purpose, the liver mRNA expression of 44 candidates genes related with lipid metabolism was analysed in 111 Iberian x Landrace backcross animals. The eGWAS identified 92 eSNPs located in seven chromosomal regions and associated with eight genes: CROT, CYP2U1, DGAT1, EGF, FABP1, FABP5, PLA2G12A, and PPARA. Remarkably, cis-eSNPs associated with FABP1 gene expression which may be determining the C18:2(n-6)/C18:3(n-3) ratio in backfat through the multiple interaction of DNA variants and genes were identified. Furthermore, a hotspot on SSC8 associated with the gene expression of eight genes was identified and the TBCK gene was pointed out as candidate gene regulating it. Our results also suggested that the PI3K-Akt-mTOR pathway plays an important role in the control of the analysed genes highlighting nuclear receptors as the NR3C1 or PPARA. Finally, sex-dimorphism associated with hepatic lipid metabolism was identified with over-representation of female-biased genes. These results increase our knowledge of the genetic architecture underlying fat composition traits.

  10. New journals for publishing medical case reports.

    Science.gov (United States)

    Akers, Katherine G

    2016-04-01

    Because they do not rank highly in the hierarchy of evidence and are not frequently cited, case reports describing the clinical circumstances of single patients are seldom published by medical journals. However, many clinicians argue that case reports have significant educational value, advance medical knowledge, and complement evidence-based medicine. Over the last several years, a vast number (∼160) of new peer-reviewed journals have emerged that focus on publishing case reports. These journals are typically open access and have relatively high acceptance rates. However, approximately half of the publishers of case reports journals engage in questionable or "predatory" publishing practices. Authors of case reports may benefit from greater awareness of these new publication venues as well as an ability to discriminate between reputable and non-reputable journal publishers.

  11. Open Access, data capitalism and academic publishing.

    Science.gov (United States)

    Hagner, Michael

    2018-02-16

    Open Access (OA) is widely considered a breakthrough in the history of academic publishing, rendering the knowledge produced by the worldwide scientific community accessible to all. In numerous countries, national governments, funding institutions and research organisations have undertaken enormous efforts to establish OA as the new publishing standard. The benefits and new perspectives, however, cause various challenges. This essay addresses several issues, including that OA is deeply embedded in the logic and practices of data capitalism. Given that OA has proven an attractive business model for commercial publishers, the key predictions of OA-advocates, namely that OA would liberate both scientists and tax payers from the chains of global publishing companies, have not become true. In its conclusion, the paper discusses the opportunities and pitfalls of non-commercial publishing.

  12. Exploring Digital News Publishing Business Models

    DEFF Research Database (Denmark)

    Lindskow, Kasper

    News publishers in the industrialized world are experiencing a fundamental challenge to their business models because of the changing modes of consumption, competition, and production of their offerings that are associated with the emergence of the networked information society. The erosion...... of the traditional business models poses an existential threat to news publishing and has given rise to a continuing struggle among news publishers to design digital business models that will be sustainable in the future. This dissertation argues that a central and underresearched aspect of digital news publishing...... business models concerns the production networks that support the co-production of digital news offerings. To fill this knowledge gap, this dissertation explores the strategic design of the digital news publishing production networks that are associated with HTML-based news offerings on the open Web...

  13. 77 FR 70176 - Previous Participation Certification

    Science.gov (United States)

    2012-11-23

    ... participants' previous participation in government programs and ensure that the past record is acceptable prior... information is designed to be 100 percent automated and digital submission of all data and certifications is... government programs and ensure that the past record is acceptable prior to granting approval to participate...

  14. On the Tengiz petroleum deposit previous study

    International Nuclear Information System (INIS)

    Nysangaliev, A.N.; Kuspangaliev, T.K.

    1997-01-01

    Tengiz petroleum deposit previous study is described. Some consideration about structure of productive formation, specific characteristic properties of petroleum-bearing collectors are presented. Recommendation on their detail study and using of experience on exploration and development of petroleum deposit which have analogy on most important geological and industrial parameters are given. (author)

  15. Subsequent pregnancy outcome after previous foetal death

    NARCIS (Netherlands)

    Nijkamp, J. W.; Korteweg, F. J.; Holm, J. P.; Timmer, A.; Erwich, J. J. H. M.; van Pampus, M. G.

    Objective: A history of foetal death is a risk factor for complications and foetal death in subsequent pregnancies as most previous risk factors remain present and an underlying cause of death may recur. The purpose of this study was to evaluate subsequent pregnancy outcome after foetal death and to

  16. Critical analysis of marketing in Croatian publishing

    Directory of Open Access Journals (Sweden)

    Silvija Gašparić

    2018-03-01

    Full Text Available Marketing is an inevitable part of today's modern lifestyle. The role that marketing plays is so big that it has become the most important part of business. Due to crisis that is still affecting publishers in Croatia, this paper emphasizes the power of advertising as a key ingredient in how to overcome this situation and upgrade the system of publishing in Croatia. The framework of the paper is based on marketing as a tool that leads to popularization of books and sales increase. Beside the experimental part which gives an insight into public's opinion about books, publishing and marketing, the first chapter gives the literature review and analysis conducted on the whole process of book publishing in Croatia with pointing out mistakes that Croatian publishers make. Also, benefits of foreign publishing will be mentioned and used for comparison and projection on to the problems of the native market. The aim of this analysis and this viewpoint paper is to contribute the comprehension of marketing strategies and activities and its use and gains in Croatian publishing.

  17. Navigating the heavy seas of online publishing

    DEFF Research Database (Denmark)

    Carpentier, Samuel; Dörry, Sabine; Lord, Sébastien

    2015-01-01

    Articulo – Journal of Urban Research celebrates its 10th anniversary! To celebrate this milestone, the current editors discuss the numerous changes and challenges related to publishing a peer-reviewed online journal. Since 2005, Articulo has progressively become more international, more professio......Articulo – Journal of Urban Research celebrates its 10th anniversary! To celebrate this milestone, the current editors discuss the numerous changes and challenges related to publishing a peer-reviewed online journal. Since 2005, Articulo has progressively become more international, more...... rough seas of online publishing in the future....

  18. Preparing and Publishing a Scientific Manuscript

    Directory of Open Access Journals (Sweden)

    Padma R Jirge

    2017-01-01

    Full Text Available Publishing original research in a peer-reviewed and indexed journal is an important milestone for a scientist or a clinician. It is an important parameter to assess academic achievements. However, technical and language barriers may prevent many enthusiasts from ever publishing. This review highlights the important preparatory steps for creating a good manuscript and the most widely used IMRaD (Introduction, Materials and Methods, Results, and Discussion method for writing a good manuscript. It also provides a brief overview of the submission and review process of a manuscript for publishing in a biomedical journal.

  19. [SciELO: method for electronic publishing].

    Science.gov (United States)

    Laerte Packer, A; Rocha Biojone, M; Antonio, I; Mayumi Takemaka, R; Pedroso García, A; Costa da Silva, A; Toshiyuki Murasaki, R; Mylek, C; Carvalho Reisl, O; Rocha F Delbucio, H C

    2001-01-01

    It describes the SciELO Methodology Scientific Electronic Library Online for electronic publishing of scientific periodicals, examining issues such as the transition from traditional printed publication to electronic publishing, the scientific communication process, the principles which founded the methodology development, its application in the building of the SciELO site, its modules and components, the tools use for its construction etc. The article also discusses the potentialities and trends for the area in Brazil and Latin America, pointing out questions and proposals which should be investigated and solved by the methodology. It concludes that the SciELO Methodology is an efficient, flexible and wide solution for the scientific electronic publishing.

  20. Open Access Publishing in the Electronic Age.

    Science.gov (United States)

    Kovács, Gábor L

    2014-10-01

    The principle of open-access (OA) publishing is more and more prevalent also on the field of laboratory medicine. Open-access journals (OAJs) are available online to the reader usually without financial, legal, or technical barriers. Some are subsidized, and some require payment on behalf of the author. OAJs are one of the two general methods for providing OA. The other one is self-archiving in a repository. The electronic journal of the IFCC (eJIFCC) is a platinum OAJ- i.e. there is no charge to read, or to submit to this journal. Traditionally, the author was required to transfer the copyright to the journal publisher. Publishers claimed this was necessary in order to protect author's rights. However, many authors found this unsatisfactory, and have used their influence to affect a gradual move towards a license to publish instead. Under such a system, the publisher has permission to edit, print, and distribute the article commercially, but the author(s) retain the other rights themselves. An OA mandate is a policy adopted by a research institution, research funder, or government which requires researchers to make their published, peer-reviewed journal articles and conference papers OA by self-archiving their peer-reviewed drafts in a repository ("green OA") or by publishing them in an OAJ ("gold OA"). Creative Commons (CC) is a nonprofit organization that enables the sharing and use of creativity and knowledge through free legal tools. The free, easy-to-use copyright licenses provide a simple, standardized way to give the public permission to share and use creative work. CC licenses let you easily change your copyright terms from the default of "all rights reserved" to "some rights reserved." OA publishing also raises a number of new ethical problems (e.g. predatory publishers, fake papers). Laboratory scientists are encouraged to publish their scientific results OA (especially in eJIFCC). They should, however, be aware of their rights, institutional mandate

  1. Subsequent childbirth after a previous traumatic birth.

    Science.gov (United States)

    Beck, Cheryl Tatano; Watson, Sue

    2010-01-01

    Nine percent of new mothers in the United States who participated in the Listening to Mothers II Postpartum Survey screened positive for meeting the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for posttraumatic stress disorder after childbirth. Women who have had a traumatic birth experience report fewer subsequent children and a longer length of time before their second baby. Childbirth-related posttraumatic stress disorder impacts couples' physical relationship, communication, conflict, emotions, and bonding with their children. The purpose of this study was to describe the meaning of women's experiences of a subsequent childbirth after a previous traumatic birth. Phenomenology was the research design used. An international sample of 35 women participated in this Internet study. Women were asked, "Please describe in as much detail as you can remember your subsequent pregnancy, labor, and delivery following your previous traumatic birth." Colaizzi's phenomenological data analysis approach was used to analyze the stories of the 35 women. Data analysis yielded four themes: (a) riding the turbulent wave of panic during pregnancy; (b) strategizing: attempts to reclaim their body and complete the journey to motherhood; (c) bringing reverence to the birthing process and empowering women; and (d) still elusive: the longed-for healing birth experience. Subsequent childbirth after a previous birth trauma has the potential to either heal or retraumatize women. During pregnancy, women need permission and encouragement to grieve their prior traumatic births to help remove the burden of their invisible pain.

  2. 18th International Conference on Electronic Publishing

    CERN Document Server

    Dobreva, Milena

    2014-01-01

    The ways in which research data is used and handled continue to capture public attention and are the focus of increasing interest. Electronic publishing is intrinsic to digital data management, and relevant to the fields of data mining, digital publishing and social networks, with their implications for scholarly communication, information services, e-learning, e-business and the cultural heritage sector. This book presents the proceedings of the 18th International Conference on Electronic Publishing (ELPUB), held in Thessaloniki, Greece, in June 2014. The conference brings together researchers and practitioners to discuss the many aspects of electronic publishing, and the theme this year is 'Let's put data to use: digital scholarship for the next generation'. As well as examining the role of cultural heritage and service organisations in the creation, accessibility, duration and long-term preservation of data, it provides a discussion forum for the appraisal, citation and licensing of research data and the n...

  3. Predatory publishing and cybercrime targeting academics.

    Science.gov (United States)

    Umlauf, Mary Grace; Mochizuki, Yuki

    2018-04-01

    The purpose of this report is to inform and warn academics about practices used by cybercriminals who seek to profit from unwary scholars and undermine the industry of science. This report describes the signs, symptoms, characteristics, and consequences of predatory publishing and related forms of consumer fraud. Methods to curb these cybercrimes include educating scholars and students about tactics used by predatory publishers; institutional changes in how faculty are evaluated using publications; soliciting cooperation from the industries that support academic publishing and indexing to curb incorporation of illegitimate journals; and taking an offensive position by reporting these consumer fraud crimes to the authorities. Over and above the problem of publishing good science in fraudulent journals, disseminating and citing poor-quality research threaten the credibility of science and of nursing. © 2018 John Wiley & Sons Australia, Ltd.

  4. Design Options for a Desktop Publishing Course.

    Science.gov (United States)

    Mayer, Kenneth R.; Nelson, Sandra J.

    1992-01-01

    Offers recommendations for development of an undergraduate desktop publishing course. Discusses scholastic level and prerequisites, purpose and objectives, instructional resources and methodology, assignments and evaluation, and a general course outline. (SR)

  5. Open Access publishing in physics gains momentum

    CERN Multimedia

    2006-01-01

    The first meeting of European particle physics funding agencies took place on 3 November at CERN to establish a consortium for Open Access publishing in particle physics, SCOAP3 (Sponsoring Consortium for Open Access Publishing in Particle Physics). Open Access could transform the academic publishing world, with a great impact on research. The traditional model of research publication is funded through reader subscriptions. Open Access will turn this model on its head by changing the funding structure of research results, without increasing the overall cost of publishing. Instead of demanding payment from readers, publications will be distributed free of charge, financed by funding agencies via laboratories and the authors. This new concept will bring greater benefits and broaden opportunities for researchers and funding agencies by providing unrestricted distribution of the results of publicly funded research. The meeting marked a positive step forward, with international support from laboratories, fundin...

  6. INNOVATION MANAGEMENT TOOLS IN PUBLISHING COMPANIES

    Directory of Open Access Journals (Sweden)

    A. Shegda

    2013-09-01

    Full Text Available This article is devoted to the highly topical issue of modern publishing business as innovation management. introduction of technological innovation, measured as a promising strategy for the development of a constructive industry. The paper deals with main problems in managing of publishing companies. The reference consider of innovation management tools. In the article are exams the problems of books trend decline which require publishers introducing innovative methods of production and distribution. It was found that while the tools can be used. The process of innovation management with the following basic tools like as marketing innovation bench marketing, franchising, engineering innovation. It was found that while the tools can be used. So, the aim of the article is to analyze the modern tools of innovation management in the publishing field.

  7. Monitoring Information By Industry - Printing and Publishing

    Science.gov (United States)

    Stationary source emissions monitoring is required to demonstrate that a source is meeting the requirements in Federal or state rules. This page is about control techniques used to reduce pollutant emissions in the printing and publishing industry.

  8. Printing and Publishing Industry Training Board

    Science.gov (United States)

    Industrial Training International, 1974

    1974-01-01

    Accounted is the supervisory training program currently in operation in the printing and publishing industry. The purpose of the training program is to increase managerial efficiency and to better prepare new supervisors. (DS)

  9. NSA Diana Wueger Published in Washington Quarterly

    OpenAIRE

    Grant, Catherine L.

    2016-01-01

    National Security Affairs (NSA) News NSA Faculty Associate for Research Diana Wueger has recently had an article titled “India’s Nuclear-Armed Submarines: Deterrence or Danger?” published in the Washington Quarterly.

  10. Decentralized provenance-aware publishing with nanopublications

    Directory of Open Access Journals (Sweden)

    Tobias Kuhn

    2016-08-01

    Full Text Available Publication and archival of scientific results is still commonly considered the responsability of classical publishing companies. Classical forms of publishing, however, which center around printed narrative articles, no longer seem well-suited in the digital age. In particular, there exist currently no efficient, reliable, and agreed-upon methods for publishing scientific datasets, which have become increasingly important for science. In this article, we propose to design scientific data publishing as a web-based bottom-up process, without top-down control of central authorities such as publishing companies. Based on a novel combination of existing concepts and technologies, we present a server network to decentrally store and archive data in the form of nanopublications, an RDF-based format to represent scientific data. We show how this approach allows researchers to publish, retrieve, verify, and recombine datasets of nanopublications in a reliable and trustworthy manner, and we argue that this architecture could be used as a low-level data publication layer to serve the Semantic Web in general. Our evaluation of the current network shows that this system is efficient and reliable.

  11. Electronic astronomical information handling and flexible publishing.

    Science.gov (United States)

    Heck, A.

    The current dramatic evolution in information technology is bringing major modifications in the way scientists work and communicate. The concept of electronic information handling encompasses the diverse types of information, the different media, as well as the various communication methodologies and technologies. It ranges from the very collection of data until the final publication of results and sharing of knowledge. New problems and challenges result also from the new information culture, especially on legal, ethical, and educational grounds. Electronic publishing will have to diverge from an electronic version of contributions on paper and will be part of a more general flexible-publishing policy. The benefits of private publishing are questioned. The procedures for validating published material and for evaluating scientific activities will have to be adjusted too. Provision of electronic refereed information independently from commercial publishers in now feasible. Scientists and scientific institutions have now the possibility to run an efficient information server with validated (refereed) material without the help of a commercial publishers.

  12. Electronic publishing and Acupuncture in Medicine.

    Science.gov (United States)

    White, Adrian

    2006-09-01

    The internet has fundamentally altered scientific publishing; this article discusses current models and how they affect this journal. The greatest innovation is a new range of open access journals published only on the internet, aimed at rapid publication and universal access. In most cases authors pay a publication charge for the overhead costs of the journal. Journals that are published by professional organisations primarily for their members have some functions other than publishing research, including clinical articles, conference reports and news items. A small number of these journals are permitting open access to their research reports. Commercial science publishing still exists, where profit for shareholders provides motivation in addition to the desire to spread knowledge for the benefit of all. A range of electronic databases now exists that offer various levels of listing and searching. Some databases provide direct links to journal articles, such as the LinkOut scheme in PubMed. Acupuncture in Medicine will continue to publish in paper format; all research articles will be available on open access, but non-subscribers will need to pay for certain other articles for the first 12 months after publication. All Acupuncture in Medicine articles will in future be included in the LinkOut scheme, and be presented to the databases electronically.

  13. Investigation of previously implicated genetic variants in chronic tic disorders

    DEFF Research Database (Denmark)

    Abdulkadir, Mohamed; Londono, Douglas; Gordon, Derek

    2017-01-01

    with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were......Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412...... families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results...

  14. Analysis of thirteen predatory publishers: a trap for eager-to-publish researchers.

    Science.gov (United States)

    Bolshete, Pravin

    2018-01-01

    To demonstrate a strategy employed by predatory publishers to trap eager-to-publish authors or researchers into submitting their work. This was a case study of 13 potential, possible, or probable predatory scholarly open-access publishers with similar characteristics. Eleven publishers were included from Beall's list and two additional publishers were identified from a Google web search. Each publisher's site was visited and its content analyzed. Publishers publishing biomedical journals were further explored and additional data was collected regarding their volumes, details of publications and editorial-board members. Overall, the look and feel of all 13 publishers was similar including names of publishers, website addresses, homepage content, homepage images, list of journals and subject areas, as if they were copied and pasted. There were discrepancies in article-processing charges within the publishers. None of the publishers identified names in their contact details and primarily included only email addresses. Author instructions were similar across all 13 publishers. Most publishers listed journals of varied subject areas including biomedical journals (12 publishers) covering different geographic locations. Most biomedical journals published none or very few articles. The highest number of articles published by any single biomedical journal was 28. Several editorial-board members were listed across more than one journals, with one member listed 81 times in different 69 journals (i.e. twice in 12 journals). There was a strong reason to believe that predatory publishers may have several publication houses with different names under a single roof to trap authors from different geographic locations.

  15. Recently Published Lectures and Tutorials for ATLAS

    CERN Multimedia

    J. Herr

    2006-01-01

    As reported in the September 2004 ATLAS eNews, the Web Lecture Archive Project, a collaboration between the University of Michigan and CERN, has developed a synchronized system for recording and publishing educational multimedia presentations, using the Web as medium. The current system, including future developments for the project and the field in general, was recently presented at the CHEP 2006 conference in Mumbai, India. The relevant presentations and papers can be found here: The Web Lecture Archive Project A Web Lecture Capture System with Robotic Speaker Tracking This year, the University of Michigan team has been asked to record and publish all ATLAS Plenary sessions, as well as a large number of Physics and Computing tutorials. A significant amount of this material has already been published and can be accessed via the links below. All lectures can be viewed on any major platform with any common internet browser, either via streaming or local download (for limited bandwidth). Please enjoy the l...

  16. Recently Published Lectures and Tutorials for ATLAS

    CERN Multimedia

    Goldfarb, S.

    2006-01-01

    As reported in the September 2004 ATLAS eNews, the Web Lecture Archive Project, WLAP, a collaboration between the University of Michigan and CERN, has developed a synchronized system for recording and publishing educational multimedia presentations, using the Web as medium. The current system, including future developments for the project and the field in general, was recently presented at the CHEP 2006 conference in Mumbai, India. The relevant presentations and papers can be found here: The Web Lecture Archive Project. A Web Lecture Capture System with Robotic Speaker Tracking This year, the University of Michigan team has been asked to record and publish all ATLAS Plenary sessions, as well as a large number of Physics and Computing tutorials. A significant amount of this material has already been published and can be accessed via the links below. All lectures can be viewed on any major platform with any common internet browser, either via streaming or local download (for limited bandwidth). Please e...

  17. Electronic Publishing or Electronic Information Handling?

    Science.gov (United States)

    Heck, A.

    The current dramatic evolution in information technology is bringing major modifications in the way scientists communicate. The concept of 'electronic publishing' is too restrictive and has often different, sometimes conflicting, interpretations. It is thus giving way to the broader notion of 'electronic information handling' encompassing the diverse types of information, the different media, as well as the various communication methodologies and technologies. New problems and challenges result also from this new information culture, especially on legal, ethical, and educational grounds. The procedures for validating 'published material' and for evaluating scientific activities will have to be adjusted too. 'Fluid' information is becoming a common concept. Electronic publishing cannot be conceived without link to knowledge bases nor without intelligent information retrieval tools.

  18. Electronic publishing and intelligent information retrieval

    Science.gov (United States)

    Heck, A.

    1992-01-01

    Europeans are now taking steps to homogenize policies and standardize procedures in electronic publishing (EP) in astronomy and space sciences. This arose from an open meeting organized in Oct. 1991 at Strasbourg Observatory (France) and another business meeting held late Mar. 1992 with the major publishers and journal editors in astronomy and space sciences. The ultimate aim of EP might be considered as the so-called 'intelligent information retrieval' (IIR) or better named 'advanced information retrieval' (AIR), taking advantage of the fact that the material to be published appears at some stage in a machine-readable form. It is obvious that the combination of desktop and electronic publishing with networking and new structuring of knowledge bases will profoundly reshape not only our ways of publishing, but also our procedures of communicating and retrieving information. It should be noted that a world-wide survey among astronomers and space scientists carried out before the October 1991 colloquium on the various packages and machines used, indicated that TEX-related packages were already in majoritarian use in our community. It has also been stressed at each meeting that the European developments should be carried out in collaboration with what is done in the US (STELLAR project, for instance). American scientists and journal editors actually attended both meetings mentioned above. The paper will offer a review of the status of electronic publishing in astronomy and its possible contribution to advanced information retrieval in this field. It will also report on recent meetings such as the 'Astronomy from Large Databases-2 (ALD-2)' conference dealing with the latest developments in networking, in data, information, and knowledge bases, as well as in the related methodologies.

  19. Introduction to scientific publishing backgrounds, concepts, strategies

    CERN Document Server

    Öchsner, Andreas

    2013-01-01

    This book is a very concise introduction to the basic knowledge of scientific publishing. It  starts with the basics of writing a scientific paper, and recalls the different types of scientific documents. In gives an overview on the major scientific publishing companies and different business models. The book also introduces to abstracting and indexing services and how they can be used for the evaluation of science, scientists, and institutions. Last but not least, this short book faces the problem of plagiarism and publication ethics.

  20. Publishing activities improves undergraduate biology education.

    Science.gov (United States)

    Smith, Michelle K

    2018-06-01

    To improve undergraduate biology education, there is an urgent need for biology instructors to publish their innovative active-learning instructional materials in peer-reviewed journals. To do this, instructors can measure student knowledge about a variety of biology concepts, iteratively design activities, explore student learning outcomes and publish the results. Creating a set of well-vetted activities, searchable through a journal interface, saves other instructors time and encourages the use of active-learning instructional practices. For authors, these publications offer new opportunities to collaborate and can provide evidence of a commitment to using active-learning instructional techniques in the classroom.

  1. Publishing to become an 'ideal academic'

    DEFF Research Database (Denmark)

    Lund, Rebecca

    2012-01-01

    over a two-year period in a recently merged Finnish university. I focus specifically on how a translocal discourse of competitive performance measurement and standards of academic excellence are accomplished in the local construction of the “ideal academic” as a person who publishes articles in A level...... journals. While the construct is hard for anyone to live up to, it would seem to be more difficult for some people than for others. The current obsession with getting published in top journals place those women, who are heavily engaged in teaching activities and with responsibilities besides academic work...

  2. Advances in semantic authoring and publishing

    CERN Document Server

    Groza, T

    2012-01-01

    Dissemination can be seen as a communication process between scientists. Over the course of several publications, they expose and support their findings, while discussing stated claims. Such discourse structures are trapped within the content of the publications, thus making the semantics discoverable only by humans. In addition, the lack of advances in scientific publishing, where electronic publications are still used as simple projections of paper documents, combined with the current growth in the amount of scientific research being published, transforms the process of finding relevant lite

  3. Publish Subscribe Systems Design and Principles

    CERN Document Server

    Tarkoma, Sasu

    2012-01-01

    This book offers an unified treatment of the problems solved by publish/subscribe, how to design and implement the solutions In this book, the author provides an insight into the publish/subscribe technology including the design, implementation, and evaluation of new systems based on the technology.  The book also addresses the basic design patterns and solutions, and discusses their application in practical application scenarios. Furthermore, the author examines current standards and industry best practices as well as recent research proposals in the area. Finally, necessary content ma

  4. Scholarly publishing depends on peer reviewers.

    Science.gov (United States)

    Fernandez-Llimos, Fernando

    2018-01-01

    The peer-review crisis is posing a risk to the scholarly peer-reviewed journal system. Journals have to ask many potential peer reviewers to obtain a minimum acceptable number of peers accepting reviewing a manuscript. Several solutions have been suggested to overcome this shortage. From reimbursing for the job, to eliminating pre-publication reviews, one cannot predict which is more dangerous for the future of scholarly publishing. And, why not acknowledging their contribution to the final version of the article published? PubMed created two categories of contributors: authors [AU] and collaborators [IR]. Why not a third category for the peer-reviewer?

  5. Scholarly publishing depends on peer reviewers

    Directory of Open Access Journals (Sweden)

    Fernandez-Llimos F

    2018-03-01

    Full Text Available The peer-review crisis is posing a risk to the scholarly peer-reviewed journal system. Journals have to ask many potential peer reviewers to obtain a minimum acceptable number of peers accepting reviewing a manuscript. Several solutions have been suggested to overcome this shortage. From reimbursing for the job, to eliminating pre-publication reviews, one cannot predict which is more dangerous for the future of scholarly publishing. And, why not acknowledging their contribution to the final version of the article published? PubMed created two categories of contributors: authors [AU] and collaborators [IR]. Why not a third category for the peer-reviewer?

  6. [Trends of electronic publishing in medicine and life sciences].

    Science.gov (United States)

    Strelski-Waisman, Neta; Waisman, Dan

    2005-09-01

    Scientific publication in the electronic media is gaining popularity in academic libraries, research institutions and commercial organizations. The electronic journal may shorten the processes of writing and publication, decrease publication and distribution costs, and enable access from any location in the world. Electronic publications have unique advantages: it is possible to search them, to create hyperlinks to references and footnotes, as well as to information on the web and to include graphics and photographs at a very low cost. Audio, video and tri-dimensional images may also be included. Electronic publishing may also speed up review and publication processes and enable the writer to receive immediate feedback through the web. However, in spite of the advantages, there are certain points that must be considered: accessibility to previously published material is not guaranteed as databases are not always stable and coverage may change without notice. In addition, the price that commercial publishers charge for their services may be very high or be subject to the purchase of a packaged deal that may include unwanted databases. Many issues of copyright and the use of published material are not yet finalized. In this review we discuss the advantages and disadvantages of the electronic scientific publication, the feasibility of keeping appropriate quality and peer-review process, the stability and accessibility of databases managed by the publishers and the acceptance of the electronic format by scientists and clinicians.

  7. Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk.

    Science.gov (United States)

    Kar, Siddhartha P; Tyrer, Jonathan P; Li, Qiyuan; Lawrenson, Kate; Aben, Katja K H; Anton-Culver, Hoda; Antonenkova, Natalia; Chenevix-Trench, Georgia; Baker, Helen; Bandera, Elisa V; Bean, Yukie T; Beckmann, Matthias W; Berchuck, Andrew; Bisogna, Maria; Bjørge, Line; Bogdanova, Natalia; Brinton, Louise; Brooks-Wilson, Angela; Butzow, Ralf; Campbell, Ian; Carty, Karen; Chang-Claude, Jenny; Chen, Yian Ann; Chen, Zhihua; Cook, Linda S; Cramer, Daniel; Cunningham, Julie M; Cybulski, Cezary; Dansonka-Mieszkowska, Agnieszka; Dennis, Joe; Dicks, Ed; Doherty, Jennifer A; Dörk, Thilo; du Bois, Andreas; Dürst, Matthias; Eccles, Diana; Easton, Douglas F; Edwards, Robert P; Ekici, Arif B; Fasching, Peter A; Fridley, Brooke L; Gao, Yu-Tang; Gentry-Maharaj, Aleksandra; Giles, Graham G; Glasspool, Rosalind; Goode, Ellen L; Goodman, Marc T; Grownwald, Jacek; Harrington, Patricia; Harter, Philipp; Hein, Alexander; Heitz, Florian; Hildebrandt, Michelle A T; Hillemanns, Peter; Hogdall, Estrid; Hogdall, Claus K; Hosono, Satoyo; Iversen, Edwin S; Jakubowska, Anna; Paul, James; Jensen, Allan; Ji, Bu-Tian; Karlan, Beth Y; Kjaer, Susanne K; Kelemen, Linda E; Kellar, Melissa; Kelley, Joseph; Kiemeney, Lambertus A; Krakstad, Camilla; Kupryjanczyk, Jolanta; Lambrechts, Diether; Lambrechts, Sandrina; Le, Nhu D; Lee, Alice W; Lele, Shashi; Leminen, Arto; Lester, Jenny; Levine, Douglas A; Liang, Dong; Lissowska, Jolanta; Lu, Karen; Lubinski, Jan; Lundvall, Lene; Massuger, Leon; Matsuo, Keitaro; McGuire, Valerie; McLaughlin, John R; McNeish, Iain A; Menon, Usha; Modugno, Francesmary; Moysich, Kirsten B; Narod, Steven A; Nedergaard, Lotte; Ness, Roberta B; Nevanlinna, Heli; Odunsi, Kunle; Olson, Sara H; Orlow, Irene; Orsulic, Sandra; Weber, Rachel Palmieri; Pearce, Celeste Leigh; Pejovic, Tanja; Pelttari, Liisa M; Permuth-Wey, Jennifer; Phelan, Catherine M; Pike, Malcolm C; Poole, Elizabeth M; Ramus, Susan J; Risch, Harvey A; Rosen, Barry; Rossing, Mary Anne; Rothstein, Joseph H; Rudolph, Anja; Runnebaum, Ingo B; Rzepecka, Iwona K; Salvesen, Helga B; Schildkraut, Joellen M; Schwaab, Ira; Shu, Xiao-Ou; Shvetsov, Yurii B; Siddiqui, Nadeem; Sieh, Weiva; Song, Honglin; Southey, Melissa C; Sucheston-Campbell, Lara E; Tangen, Ingvild L; Teo, Soo-Hwang; Terry, Kathryn L; Thompson, Pamela J; Timorek, Agnieszka; Tsai, Ya-Yu; Tworoger, Shelley S; van Altena, Anne M; Van Nieuwenhuysen, Els; Vergote, Ignace; Vierkant, Robert A; Wang-Gohrke, Shan; Walsh, Christine; Wentzensen, Nicolas; Whittemore, Alice S; Wicklund, Kristine G; Wilkens, Lynne R; Woo, Yin-Ling; Wu, Xifeng; Wu, Anna; Yang, Hannah; Zheng, Wei; Ziogas, Argyrios; Sellers, Thomas A; Monteiro, Alvaro N A; Freedman, Matthew L; Gayther, Simon A; Pharoah, Paul D P

    2015-10-01

    Genome-wide association studies (GWAS) have so far reported 12 loci associated with serous epithelial ovarian cancer (EOC) risk. We hypothesized that some of these loci function through nearby transcription factor (TF) genes and that putative target genes of these TFs as identified by coexpression may also be enriched for additional EOC risk associations. We selected TF genes within 1 Mb of the top signal at the 12 genome-wide significant risk loci. Mutual information, a form of correlation, was used to build networks of genes strongly coexpressed with each selected TF gene in the unified microarray dataset of 489 serous EOC tumors from The Cancer Genome Atlas. Genes represented in this dataset were subsequently ranked using a gene-level test based on results for germline SNPs from a serous EOC GWAS meta-analysis (2,196 cases/4,396 controls). Gene set enrichment analysis identified six networks centered on TF genes (HOXB2, HOXB5, HOXB6, HOXB7 at 17q21.32 and HOXD1, HOXD3 at 2q31) that were significantly enriched for genes from the risk-associated end of the ranked list (P < 0.05 and FDR < 0.05). These results were replicated (P < 0.05) using an independent association study (7,035 cases/21,693 controls). Genes underlying enrichment in the six networks were pooled into a combined network. We identified a HOX-centric network associated with serous EOC risk containing several genes with known or emerging roles in serous EOC development. Network analysis integrating large, context-specific datasets has the potential to offer mechanistic insights into cancer susceptibility and prioritize genes for experimental characterization. ©2015 American Association for Cancer Research.

  8. Genome-Wide Association Study (GWAS) and Genome-Wide Environment Interaction Study (GWEIS) of Depressive Symptoms in African American and Hispanic/Latina Women

    Science.gov (United States)

    Dunn, Erin C.; Wiste, Anna; Radmanesh, Farid; Almli, Lynn M.; Gogarten, Stephanie M.; Sofer, Tamar; Faul, Jessica D.; Kardia, Sharon L.R.; Smith, Jennifer A.; Weir, David R.; Zhao, Wei; Soare, Thomas W.; Mirza, Saira S.; Hek, Karin; Tiemeier, Henning W.; Goveas, Joseph S.; Sarto, Gloria E.; Snively, Beverly M.; Cornelis, Marilyn; Koenen, Karestan C.; Kraft, Peter; Purcell, Shaun; Ressler, Kerry J.; Rosand, Jonathan; Wassertheil-Smoller, Sylvia; Smoller, Jordan W.

    2016-01-01

    Background Genome-wide association studies (GWAS) have been unable to identify variants linked to depression. We hypothesized that examining depressive symptoms and considering gene-environment interaction (G×E) might improve efficiency for gene discovery. We therefore conducted a GWAS and genome-wide environment interaction study (GWEIS) of depressive symptoms. Methods Using data from the SHARe cohort of the Women’s Health Initiative, comprising African Americans (n=7179) and Hispanics/Latinas (n=3138), we examined genetic main effects and G×E with stressful life events and social support. We also conducted a heritability analysis using genome-wide complex trait analysis (GCTA). Replication was attempted in four independent cohorts. Results No SNPs achieved genome-wide significance for main effects in either discovery sample. The top signals in African Americans were rs73531535 (located 20kb from GPR139, p=5.75×10−8) and rs75407252 (intronic to CACNA2D3, p=6.99×10−7). In Hispanics/Latinas, the top signals were rs2532087 (located 27kb from CD38, p=2.44×10−7) and rs4542757 (intronic to DCC, p=7.31×10−7). In the GWEIS with stressful life events, one interaction signal was genome-wide significant in African Americans (rs4652467; p=4.10×10−10; located 14kb from CEP350). This interaction was not observed in a smaller replication cohort. Although heritability estimates for depressive symptoms and stressful life events were each less than 10%, they were strongly genetically correlated (rG=0.95), suggesting that common variation underlying depressive symptoms and stressful life event exposure, though modest on their own, were highly overlapping in this sample. Conclusions Our results underscore the need for larger samples, more GWEIS, and greater investigation into genetic and environmental determinants of depressive symptoms in minorities. PMID:27038408

  9. Educational Systems Design Implications of Electronic Publishing.

    Science.gov (United States)

    Romiszowski, Alexander J.

    1994-01-01

    Discussion of electronic publishing focuses on the four main purposes of media in general: communication, entertainment, motivation, and education. Highlights include electronic journals and books; hypertext; user control; computer graphics and animation; electronic games; virtual reality; multimedia; electronic performance support;…

  10. Hypertext Publishing and the Revitalization of Knowledge.

    Science.gov (United States)

    Louie, Steven; Rubeck, Robert F.

    1989-01-01

    Discusses the use of hypertext for publishing and other document control activities in higher education. Topics discussed include a model of hypertext, called GUIDE, that is used at the University of Arizona Medical School; the increase in the number of scholarly publications; courseware development by faculty; and artificial intelligence. (LRW)

  11. Open Access Publishing in Particle Physics

    CERN Document Server

    2007-01-01

    Particle Physics, often referred to as High Energy Physics (HEP), spearheaded the Open Access dissemination of scientific results with the mass mailing of preprints in the pre-Web era and with the launch of the arXiv preprint system at the dawn of the '90s. The HEP community is now ready for a further push to Open Access while retaining all the advantages of the peerreview system and, at the same time, bring the spiralling cost of journal subscriptions under control. I will present a plan for the conversion to Open Access of HEP peer-reviewed journals, through a consortium of HEP funding agencies, laboratories and libraries: SCOAP3 (Sponsoring Consortium for Open Access Publishing in Particle Physics). SCOAP3 will engage with scientific publishers towards building a sustainable model for Open Access publishing, which is as transparent as possible for HEP authors. The current system in which journals income comes from subscription fees is replaced with a scheme where SCOAP3 compensates publishers for the costs...

  12. Publishing Qualitative Research in Counseling Journals

    Science.gov (United States)

    Hunt, Brandon

    2011-01-01

    This article focuses on the essential elements to be included when developing a qualitative study and preparing the findings for publication. Using the sections typically found in a qualitative article, the author describes content relevant to each section, with additional suggestions for publishing qualitative research.

  13. Publisher Correction: Geometric constraints during epithelial jamming

    Science.gov (United States)

    Atia, Lior; Bi, Dapeng; Sharma, Yasha; Mitchel, Jennifer A.; Gweon, Bomi; Koehler, Stephan A.; DeCamp, Stephen J.; Lan, Bo; Kim, Jae Hun; Hirsch, Rebecca; Pegoraro, Adrian F.; Lee, Kyu Ha; Starr, Jacqueline R.; Weitz, David A.; Martin, Adam C.; Park, Jin-Ah; Butler, James P.; Fredberg, Jeffrey J.

    2018-06-01

    In the version of this Article originally published, the Supplementary Movies were linked to the wrong descriptions. These have now been corrected. Additionally, the authors would like to note that co-authors James P. Butler and Jeffrey J. Fredberg contributed equally to this Article; this change has now been made.

  14. Doing Publishable Research with Undergraduate Students

    Science.gov (United States)

    Fenn, Aju J.; Johnson, Daniel K. N.; Smith, Mark Griffin; Stimpert, J. L.

    2010-01-01

    Many economics majors write a senior thesis. Although this experience can be the pinnacle of their education, publication is not the common standard for undergraduates. The authors describe four approaches that have allowed students to get their work published: (1) identify a topic, such as competitive balance in sports, and have students work on…

  15. Desktop publishing: a useful tool for scientists.

    Science.gov (United States)

    Lindroth, J R; Cooper, G; Kent, R L

    1994-01-01

    Desktop publishing offers features that are not available in word processing programs. The process yields an impressive and professional-looking document that is legible and attractive. It is a simple but effective tool to enhance the quality and appearance of your work and perhaps also increase your productivity.

  16. Desktop Publishing as a Learning Resources Service.

    Science.gov (United States)

    Drake, David

    In late 1988, Midland College in Texas implemented a desktop publishing service to produce instructional aids and reduce and complement the workload of the campus print shop. The desktop service was placed in the Media Services Department of the Learning Resource Center (LRC) for three reasons: the LRC was already established as a campus-wide…

  17. Desktop Publishing: Things Gutenberg Never Taught You.

    Science.gov (United States)

    Bowman, Joel P.; Renshaw, Debbie A.

    1989-01-01

    Provides a desktop publishing (DTP) overview, including: advantages and disadvantages; hardware and software requirements; and future development. Discusses cost-effectiveness, confidentiality, credibility, effects on volume of paper-based communication, and the need for training in layout and design which DTP creates. Includes a glossary of DTP…

  18. Basics of Desktop Publishing. Teacher Edition.

    Science.gov (United States)

    Beeby, Ellen

    This color-coded teacher's guide contains curriculum materials designed to give students an awareness of various desktop publishing techniques before they determine their computer hardware and software needs. The guide contains six units, each of which includes some or all of the following basic components: objective sheet, suggested activities…

  19. Reconfiguration Service for Publish/Subscribe Middleware

    NARCIS (Netherlands)

    Zieba, Bogumil; Glandrup, Maurice; van Sinderen, Marten J.; Wegdam, M.

    2006-01-01

    Mission-critical, distributed systems are often designed as a set of distributed, components that interact using publish/subscribe middleware. Currently, in these systems, software components are usually statically allocated to the nodes to fulfil predictability, reliability requirements. However, a

  20. Awareness and Perceptions of Published Osteoporosis Clinical ...

    African Journals Online (AJOL)

    Awareness and Perceptions of Published Osteoporosis Clinical Guidelines-a Survey of Primary Care Practitioners in the Cape Town Metropolitan Area. ... Further attention needs to be focused on developing implementation and dissemination strategies of evidence-based guidelines in South Africa. South African Journal of ...

  1. Librarians and Libraries Supporting Open Access Publishing

    Science.gov (United States)

    Richard, Jennifer; Koufogiannakis, Denise; Ryan, Pam

    2009-01-01

    As new models of scholarly communication emerge, librarians and libraries have responded by developing and supporting new methods of storing and providing access to information and by creating new publishing support services. This article will examine the roles of libraries and librarians in developing and supporting open access publishing…

  2. 12 CFR 271.3 - Published information.

    Science.gov (United States)

    2010-01-01

    ... preceding year upon all matters of policy relating to open market operations, showing the reasons underlying... information relating to open market operations of the Federal Reserve Banks is published in the Federal... Banks and Banking FEDERAL RESERVE SYSTEM (CONTINUED) FEDERAL OPEN MARKET COMMITTEE RULES REGARDING...

  3. Electronic Publishing and The American Astronomical Society

    Science.gov (United States)

    Milkey, R. W.

    1999-12-01

    Electronic Publishing has created, and will continue to create, new opportunities and challenges for representing scientific work in new media and formats. The AAS will position itself to take advantage of these, both for newly created works and for improved representation of works already published. It is the view of the AAS that we hold the works that we publish in trust for our community and are obligated to protect the integrity of these works and to assure that they continue to be available to the research community. Assignment of copyright to the AAS by the author plays a central role in the preservation of the integrity and accessability of the literature published by the American Astronomical Society. In return for such assignment the AAS allows the author to freely use the work for his/her own purpose and to control the grant of permission to third parties to use such materials. The AAS retains the right to republish the work in whatever format or medium, and to retain the rights after the author's death. Specific advantages to this approach include: Assurance of the continued availability of the materials to the research and educational communities; A guarantee of the intellectual integrity of the materials in the archive; Stimulation of the development of new means of presentation or of access to the archival literature; and Provision of a uniformity of treatment for copyright issues and to relieve the individual authors of much of the administrative work.

  4. Open access publishing in physics gains momentum

    CERN Multimedia

    2006-01-01

    "The first meeting of European particle physics funding agencies took place today at CERN to establish a consortium for Open Access publishing in particle physics, SCOAP3. This is the first time an antire scientific field is exploring the conversion of its reader-paid journals into an author-paid Open Access format." (1 page)

  5. [Medical publishing in Norway 1905-2005].

    Science.gov (United States)

    Nylenna, Magne; Larsen, Øivind

    2005-06-02

    The nation-building process in Norway took mainly place before the Norwegian-Swedish union came to a close in 1905. This was not a dramatic change, though the end of the union did bring a lift to Norwegian national consciousness. In 1905 there were three general medical journals in Norway and approximately 1200 doctors. German was the most important language of international science, but most scientific publishing was done in Norwegian. After the Second World War, English became the dominating language of scientific communication. Twentieth-century medicine and medical publishing was an era of specialisation and internationalisation. Norwegian medicine has to a large extent been internationalised through Nordic cooperation, with the Nordic specialist journals being of particular importance. With increasing professionalism in research, international English-language journals have become the major channels of communication, though several Norwegian-language journals (on paper or on the internet) have been established and are of crucial importance to a national identity within medical specialties. In 2005 there is only one general medical journal in Norwegian, in a country with approximately 20,000 doctors. A national identity related to medical publishing is not given much attention, though national medicine is still closely tied in with national culture. Good clinical practice should be based on a firm knowledge of local society and local tradition. This is a challenge in contemporary medical publishing.

  6. Humanists, Libraries, Electronic Publishing, and the Future.

    Science.gov (United States)

    Sweetland, James H.

    1992-01-01

    Discusses the impact of computerization on humanists and libraries. Highlights include a lack of relevant databases; a reliance on original text; vocabulary and language issues; lack of time pressure; research style; attitudes of humanists toward technology; trends in electronic publishing; hypertext; collection development; electronic mail;…

  7. Evolving Digital Publishing Opportunities across Composition Studies

    Science.gov (United States)

    Hawishler, Gail E.; Selfe, Cynthia L.

    2014-01-01

    In this article, the authors report since the early 1980s, the profession has seen plenty of changes in the arena of digital scholarly publishing: during this time, while the specific challenges have seldom remained the same, the presence and the pressures of rapid technological change endure. In fact, as an editorial team that has, in part,…

  8. Electronic Publishing in Library and Information Science.

    Science.gov (United States)

    Lee, Joel M.; And Others

    1988-01-01

    Discusses electronic publishing as it refers to machine-readable databases. Types of electronic products and services are described and related topics considered: (1) usage of library and information science databases; (2) production and distribution of databases; (3) trends and projections in the electronic information industry; and (4)…

  9. Publisher Correction: The price of fast fashion

    Science.gov (United States)

    2018-02-01

    In the version of this Editorial originally published, the rate of clothing disposal to landfill was incorrectly given as `one rubbish truck per day'; it should have read `one rubbish truck per second'. This has now been corrected in the online versions of the Editorial.

  10. Data Publishing - View from the Front

    Science.gov (United States)

    Carlson, David; Pfeiffenberger, Hans

    2014-05-01

    As data publishing journals - Earth System Science Data (ESSD, Copernicus, since 2009), Geophysical Data Journal (GDJ, Wiley, recent) and Scientific Data (SD, Nature Publishing Group, anticipated from May 2014) - expose data sets, implement data description and data review practices, and develop partnerships with data centres and data providers, we anticipate substantial benefits for the broad earth system and environmental research communities but also substantial challenges for all parties. A primary advantage emerges from open access to convergent data: subsurface hydrographic data near Antarctica, for example, now available for combination and comparison with nearby atmospheric data (both documented in ESSD), basin-scale precipitation data (accessed through GDJ) for comparison and interpolation with long-term global precipitation records (accessed from ESSD), or, imagining not too far into the future, stomach content and abundance data for European fish (from ESSD) linked to genetic or nutritional data (from SD). In addition to increased opportunity for discovery and collaboration, we also notice parallel developments of new tools for (published) data visualization and display and increasing acceptance of data publication as a useful and anticipated dissemination step included in project- and institution-based data management plans. All parties - providers, publishers and users - will benefit as various indexing services (SCI, SCOPUS, DCI etc.) acknowledge the creative, intellectual and meritorious efforts of data preparation and data provision. The challenges facing data publication, in most cases very familiar to the data community but made more acute by the advances in data publishing, include diverging metadata standards (among biomedical, green ocean modeling and meteorological communities, for example), adhering to standards and practices for permanent identification while also accommodating 'living' data, and maintaining prompt but rigorous review and

  11. Underestimation of Severity of Previous Whiplash Injuries

    Science.gov (United States)

    Naqui, SZH; Lovell, SJ; Lovell, ME

    2008-01-01

    INTRODUCTION We noted a report that more significant symptoms may be expressed after second whiplash injuries by a suggested cumulative effect, including degeneration. We wondered if patients were underestimating the severity of their earlier injury. PATIENTS AND METHODS We studied recent medicolegal reports, to assess subjects with a second whiplash injury. They had been asked whether their earlier injury was worse, the same or lesser in severity. RESULTS From the study cohort, 101 patients (87%) felt that they had fully recovered from their first injury and 15 (13%) had not. Seventy-six subjects considered their first injury of lesser severity, 24 worse and 16 the same. Of the 24 that felt the violence of their first accident was worse, only 8 had worse symptoms, and 16 felt their symptoms were mainly the same or less than their symptoms from their second injury. Statistical analysis of the data revealed that the proportion of those claiming a difference who said the previous injury was lesser was 76% (95% CI 66–84%). The observed proportion with a lesser injury was considerably higher than the 50% anticipated. CONCLUSIONS We feel that subjects may underestimate the severity of an earlier injury and associated symptoms. Reasons for this may include secondary gain rather than any proposed cumulative effect. PMID:18201501

  12. [Electronic cigarettes - effects on health. Previous reports].

    Science.gov (United States)

    Napierała, Marta; Kulza, Maksymilian; Wachowiak, Anna; Jabłecka, Katarzyna; Florek, Ewa

    2014-01-01

    Currently very popular in the market of tobacco products have gained electronic cigarettes (ang. E-cigarettes). These products are considered to be potentially less harmful in compared to traditional tobacco products. However, current reports indicate that the statements of the producers regarding to the composition of the e- liquids not always are sufficient, and consumers often do not have reliable information on the quality of the product used by them. This paper contain a review of previous reports on the composition of e-cigarettes and their impact on health. Most of the observed health effects was related to symptoms of the respiratory tract, mouth, throat, neurological complications and sensory organs. Particularly hazardous effects of the e-cigarettes were: pneumonia, congestive heart failure, confusion, convulsions, hypotension, aspiration pneumonia, face second-degree burns, blindness, chest pain and rapid heartbeat. In the literature there is no information relating to passive exposure by the aerosols released during e-cigarette smoking. Furthermore, the information regarding to the use of these products in the long term are not also available.

  13. Consortium Negotiations with Publishers - Past and Future

    Directory of Open Access Journals (Sweden)

    Pierre Carbone

    2007-09-01

    Full Text Available Since the mid nineties, with the development of online access to information (journals, databases, e-books, libraries strengthened their cooperation. They set up consortia at different levels around the world, generally with the support of the public authorities, for negotiating collectively with the publishers and information providers general agreements for access to these resources. This cooperation has been reinforced at the international level with the exchange of experiences and the debates in the ICOLC seminars and statements. So did the French consortium Couperin, which is now gathering more than 200 academic and research institutions. The level of access and downloading from these resources is growing with geometrical progression, and reaches a scale with no comparison to ILL or access to printed documents, but the costs did not reduce and the libraries budgets did not increase. At first, agreements with the major journal publishers were based on cross-access, and evolved rapidly to the access at a large bundle of titles in the so-called Big deal. After experiencing the advantages of the Big deal, the libraries are now more sensitive to the limits and lack of flexibility and to cost-effectiveness. These Big deals were based on a model where online access fee is built on the cost of print subscriptions, and the problem for the consortia and for the publishers is now to evolve from this print plus online model to an e-only model, no more based on the historical amount of the print subscriptions, to a new deal. In many European countries, VAT legislation is an obstacle to e-only, and this problem must be discussed at the European level. This change to e-only takes place at a moment where changes in the scientific publishing world are important (mergers of publishing houses, growth of research and of scientific publishing in the developing countries, open access and open archives movement. The transition to e-only leads also the library

  14. Publishing Landscape Archaeology in the Digital World

    Directory of Open Access Journals (Sweden)

    Howry Jeffrey C.

    2017-12-01

    Full Text Available The challenge of presenting micro- and macro-scale scale data in landscape archaeology studies is facilitated by a diversity of GIS technologies. Specific to scholarly research is the need to selectively share certain types of data with collaborators and academic researchers while also publishing general information in the public domain. This article presents a general model for scholarly online collaboration and teaching while providing examples of the kinds of landscape archaeology that can be published online. Specifically illustrated is WorldMap, an interactive mapping platform based upon open-source software which uses browsers built to open source standards. The various features of this platform allow tight user viewing control, views with URL referencing, commenting and certification of layers, as well as user annotation. Illustration of WorldMap features and its value for scholarly research and teaching is provided in the context of landscape archaeology studies.

  15. Springer Publishing Booth | 4-5 October

    CERN Multimedia

    2016-01-01

    In the spirit of continuation of the CERN Book Fairs of the past years, Springer Nature will be present with a book and journal booth on October 4th and 5th, located as usual in the foyer of the Main Building. Some of the latest titles in particle physics and related fields will be on sale.   You are cordially invited to come to the booth to meet Heike Klingebiel (Licensing Manager / Library Sales), Hisako Niko (Publishing Editor) and Christian Caron (Publishing Editor). In particular, information about the new Nano database – nanomaterial and device profiles from high-impact journals and patents, manually abstracted, curated and updated by nanotechnology experts – will be available. The database is accessible here: http://nano.nature.com/. 

  16. Publishing priorities of biomedical research funders

    Science.gov (United States)

    Collins, Ellen

    2013-01-01

    Objectives To understand the publishing priorities, especially in relation to open access, of 10 UK biomedical research funders. Design Semistructured interviews. Setting 10 UK biomedical research funders. Participants 12 employees with responsibility for research management at 10 UK biomedical research funders; a purposive sample to represent a range of backgrounds and organisation types. Conclusions Publicly funded and large biomedical research funders are committed to open access publishing and are pleased with recent developments which have stimulated growth in this area. Smaller charitable funders are supportive of the aims of open access, but are concerned about the practical implications for their budgets and their funded researchers. Across the board, biomedical research funders are turning their attention to other priorities for sharing research outputs, including data, protocols and negative results. Further work is required to understand how smaller funders, including charitable funders, can support open access. PMID:24154520

  17. The Open Data Repositorys Data Publisher

    Science.gov (United States)

    Stone, N.; Lafuente, B.; Downs, R. T.; Blake, D.; Bristow, T.; Fonda, M.; Pires, A.

    2015-01-01

    Data management and data publication are becoming increasingly important components of researcher's workflows. The complexity of managing data, publishing data online, and archiving data has not decreased significantly even as computing access and power has greatly increased. The Open Data Repository's Data Publisher software strives to make data archiving, management, and publication a standard part of a researcher's workflow using simple, web-based tools and commodity server hardware. The publication engine allows for uploading, searching, and display of data with graphing capabilities and downloadable files. Access is controlled through a robust permissions system that can control publication at the field level and can be granted to the general public or protected so that only registered users at various permission levels receive access. Data Publisher also allows researchers to subscribe to meta-data standards through a plugin system, embargo data publication at their discretion, and collaborate with other researchers through various levels of data sharing. As the software matures, semantic data standards will be implemented to facilitate machine reading of data and each database will provide a REST application programming interface for programmatic access. Additionally, a citation system will allow snapshots of any data set to be archived and cited for publication while the data itself can remain living and continuously evolve beyond the snapshot date. The software runs on a traditional LAMP (Linux, Apache, MySQL, PHP) server and is available on GitHub (http://github.com/opendatarepository) under a GPLv2 open source license. The goal of the Open Data Repository is to lower the cost and training barrier to entry so that any researcher can easily publish their data and ensure it is archived for posterity.

  18. Publisher Correction: Local sourcing in astronomy

    Science.gov (United States)

    2018-06-01

    In the version of this Editorial originally published, we mistakenly wrote that `the NAOJ ... may decommission Subaru in favour of other priorities'. In fact, the National Astronomical Observatory of Japan is committed to the long-term operation of the Subaru telescope. In the corrected version that whole sentence has been replaced with: `It will be critical to maintain such smaller telescopes in the age of the ELTs.'

  19. Electronic pre-publishing for worldwide access

    International Nuclear Information System (INIS)

    Dallman, D.; Draper, M.; Schwarz, S.

    1994-01-01

    In High Energy Physics, as in other areas of research, paper preprints have traditionally been the primary method of communication, before publishing in a journal. Electronic bulletin boards (EBBs) are now taking over as the dominant medium. While fast and readily available EBBs do not constitute electronic journals as they bypass the referee system crucial for prestigious research journals, although this too may be achieved electronically in time. (UK)

  20. The Open Data Repository's Data Publisher

    Science.gov (United States)

    Stone, N.; Lafuente, B.; Downs, R. T.; Bristow, T.; Blake, D. F.; Fonda, M.; Pires, A.

    2015-12-01

    Data management and data publication are becoming increasingly important components of research workflows. The complexity of managing data, publishing data online, and archiving data has not decreased significantly even as computing access and power has greatly increased. The Open Data Repository's Data Publisher software (http://www.opendatarepository.org) strives to make data archiving, management, and publication a standard part of a researcher's workflow using simple, web-based tools and commodity server hardware. The publication engine allows for uploading, searching, and display of data with graphing capabilities and downloadable files. Access is controlled through a robust permissions system that can control publication at the field level and can be granted to the general public or protected so that only registered users at various permission levels receive access. Data Publisher also allows researchers to subscribe to meta-data standards through a plugin system, embargo data publication at their discretion, and collaborate with other researchers through various levels of data sharing. As the software matures, semantic data standards will be implemented to facilitate machine reading of data and each database will provide a REST application programming interface for programmatic access. Additionally, a citation system will allow snapshots of any data set to be archived and cited for publication while the data itself can remain living and continuously evolve beyond the snapshot date. The software runs on a traditional LAMP (Linux, Apache, MySQL, PHP) server and is available on GitHub (http://github.com/opendatarepository) under a GPLv2 open source license. The goal of the Open Data Repository is to lower the cost and training barrier to entry so that any researcher can easily publish their data and ensure it is archived for posterity. We gratefully acknowledge the support for this study by the Science-Enabling Research Activity (SERA), and NASA NNX11AP82A

  1. Promising Products for Printing and Publishing Market

    Directory of Open Access Journals (Sweden)

    Renata Činčikaitė

    2011-04-01

    Full Text Available The article surveys printing and publishing market and its strong and weak aspects. The concept of a new product is described as well as its lifetime and the necessity of its introduction to the market. The enterprise X operating on the market is analyzed, its strong and weak characteristics are presented. The segmentation of the company consumers is performed. On the basis of the performed analysis the potential promising company products are defined.Article in Lithuanian

  2. Redressing the inverted pyramid of scientific publishing

    Science.gov (United States)

    Caux, Jean-Sébastien

    2017-11-01

    Scientific publishing is currently undergoing a progressively rapid transformation away from the traditional subscription model. With the Open Access movement in full swing, existing business practices and future plans are coming under increasing scrutiny, while new "big deals" are being made at breakneck speed. Scientists can rightfully ask themselves if all these changes are going the right way, and if not, what can be done about it.

  3. Open Access publishing in physics gains momentum

    CERN Multimedia

    2006-01-01

    "As if inventing the World-Wide Web were not revolutionary enough, the European Organisation for Nuclear Research (CERN) is now on its way to unleashing a paradigm shift in the world of academic publishing. For the first time ever, an entire scientific field is exploring the possibility of converting its reader-paid journals into an author-pai Open Access format." (1 page)

  4. The BiPublishers ranking: Main results and methodological problems when constructing rankings of academic publishers

    Directory of Open Access Journals (Sweden)

    Torres-Salinas, Daniel

    2015-12-01

    Full Text Available We present the results of the Bibliometric Indicators for Publishers project (also known as BiPublishers. This project represents the first attempt to systematically develop bibliometric publisher rankings. The data for this project was derived from the Book Citation Index and the study time period was 2009-2013. We have developed 42 rankings: 4 by fields and 38 by disciplines. We display six indicators for publishers divided into three types: output, impact and publisher’s profile. The aim is to capture different characteristics of the research performance of publishers. 254 publishers were processed and classified according to publisher type: commercial publishers and university presses. We present the main publishers by field and then discuss the principal challenges presented when developing this type of tool. The BiPublishers ranking is an on-going project which aims to develop and explore new data sources and indicators to better capture and define the research impact of publishers.Presentamos los resultados del proyecto Bibliometric Indicators for Publishers (BiPublishers. Es el primer proyecto que desarrolla de manera sistemática rankings bibliométricos de editoriales. La fuente de datos empleada es el Book Citation Index y el periodo de análisis 2009-2013. Se presentan 42 rankings: 4 por áreas y 38 por disciplinas. Mostramos seis indicadores por editorial divididos según su tipología: producción, impacto y características editoriales. Se procesaron 254 editoriales y se clasificaron según el tipo: comerciales y universitarias. Se presentan las principales editoriales por áreas. Después, se discuten los principales retos a superar en el desarrollo de este tipo de herramientas. El ranking Bipublishers es un proyecto en desarrollo que persigue analizar y explorar nuevas fuentes de datos e indicadores para captar y definir el impacto de las editoriales académicas.

  5. Recently Published Lectures and Tutorials for ATLAS

    CERN Multimedia

    Herr, J.

    2006-01-01

    As reported in the September 2004 ATLAS eNews, the Web Lecture Archive Project, WLAP, a collaboration between the University of Michigan and CERN, has developed a synchronized system for recording and publishing educational multimedia presentations, using the Web as medium. This year, the University of Michigan team has been asked to record and publish all ATLAS Plenary sessions, as well as a large number of Physics and Computing tutorials. A significant amount of this material has already been published and can be accessed via the links below. The WLAP model is spreading. This summer, the CERN's High School Teachers program has used WLAP's system to record several physics lectures directed toward a broad audience. And a new project called MScribe, which is essentially the WLAP system coupled with an infrared tracking camera, is being used by the University of Michigan to record several University courses this academic year. All lectures can be viewed on any major platform with any common internet browser...

  6. The ethics of open access publishing.

    Science.gov (United States)

    Parker, Michael

    2013-03-22

    Should those who work on ethics welcome or resist moves to open access publishing? This paper analyses arguments in favour and against the increasing requirement for open access publishing and considers their implications for bioethics research. In the context of biomedical science, major funders are increasingly mandating open access as a condition of funding and such moves are also common in other disciplines. Whilst there has been some debate about the implications of open-access for the social sciences and humanities, there has been little if any discussion about the implications of open access for ethics. This is surprising given both the central role of public reason and critique in ethics and the fact that many of the arguments made for and against open access have been couched in moral terms. In what follows I argue that those who work in ethics have a strong interest in supporting moves towards more open publishing approaches which have the potential both to inform and promote richer and more diverse forms of public deliberation and to be enriched by them. The importance of public deliberation in practical and applied ethics suggests that ethicists have a particular interest in the promotion of diverse and experimental forms of publication and debate and in supporting new, more creative and more participatory approaches to publication.

  7. Applied and implied semantics in crystallographic publishing

    Directory of Open Access Journals (Sweden)

    McMahon Brian

    2012-08-01

    Full Text Available Abstract Background Crystallography is a data-rich, software-intensive scientific discipline with a community that has undertaken direct responsibility for publishing its own scientific journals. That community has worked actively to develop information exchange standards allowing readers of structure reports to access directly, and interact with, the scientific content of the articles. Results Structure reports submitted to some journals of the International Union of Crystallography (IUCr can be automatically validated and published through an efficient and cost-effective workflow. Readers can view and interact with the structures in three-dimensional visualization applications, and can access the experimental data should they wish to perform their own independent structure solution and refinement. The journals also layer on top of this facility a number of automated annotations and interpretations to add further scientific value. Conclusions The benefits of semantically rich information exchange standards have revolutionised the scholarly publishing process for crystallography, and establish a model relevant to many other physical science disciplines.

  8. Open Access Publishing - Strengths and Strategies

    Science.gov (United States)

    Rasmussen, Martin

    2010-05-01

    The journal crisis and the demand for free accessibility to the results of publicly funded research were the main drivers of the Open Access movement since the late 1990's. Besides many academic institutions that support the different ways of Open Access publishing, there is a growing number of publishing houses that are specialized on this new access and business model of scholarly literature. The lecture provides an overview of the different kinds of Open Access publishing, discusses the variety of underlying business models, names the advantages and potentials for researches and the public, and overcomes some objections against Open Access. Besides the increased visibility and information supply, the topic of copyrights and exploitation rights will be discussed. Furthermore, it is a central aim of the presentation to show that Open Access does not only support full peer-review, but also provides the potential for even enhanced quality assurance. The financing of business models based on open accessible literature is another important part to be outlined in the lecture.

  9. Functional SNP associated with birth weight in independent populations identified with a permutation step added to GBLUP-GWAS

    Science.gov (United States)

    This study was conducted as an initial assessment of a newly available genotyping assay containing about 34,000 common SNP included on previous SNP chips, and 199,000 sequence variants predicted to affect gene function. Objectives were to identify functional variants associated with birth weight in...

  10. Publishing bioethics and bioethics--reflections on academic publishing by a journal editor.

    Science.gov (United States)

    Schüklenk, Udo

    2011-02-01

    This article by one of the Editors of Bioethics, published in the 25th anniversary issue of the journal, describes some of the revolutionary changes academic publishing has undergone during the last decades. Many humanities journals went from typically small print-runs, counting by the hundreds, to on-line availability in thousands of university libraries worldwide. Article up-take by our subscribers can be measured efficiently. The implications of this and other changes to academic publishing are discussed. Important ethical challenges need to be addressed in areas such as the enforcement of plagiarism-related policies, the so-called 'impact factor' and its impact on academic integrity, and the question of whether on-line only publishing can currently guarantee the integrity of academic publishing histories. © 2010 Blackwell Publishing Ltd.

  11. Reinvention of publishers' revenue model: expectations of advertisers towards publishers' products

    OpenAIRE

    Koller, Hans; Dennstedt, Bianca

    2017-01-01

    Publishers have to reconsider their revenue model. Facing a massive decline in the circulation of newspapers and magazines over the past years, publishers have lost not only readers but also many advertisers. Thus, publishers are faced with both changed customer expectations as well as difficulty in generating profit. Users are increasingly less willing to pay for digital products and their expectations of digital content have changed: They would like to contribute their own content as well a...

  12. PUBLISHER'S ANNOUNCEMENT: Editorial developments Editorial developments

    Science.gov (United States)

    2010-01-01

    I am delighted to inform you that from January 2010 Professor Alfred K Louis of the University of Saarland, Germany, will be the new Editor-in-Chief of Inverse Problems. Alfred joins us with a wealth of experience and a great deal of respect from the community. He has served the journal in a number of ways as an Editorial Board member, outstanding reviewer and author. We very much look forward to working with him to continue to publish the highest quality articles in the field and build on our extremely successful special section and topical review programmes. Whilst welcoming Alfred to the position, we are also keen to thank our outgoing Editor-in-Chief, Professor Bill Symes, for the fabulous job that he has done over the past five years. Under Bill's direction, Inverse Problems has gone from strength to strength. In fact, in the last year we have taken the step of moving from six to 12 issues a year, reflecting the increased number of high-quality papers submitted to the journal. During the last five years we have published a wide range of fantastic special sections and topical reviews, including a celebration of the journal's 25th year (issue 12 2009), in which Bill played a pivotal role. We are very much looking forward to 2010 and will be celebrating our 25th birthday further with a selection of highlighted articles chosen from the past 25 years. We hope that you will continue to enjoy reading the journal. If you have any feedback, comments or questions, please do not hesitate to contact us at ip@iop.org. Zoë Crossman Publisher

  13. Scientific Publishing and the Data Deluge (Invited)

    Science.gov (United States)

    Hanson, B.

    2010-12-01

    The ability to collect and analyze huge data sets is changing and revolutionizing many aspects of science, including scientific publishing. Policies and practices with respect to data management and archiving have been evolving at journals, but many outstanding problems and challenges have emerged and some are growing. Journals have an evolving mission including a traditional role in advancing science and an increasingly important role of accrediting peer-reviewed research used in public policy and the legal and regulatory systems. Publishing is increasingly responsible for assuring the reliability and transparency of data for both uses, and policies have been evolving to meet these goals. Most journals now include data supplements and have strengthened sharing and archiving requirements. For example, Science now requires all references to be available (published) at publication, and to the extent possible, supporting data to be archived in online supplements. Many problems remain and are growing: Journals cannot handle some of the large data sets routinely being produced now, and must rely on public databases. Of these, too many do not have reliable funding, and others (e.g., personal or institutional WWW sites) are not reliably curated. Much usable data is being discarded. Journals are in the role of monitoring and in too many cases enforcing deposition and sharing of data. Presentation and visualization of data requires new tools that are challenging to standardize and maintain, and to represent within traditional formats still used by most users. Much data is being archived in a minimally usable form (PDF) without common metadata. A growing burden is being placed on reviewers and editors as papers are longer and more complex, and many journals are seeing large growths in submissions. In some disciplines, huge private data sets, third-party data, or privacy issues are increasingly important, and scientists and journals may be unaware of use restrictions. It is

  14. Conceiving, Writing and Publishing a Scientific Paper

    Directory of Open Access Journals (Sweden)

    Marta Christina Suciu

    2018-02-01

    Full Text Available I consider that the second edition of the book “Conceiving, Writing and Publishing a Scientific Paper. An approach in the context of economic research” is a work of high scientific standing, excellently documented, addressed to knowledgeable readers but also to the new generations of PhD students and researchers interested in attaining the highest academic and scientific performances in the field of Economics. From my point of view, both editions of the book are highly useful for the academic environment. I especially appreciate the authors’ efforts to improve and expand the second edition. This fact is due to the changes occurred in the evolution of scientometric indicators, to the feedback received from readers, but also as the result of the desire to include multiple networks and platforms that take into account professional and institutional profiles, such as to facilitate the researchers’ dissemination of their results obtained in the scientific research activity. The authors benefit on an unanimous recognition and are highly appreciated., fact proven for example by the ten existing reviews of the book’s first edition, published in journals indexed in Web of Science, Scopus and other international databases. I am mostly impressed by the authors’ permanent concern to improve their book’s scientific content. The first edition was awarded the distinction “The Best Book in the Field of Economics” published in 2016 in Romania by the Association of Romanian Economic Faculties, but also by The Association of Cultural-Educational Cooperation from Suceava (ACCES prize in 2016

  15. XML Publishing with Adobe InDesign

    CERN Document Server

    Hoskins, Dorothy

    2010-01-01

    From Adobe InDesign CS2 to InDesign CS5, the ability to work with XML content has been built into every version of InDesign. Some of the useful applications are importing database content into InDesign to create catalog pages, exporting XML that will be useful for subsequent publishing processes, and building chunks of content that can be reused in multiple publications. In this Short Cut, we'll play with the contents of a college course catalog and see how we can use XML for course descriptions, tables, and other content. Underlying principles of XML structure, DTDs, and the InDesign namesp

  16. Tackling Tumblr Web Publishing Made Simple

    CERN Document Server

    Hedengren, Thord Daniel

    2011-01-01

    A comprehensive guide to the popular web publishing site Tumblr The popularity of Tumblr is growing by leaps and bounds, as it continues to make a name for itself as a reliable, accessible blogging platform. Yet, there is very little documentation on Tumblr, leaving newcomers confused as to where to start. That's where this helpful book comes in. Written by well-respected author Thord Hedengren, this step-by-step guide is an ideal starting point for Tumblr newcomers as well as web designers who want to take their Tumblblogs to the next level. You'll learn how to maximize the full potential of

  17. Astronomical Publishing: Yesterday, Today and Tomorrow

    Science.gov (United States)

    Huchra, John

    Just in the last few years scientific publishing has moved rapidly away from the modes that served it well for over two centuries. As "digital natives" take over the field and rapid and open access comes to dominate the way we communicate, both scholarly journals and libraries need to adopt new business models to serve their communities. This is best done by identifying new "added value" such as databases, full text searching, full cross indexing while at the same time retaining the high quality of peer reviewed publication.

  18. Pioneers, publishers and the dissemination of archaeological knowledge: A study of publishing in British archaeology 1816-1851

    Directory of Open Access Journals (Sweden)

    Sarah Scott

    2013-08-01

    Full Text Available The first half of the nineteenth century was a formative period in the development of archaeology as a discipline and archaeological publishing played a key role in this. Libraries were an essential marker of social and intellectual status and there now exists a considerable body of scholarship on the most impressive publications of the day and on the factors influencing their presentation; for example, in relation to the publication of Mediterranean classical antiquities. The crucial role which publishers played in the selection and dissemination of scholarship has been addressed in recent studies of the history of the book, and there is a growing literature on the role of publishers in the dissemination of scientific knowledge, but there has to date been very limited evaluation of the role of publishers in the selection and dissemination of archaeological knowledge in Britain in this period. This study will investigate the extent to which the publication and dissemination of archaeological knowledge, and hence the discipline itself, was shaped by the intellectual and/or commercial concerns of publishers, with a view to providing a more nuanced understanding of the ways in which knowledge was filtered and the impact that this had. Key trends in archaeological publishing in the period 1816-51 will be identified, based on the London Catalogue of Books, and will show how and why this kind of study should be seen as an essential component of any research which considers the history of the discipline. Selected case studies will show the immense, and previously unacknowledged, importance of decisions made during the publication process on the development of archaeology in Britain, and directions for further study will be identified.

  19. Desktop Publishing: A Brave New World and Publishing from the Desktop.

    Science.gov (United States)

    Lormand, Robert; Rowe, Jane J.

    1988-01-01

    The first of two articles presents basic selection criteria for desktop publishing software packages, including discussion of expectations, required equipment, training costs, publication size, desired software features, additional equipment needed, and quality control. The second provides a brief description of desktop publishing using the Apple…

  20. Scientific Journal Publishing in India: Promoting electronic publishing of scholarly journals in India

    OpenAIRE

    Abraham, Thomas; Minj, Suvarsha

    2007-01-01

    Provides a report about the Scientific Journal Publishing in India (SJPI) Project which promotes electronic publishing of scholarly journals. It covers briefly the objectives, implementation and outcomes of the Project. Open Journal Systems and Open Archives Harvester were used to achieve the goals of the Project.

  1. Entomological journals and publishing in Japan.

    Science.gov (United States)

    Fukatsu, Takema

    Here I present an overview of entomological journals and publishing in Japan, thereby providing a convenient portal to the valuable scientific resources for the world's entomological researchers and scientific communities. Currently, except for several international journals published fully in English such as Applied Entomology and Zoology and Entomological Science , many entomological and entomology-related journals in Japan are not indexed by major scientific databases like Web of Science, and therefore they are neither conveniently recognizable nor accessible for the world's entomological communities. However, I point out that many of the contents of such journals are freely available via Japan's public platforms for electronic scientific literature, Japan Science and Technology Information Aggregator, Electronic (J-stage) or Citation Information by National Institute of Informatics (CiNii). Here I list 32 entomological and entomology-related societies and their 45 journals, the majority of which belong to either the Union of Japanese Societies for Insect Sciences (UJSIS), the Union of the Japanese Societies for Systematic Biology (UJSSB), the Union of Japanese Societies for Natural History (UJSNH), or the Union of Japanese Societies for Biological Science (UJSBS), with their respective URL and open-access availability.

  2. Open meeting on changing the publishing model

    CERN Multimedia

    2005-01-01

    The Director-General is calling all CERN editors and authors to a meeting to contribute to the discussion on the direction that CERN should take in its experimentation with new publishing models. The current subscription-funded publishing model for journal articles (where access to a particular journal is granted upon payment of a subscription, often arranged by the institutional library) has been the status quo for many years. However, new evidence suggests that removing this subscription barrier gives access to a greater number of readers and so leads to a higher citation rate and therefore greater impact. New so-called Open Access models are emerging but these require the support of authors and editors to be successful. A number of presentations have been solicited which will explain the background to the current situation and Chief Scientific Officer, Jos Engelen, will lead a discussion about the pros and cons of CERN following a particular model. Your input and support is crucial to the success of suc...

  3. Copyright case a victory for science publishing

    Science.gov (United States)

    Cole, Stephen

    An important victory for the financial health and future of scientific journals was won July 23 when Judge Pierre Leval of the Federal District Court in New York handed down his decision on the copyright infringement suit, American Geophysical Union, et al. v. Texaco Inc. Leval ruled that profit-making companies cannot photocopy copyrighted journal articles without permission and without compensating the copyright holder.The class action suit was brought in 1985 by AGU and six other scientific publishers on behalf of 8500 publishers worldwide who make their titles available for legal copying under licenses granted by the Copyright Clearance Center, Inc. This licensing system was designed in cooperation with major corporations to facilitate compliance with the 1976 Copyright Act. Although more than 200 companies now use the center, some corporations, such as Texaco, have not. The suit was initiated to force compliance with copyright law. The current decision is very important because it establishes legal precedents on the “fair use” issue.

  4. Publish or perish: tools for survival

    Directory of Open Access Journals (Sweden)

    Quan SF

    2017-02-01

    Full Text Available No abstract available. Article truncated at 150 words. Success in one’s chosen profession is often predicated upon meeting a profession-wide standard of excellence or productivity. In the corporate world, the metric might be sales volume and in clinical medicine it may be patient satisfaction and/or number of patients seen. In academic medicine, including the fields of Pulmonary and Critical Care Medicine, the “coin of the realm” is demonstrable written scholarship. In large part, this is determined by the number and quality of publications in scientific journals. Unfortunately, the skills required to navigate the complexities of how to publish in the scientific literature rarely are taught in either medical school or postgraduate training. To assist the inexperienced academic physician or scientist, the Writing for Scholarship Interest Group of the Harvard Medical School Academy recently published “A Writer’s Toolkit” (1. This comprehensive monograph provides valuable information on all phases of the writing process ranging from conceptualization of a manuscript to …

  5. Publishing perishing? Towards tomorrow's information architecture

    Directory of Open Access Journals (Sweden)

    Gerstein Mark B

    2007-01-01

    Full Text Available Abstract Scientific articles are tailored to present information in human-readable aliquots. Although the Internet has revolutionized the way our society thinks about information, the traditional text-based framework of the scientific article remains largely unchanged. This format imposes sharp constraints upon the type and quantity of biological information published today. Academic journals alone cannot capture the findings of modern genome-scale inquiry. Like many other disciplines, molecular biology is a science of facts: information inherently suited to database storage. In the past decade, a proliferation of public and private databases has emerged to house genome sequence, protein structure information, functional genomics data and more; these digital repositories are now a vital component of scientific communication. The next challenge is to integrate this vast and ever-growing body of information with academic journals and other media. To truly integrate scientific information we must modernize academic publishing to exploit the power of the Internet. This means more than online access to articles, hyperlinked references and web-based supplemental data; it means making articles fully computer-readable with intelligent markup and Structured Digital Abstracts. Here, we examine the changing roles of scholarly journals and databases. We present our vision of the optimal information architecture for the biosciences, and close with tangible steps to improve our handling of scientific information today while paving the way for an expansive central index in the future.

  6. AAS Publishing News: Astronomical Software Citation Workshop

    Science.gov (United States)

    Kohler, Susanna

    2015-07-01

    Do you write code for your research? Use astronomical software? Do you wish there were a better way of citing, sharing, archiving, or discovering software for astronomy research? You're not alone! In April 2015, AAS's publishing team joined other leaders in the astronomical software community in a meeting funded by the Sloan Foundation, with the purpose of discussing these issues and potential solutions. In attendance were representatives from academic astronomy, publishing, libraries, for-profit software sharing platforms, telescope facilities, and grantmaking institutions. The goal of the group was to establish “protocols, policies, and platforms for astronomical software citation, sharing, and archiving,” in the hopes of encouraging a set of normalized standards across the field. The AAS is now collaborating with leaders at GitHub to write grant proposals for a project to develop strategies for software discoverability and citation, in astronomy and beyond. If this topic interests you, you can find more details in this document released by the group after the meeting: http://astronomy-software-index.github.io/2015-workshop/ The group hopes to move this project forward with input and support from the broader community. Please share the above document, discuss it on social media using the hashtag #astroware (so that your conversations can be found!), or send private comments to julie.steffen@aas.org.

  7. PUBLISHER'S ANNOUNCEMENT: Editorial developments Editorial developments

    Science.gov (United States)

    Gillan, Rebecca

    2009-01-01

    We are delighted to announce that from January 2009, Professor Murray T Batchelor of the Australian National University, Canberra will be the new Editor-in-Chief of Journal of Physics A: Mathematical and Theoretical. Murray Batchelor has been Editor of the Mathematical Physics section of the journal since 2007. Prior to this, he served as a Board Member and an Advisory Panel member for the journal. His primary area of research is the statistical mechanics of exactly solved models. He holds a joint appointment in mathematics and physics and has held visiting positions at the Universities of Leiden, Amsterdam, Oxford and Tokyo. We very much look forward to working with Murray to continue to improve the journal's quality and interest to the readership. We would like to thank our outgoing Editor-in-Chief, Professor Carl M Bender. Carl has done a magnificent job as Editor-in-Chief and has worked tirelessly to improve the journal over the last five years. Carl has been instrumental in designing and implementing strategies that have enhanced the quality of papers published and service provided by Journal of Physics A: Mathematical and Theoretical. Notably, under his tenure, we have introduced the Fast Track Communications (FTC) section to the journal. This section provides a venue for outstanding short papers that report new and timely developments in mathematical and theoretical physics and offers accelerated publication and high visibility for our authors. During the last five years, we have raised the quality threshold for acceptance in the journal and now reject over 60% of submissions. As a result, papers published in Journal of Physics A: Mathematical and Theoretical are amongst the best in the field. We have also maintained and improved on our excellent receipt-to-first-decision times, which now average less than 50 days for papers. We have recently announced another innovation; the Journal of Physics A Best Paper Prize. These prizes will honour excellent papers

  8. Predictive effects of previous episodes on the risk of recurrence in depressive and bipolar disorders

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Andersen, Per Kragh

    2005-01-01

    Findings from several studies have suggested that the risk of recurrence increases with the number of previous episodes in depressive and bipolar disorders. However, a comprehensive and critical review of the literature published during the past century shows that in several previous studies...

  9. Webmail: an Automated Web Publishing System

    Science.gov (United States)

    Bell, David

    A system for publishing frequently updated information to the World Wide Web will be described. Many documents now hosted by the NOAO Web server require timely posting and frequent updates, but need only minor changes in markup or are in a standard format requiring only conversion to HTML. These include information from outside the organization, such as electronic bulletins, and a number of internal reports, both human and machine generated. Webmail uses procmail and Perl scripts to process incoming email messages in a variety of ways. This processing may include wrapping or conversion to HTML, posting to the Web or internal newsgroups, updating search indices or links on related pages, and sending email notification of the new pages to interested parties. The Webmail system has been in use at NOAO since early 1997 and has steadily grown to include fourteen recipes that together handle about fifty messages per week.

  10. A Learned Society's Perspective on Publishing.

    Science.gov (United States)

    Suzuki, Kunihiko; Edelson, Alan; Iversen, Leslie L; Hausmann, Laura; Schulz, Jörg B; Turner, Anthony J

    2016-10-01

    Scientific journals that are owned by a learned society, like the Journal of Neurochemistry (JNC), which is owned by the International Society for Neurochemistry (ISN), benefit the scientific community in that a large proportion of the income is returned to support the scientific mission of the Society. The income generated by the JNC enables the ISN to organize conferences as a platform for members and non-members alike to share their research, supporting researchers particularly in developing countries by travel grants and other funds, and promoting education in student schools. These direct benefits and initiatives for ISN members and non-members distinguish a society journal from pure commerce. However, the world of scholarly publishing is changing rapidly. Open access models have challenged the business model of traditional journal subscription and hence provided free access to publicly funded scientific research. In these models, the manuscript authors pay a publication cost after peer review and acceptance of the manuscript. Over the last decade, numerous new open access journals have been launched and traditional subscription journals have started to offer open access (hybrid journals). However, open access journals follow the general scheme that, of all participating parties, the publisher receives the highest financial benefit. The income is generated by researchers whose positions and research are mostly financed by taxpayers' or funders' money, and by reviewers and editors, who frequently are not reimbursed. Last but not least, the authors pay for the publication of their work after a rigorous and sometimes painful review process. JNC itself has an open access option, at a significantly reduced cost for Society members as an additional benefit. This article provides first-hand insights from two former Editors-in-Chief, Kunihiko Suzuki and Leslie Iversen, about the history of JNC's ownership and about the difficulties and battles fought along the way to

  11. Promotion and monetization in publishing mobile applications

    Directory of Open Access Journals (Sweden)

    Fernando Peinado Miguel

    2016-07-01

    Full Text Available The road to new technologies and digital systems of transmission of the message produce unpublished business channels to support the media management current. And the printed media can benefit since they can find greater advantages in this new channel of increasing consumption: mobile greater advantages in this new channel of increasing consumption: mobile applications. The modern editor coexists with these new technologies, scheduled or native applications on web languages that offer multiple possibilities of loyalty, monetization, distribution and synergies with the channels already considered classics. The study of apps to generate revenue in the media can be the new contextual paradigm of the Periodismo and establish the key factors for a better profitability of the participants this industry, increasingly weakened financially and business by the accelerated arrival of technology in publishing groups accustomed to changes of slow evolution.

  12. Replication study for the association of 9 East Asian GWAS-derived loci with susceptibility to type 2 diabetes in a Japanese population.

    Directory of Open Access Journals (Sweden)

    Kensuke Sakai

    Full Text Available AIMS: East Asian genome-wide association studies (GWAS for type 2 diabetes identified 8 loci with genome-wide significance, and 2 loci with a borderline association. However, the associations of these loci except MAEA locus with type 2 diabetes have not been evaluated in independent East Asian cohorts. We performed a replication study to investigate the association of these susceptibility loci with type 2 diabetes in an independent Japanese population. METHODS: We genotyped 7,379 Japanese participants (5,315 type 2 diabetes and 2,064 controls for each of the 9 single nucleotide polymorphisms (SNPs, rs7041847 in GLIS3, rs6017317 in FITM2-R3HDML-HNF4A, rs6467136 near GCCI-PAX4, rs831571 near PSMD6, rs9470794 in ZFAND3, rs3786897 in PEPD, rs1535500 in KCNK16, rs16955379 in CMIP, and rs17797882 near WWOX. Because the sample size in this study was not sufficient to replicate single SNP associations, we constructed a genetic risk score (GRS by summing a number of risk alleles of the 9 SNPs, and examined the association of the GRS with type 2 diabetes using logistic regression analysis. RESULTS: With the exception of rs1535500 in KCNK16, all SNPs had the same direction of effect (odds ratio [OR]>1.0 as in the original reports. The GRS constructed from the 9 SNPs was significantly associated with type 2 diabetes in the Japanese population (p = 4.0 × 10(-4, OR = 1.05, 95% confidence interval: 1.02-1.09. In quantitative trait analyses, rs16955379 in CMIP was nominally associated with a decreased homeostasis model assessment of β-cell function and with increased fasting plasma glucose, but neither the individual SNPs nor the GRS showed a significant association with the glycemic traits. CONCLUSIONS: These results indicate that 9 loci that were identified in the East Asian GWAS meta-analysis have a significant effect on the susceptibility to type 2 diabetes in the Japanese population.

  13. Issues in Science Publishing. What's Hot and What's not?

    Directory of Open Access Journals (Sweden)

    Jaime A. Teixeira da Silva

    2015-06-01

    Full Text Available Science is in crisis: a crisis of trust, and a crisis of values. Yet, this is an opportune moment for scientists to examine the issues that underly science to discover how they may be of use, beyond their laboratory or field experience, to improve the research and publishing landscapes to create an environment that suits their needs more. Traditionally, the science publishing landscape had been controlled by the science, technology and medicine publishers, who have always taunted their peer review systems as being fail-safe. Yet, considerable moss has been gathered by the post-publication peer review (PPPR movement over the past few years, indicating that the voice of the average scientist now carries more weight, and more value, than ever before. Despite this, most scientists are unaware of their potential power of opinion. Especially when it comes to commenting on, and correcting, the already published literature. Commenting by name, or anonymously, is the new PPPR publishing reality. There needs to also be a concomitant movement away from artificial metrics, such as the impact factor, which serve only as ego-boosting parameters, and which distract the wider readership from the weaknesses of the traditional peer review system currently in place. Increasing cases of the abuse of peer review, such as the creation of fake identities, affiliations or e-mail addresses further highlights the need for scientists to be vigilant, without necessairly being vigilantes. The discovery, within a matter of years, that the literature is more corrupted than was previously thought, in some cases caused by clear cases of editorial cronyism, or abuse, has resulted in a need for scientists to exceed their functions as mere scientists to evolve into whistle-blowers. Some ethical guidelines are in place, such as those by COPE, yet what is being increasingly witnessed, is a discrepancy between preached values by select COPE member journals, and the literature that

  14. Individual and cumulative effects of GWAS susceptibility loci in lung cancer: associations after sub-phenotyping for COPD.

    Directory of Open Access Journals (Sweden)

    Robert P Young

    2011-02-01

    Full Text Available Epidemiological studies show that approximately 20-30% of chronic smokers develop chronic obstructive pulmonary disease (COPD while 10-15% develop lung cancer. COPD pre-exists lung cancer in 50-90% of cases and has a heritability of 40-77%, much greater than for lung cancer with heritability of 15-25%. These data suggest that smokers susceptible to COPD may also be susceptible to lung cancer. This study examines the association of several overlapping chromosomal loci, recently implicated by GWA studies in COPD, lung function and lung cancer, in (n = 1400 subjects sub-phenotyped for the presence of COPD and matched for smoking exposure. Using this approach we show; the 15q25 locus confers susceptibility to lung cancer and COPD, the 4q31 and 4q22 loci both confer a reduced risk to both COPD and lung cancer, the 6p21 locus confers susceptibility to lung cancer in smokers with pre-existing COPD, the 5p15 and 1q23 loci both confer susceptibility to lung cancer in those with no pre-existing COPD. We also show the 5q33 locus, previously associated with reduced FEV(1, appears to confer susceptibility to both COPD and lung cancer. The 6p21 locus previously linked to reduced FEV(1 is associated with COPD only. Larger studies will be needed to distinguish whether these COPD-related effects may reflect, in part, associations specific to different lung cancer histology. We demonstrate that when the "risk genotypes" derived from the univariate analysis are incorporated into an algorithm with clinical variables, independently associated with lung cancer in multivariate analysis, modest discrimination is possible on receiver operator curve analysis (AUC = 0.70. We suggest that genetic susceptibility to lung cancer includes genes conferring susceptibility to COPD and that sub-phenotyping with spirometry is critical to identifying genes underlying the development of lung cancer.

  15. GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians.

    Science.gov (United States)

    Liu, Jiewei; Li, Ming; Su, Bing

    2016-12-01

    Genome-wide association studies (GWASs) have identified multiple schizophrenia (SCZ) risk variants for samples of European and East Asian descent, but most of the identified susceptibility variants are population-specific to either Europeans or East Asians. This strong genetic heterogeneity suggests that differential population histories may play a role in SCZ susceptibility. Here, we explored this possibility by examining the allele frequency divergence of 136 previously reported genome-wide SCZ risk SNPs between European and East Asian populations. Our results showed that two SNPs (rs11038167 and rs11038172) at TSPAN18, reported as genome-wide significant SCZ risk variants in Han Chinese, were entirely monomorphic in Europeans, indicating a deep between-population divergence at this gene locus. To explore the evolutionary history of TSPAN18 in East Asians, we conducted population genetic analyses including multiple neutrality tests, the haplotype-based iHS and EHH tests, as well as haplotype bifurcation map and network constructions. We found that the protective allele of rs11038172 (G allele) had a long extended haplotype with much slower decay compared to the A allele. The star-like shape of the G-allele-carrying haplotypes indicates a recent enrichment in East Asians. Together, the evidences suggest that the protective allele of rs11038172 has experienced recent Darwinian positive selection in East Asians. These findings provide new insights that may help explain the strong genetic heterogeneity in SCZ risk and previous inconsistent association results for SCZ among both Europeans and East Asians. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. Biomedical informatics: we are what we publish.

    Science.gov (United States)

    Elkin, P L; Brown, S H; Wright, G

    2013-01-01

    This article is part of a For-Discussion-Section of Methods of Information in Medicine on "Biomedical Informatics: We are what we publish". It is introduced by an editorial and followed by a commentary paper with invited comments. In subsequent issues the discussion may continue through letters to the editor. Informatics experts have attempted to define the field via consensus projects which has led to consensus statements by both AMIA. and by IMIA. We add to the output of this process the results of a study of the Pubmed publications with abstracts from the field of Biomedical Informatics. We took the terms from the AMIA consensus document and the terms from the IMIA definitions of the field of Biomedical Informatics and combined them through human review to create the Health Informatics Ontology. We built a terminology server using the Intelligent Natural Language Processor (iNLP). Then we downloaded the entire set of articles in Medline identified by searching the literature by "Medical Informatics" OR "Bioinformatics". The articles were parsed by the joint AMIA / IMIA terminology and then again using SNOMED CT and for the Bioinformatics they were also parsed using HGNC Ontology. We identified 153,580 articles using "Medical Informatics" and 20,573 articles using "Bioinformatics". This resulted in 168,298 unique articles and an overlap of 5,855 articles. Of these 62,244 articles (37%) had titles and abstracts that contained at least one concept from the Health Informatics Ontology. SNOMED CT indexing showed that the field interacts with most all clinical fields of medicine. Further defining the field by what we publish can add value to the consensus driven processes that have been the mainstay of the efforts to date. Next steps should be to extract terms from the literature that are uncovered and create class hierarchies and relationships for this content. We should also examine the high occurring of MeSH terms as markers to define Biomedical Informatics

  17. Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS.

    Science.gov (United States)

    Pan, David Z; Garske, Kristina M; Alvarez, Marcus; Bhagat, Yash V; Boocock, James; Nikkola, Elina; Miao, Zong; Raulerson, Chelsea K; Cantor, Rita M; Civelek, Mete; Glastonbury, Craig A; Small, Kerrin S; Boehnke, Michael; Lusis, Aldons J; Sinsheimer, Janet S; Mohlke, Karen L; Laakso, Markku; Pajukanta, Päivi; Ko, Arthur

    2018-04-17

    Increased adiposity is a hallmark of obesity and overweight, which affect 2.2 billion people world-wide. Understanding the genetic and molecular mechanisms that underlie obesity-related phenotypes can help to improve treatment options and drug development. Here we perform promoter Capture Hi-C in human adipocytes to investigate interactions between gene promoters and distal elements as a transcription-regulating mechanism contributing to these phenotypes. We find that promoter-interacting elements in human adipocytes are enriched for adipose-related transcription factor motifs, such as PPARG and CEBPB, and contribute to heritability of cis-regulated gene expression. We further intersect these data with published genome-wide association studies for BMI and BMI-related metabolic traits to identify the genes that are under genetic cis regulation in human adipocytes via chromosomal interactions. This integrative genomics approach identifies four cis-eQTL-eGene relationships associated with BMI or obesity-related traits, including rs4776984 and MAP2K5, which we further confirm by EMSA, and highlights 38 additional candidate genes.

  18. Publisher Correction: Measuring progress from nationally determined contributions to mid-century strategies

    Science.gov (United States)

    Iyer, Gokul; Ledna, Catherine; Clarke, Leon; Edmonds, James; McJeon, Haewon; Kyle, Page; Williams, James H.

    2018-03-01

    In the version of this Article previously published, technical problems led to the wrong summary appearing on the homepage, and an incorrect Supplementary Information file being uploaded. Both errors have now been corrected.

  19. A second chance for authors of hijacked journals to publish in legitimate journals.

    Science.gov (United States)

    Jalalian, Mehrdad

    2015-01-01

    This article proposes the republication of articles that have previously been published in counterfeit websites of hijacked journals. The paper also discusses the technical and ethical aspects of republishing such articles.

  20. IAEA publishes first health and safety manual

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1959-01-15

    A 'Manual on the Safe Handling of Radioisotopes' was published in English on 15 Dec ember 1958 by the International Atomic Energy Agency. This is a comprehensive handbook of internationally compiled recommendations for users of radioisotopes. It covers organizational, medical and technical aspects of radiation safety practices. It is also the Agency's first technical publication. French, Russian and Spanish editions will appear shortly. The Manual should prove useful to all users of radioisotopes in industry, medicine, research, etc., but is directed mainly to small scale users who may not have access to other sources of information. The recommendations apply only to radioactivity surpassing the limit of 0,002 microcurie concentration per gram of material; or a total activity of more than 0,1 microcuries in the working areas; this limit is based on the most dangerous radioisotopes. The experts state that the limiting level might be higher for less dangerous isotopes, but recommend that all be treated as potentially dangerous. This would have educational value and avoid accidents caused by misidentification. The Manual also stressed that good radiation safety practices depend on effective organization and warns that even very competent workers sometimes ignore or forget important health and safety requirements.

  1. History of attempts to publish a paper

    International Nuclear Information System (INIS)

    Kowalski, Ludwik

    2006-01-01

    A paper reviewing recent cold fusion claim, written by the author in 2004, has been rejected (without sending it to referees and without offering any criticism) by editors of seven journals, namely, Physics Today (USA), American Scientist (USA), Scientific American (USA), Nature (UK), New Scientist (UK), The Physics Teacher (USA), Science (USA). The present paper has the following contents: 1. Here is how my paper was introduced to the editor of one of the above journals. Other accompanied letters were similar; 2. In rejecting my paper the editor of Physics Today wrote; 3. And here how the editor of American Scientist responded to my submission; 4. Responding to the above I wrote; 5. Seek not the golden egg, seek the goose; 6. In a subsequent reply I wrote; 7. The manuscript was submitted to Scientific American; 8. I then tried to publish the paper in Nature; 9. I then tried another UK journal, New Scientist; 10. My immediate reply; 11. The manuscript was then submitted to the Editor in chief of Science

  2. History of attempts to publish a paper

    Energy Technology Data Exchange (ETDEWEB)

    Kowalski, Ludwik [Department of Mathematical Sciences, Montclair State University, 341, Brook Avenue, Passaic NJ, 07055 (United States)

    2006-07-01

    A paper reviewing recent cold fusion claim, written by the author in 2004, has been rejected (without sending it to referees and without offering any criticism) by editors of seven journals, namely, Physics Today (USA), American Scientist (USA), Scientific American (USA), Nature (UK), New Scientist (UK), The Physics Teacher (USA), Science (USA). The present paper has the following contents: 1. Here is how my paper was introduced to the editor of one of the above journals. Other accompanied letters were similar; 2. In rejecting my paper the editor of Physics Today wrote; 3. And here how the editor of American Scientist responded to my submission; 4. Responding to the above I wrote; 5. Seek not the golden egg, seek the goose; 6. In a subsequent reply I wrote; 7. The manuscript was submitted to Scientific American; 8. I then tried to publish the paper in Nature; 9. I then tried another UK journal, New Scientist; 10. My immediate reply; 11. The manuscript was then submitted to the Editor in chief of Science.

  3. New developments in publishing related to authorship.

    Science.gov (United States)

    Donev, Doncho

    2014-01-01

    To present the inappropriate types of authorship and practice, and the most recent developments related to basic principles and criteria to a fair system for allocating authorship in scientific publications. An analysis of relevant materials and documents, sources from the internet and published literature and personal experience and observations of the author. Working in multidisciplinary teams is a common feature of modern research processes. The most sensitive question is how to decide on who to acknowledge as author of a multi-authored publication. The pertinence of this question is growing with the increasing importance of individual scientists' publication records for professional status and career. However, discussions about authorship allocation might lead to serious conflicts and disputes among coworkers which could even endanger cooperation and successful completion of a research project. It seems that discussion and education about ethical standards and practical guidelines for fairly allocating authorship are insufficient and the question of ethical practices related to authorship in multi-authored publications remains generally unresolved. It is necessary to work for raising awareness about the importance and need for education about principles of scientific communication and fair allocation of authorship, ethics of research and publication of results. The use of various forms of education in the scientific community, especially young researchers and students, in order to create an ethical environment, is one of the most effective ways to prevent the emergence of scientific and publication dishonesty and fraud, including pathology of authorship.

  4. IAEA publishes first health and safety manual

    International Nuclear Information System (INIS)

    1959-01-01

    A 'Manual on the Safe Handling of Radioisotopes' was published in English on 15 Dec ember 1958 by the International Atomic Energy Agency. This is a comprehensive handbook of internationally compiled recommendations for users of radioisotopes. It covers organizational, medical and technical aspects of radiation safety practices. It is also the Agency's first technical publication. French, Russian and Spanish editions will appear shortly. The Manual should prove useful to all users of radioisotopes in industry, medicine, research, etc., but is directed mainly to small scale users who may not have access to other sources of information. The recommendations apply only to radioactivity surpassing the limit of 0,002 microcurie concentration per gram of material; or a total activity of more than 0,1 microcuries in the working areas; this limit is based on the most dangerous radioisotopes. The experts state that the limiting level might be higher for less dangerous isotopes, but recommend that all be treated as potentially dangerous. This would have educational value and avoid accidents caused by misidentification. The Manual also stressed that good radiation safety practices depend on effective organization and warns that even very competent workers sometimes ignore or forget important health and safety requirements

  5. Publishing integrity and good practices in editing in biomedicine.

    Science.gov (United States)

    Polenakovic, Momir; Gucev, Zoran

    2014-01-01

    accept reports which support the reviewer's concepts of thinking and, like Procrustes, cutting everything else out. Authorship is often a contentious issue, as undeserved authors appear on the list of authors. Some principles are now a norm in academic publishing. This applies to the declaration of a conflict of interest, the consent of the patient and the approval of the Ethical Board of the institution. This global informational technological revolution has, unfortunately, led to largely widespread and increasingly sophisticated deviations: plagiarism, data fabrication and data falsification as forms of scientific misconduct. Those events are now more widespread than in the past. Luckily new tools to track them are much better than previously. The race for perfect publishing integrity and for the best good practices in editing in biomedicine is on. New and old challenges will be met. The benevolent and caring society, educated professionals and an enlightened public remain essential preconditions. The wealth of nations depends on R&D and consequently on academic publishing.

  6. Why should we publish Linked Data?

    Science.gov (United States)

    Blower, Jon; Riechert, Maik; Koubarakis, Manolis; Pace, Nino

    2016-04-01

    We use the Web every day to access information from all kinds of different sources. But the complexity and diversity of scientific data mean that discovering accessing and interpreting data remains a large challenge to researchers, decision-makers and other users. Different sources of useful information on data, algorithms, instruments and publications are scattered around the Web. How can we link all these things together to help users to better understand and exploit earth science data? How can we combine scientific data with other relevant data sources, when standards for describing and sharing data vary so widely between communities? "Linked Data" is a term that describes a set of standards and "best practices" for sharing data on the Web (http://www.w3.org/standards/semanticweb/data). These principles can be summarised as follows: 1. Create unique and persistent identifiers for the important "things" in a community (e.g. datasets, publications, algorithms, instruments). 2. Allow users to "look up" these identifiers on the web to find out more information about them. 3. Make this information machine-readable in a community-neutral format (such as RDF, Resource Description Framework). 4. Within this information, embed links to other things and concepts and say how these are related. 5. Optionally, provide web service interfaces to allow the user to perform sophisticated queries over this information (using a language such as SPARQL). The promise of Linked Data is that, through these techniques, data will be more discoverable, more comprehensible and more usable by different communities, not just the community that produced the data. As a result, many data providers (particularly public-sector institutions) are now publishing data in this way. However, this area is still in its infancy in terms of real-world applications. Data users need guidance and tools to help them use Linked Data. Data providers need reassurance that the investments they are making in

  7. Data publishing - visions of the future

    Science.gov (United States)

    Schäfer, Leonie; Klump, Jens; Bertelmann, Roland; Klar, Jochen; Enke, Harry; Rathmann, Torsten; Koudela, Daniela; Köhler, Klaus; Müller-Pfefferkorn, Ralph; van Uytvanck, Dieter; Strathmann, Stefan; Engelhardt, Claudia

    2013-04-01

    This poster describes future scenarios of information infrastructures in science and other fields of research. The scenarios presented are based on practical experience resulting from interaction with research data in a research center and its library, and further enriched by the results of a baseline study of existing data repositories and data infrastructures. The baseline study was conducted as part of the project "Requirements for a multi-disciplinary research data infrastructure (Radieschen)", which is funded by the German Research Foundation (DFG). Current changes in information infrastructures pose new challenges to libraries and scientific journals, which both act as information service providers, facilitating access to digital media, support publications of research data and enable their long-term archiving. Digital media and research data open new aspects in the field of activity of libraries and scientific journals. What will a library of the future look like? Will a library purely serve as interface to data centres? Will libraries and data centres merge into a new service unit? Will a future library be the interface to academic cloud services? Scientific journals already converted from mostly print editions to print and e-journals. What type of journals will emerge in the future? Is there a role for data-centred journals? Will there be journals to publish software code to make this type of research result citable and a part of the record of science? Just as users evolve from being consumers of information into producers, the role of information service providers, such as libraries, changes from a purely supporting to a contributing role. Furthermore, the role of the library changes from a central point of access for the search of publications to an important link in the value-adding chain from author to publication. Journals for software publication might be another vision for the future in data publishing. Software forms the missing link between big

  8. Utility-preserving anonymization for health data publishing.

    Science.gov (United States)

    Lee, Hyukki; Kim, Soohyung; Kim, Jong Wook; Chung, Yon Dohn

    2017-07-11

    Publishing raw electronic health records (EHRs) may be considered as a breach of the privacy of individuals because they usually contain sensitive information. A common practice for the privacy-preserving data publishing is to anonymize the data before publishing, and thus satisfy privacy models such as k-anonymity. Among various anonymization techniques, generalization is the most commonly used in medical/health data processing. Generalization inevitably causes information loss, and thus, various methods have been proposed to reduce information loss. However, existing generalization-based data anonymization methods cannot avoid excessive information loss and preserve data utility. We propose a utility-preserving anonymization for privacy preserving data publishing (PPDP). To preserve data utility, the proposed method comprises three parts: (1) utility-preserving model, (2) counterfeit record insertion, (3) catalog of the counterfeit records. We also propose an anonymization algorithm using the proposed method. Our anonymization algorithm applies full-domain generalization algorithm. We evaluate our method in comparison with existence method on two aspects, information loss measured through various quality metrics and error rate of analysis result. With all different types of quality metrics, our proposed method show the lower information loss than the existing method. In the real-world EHRs analysis, analysis results show small portion of error between the anonymized data through the proposed method and original data. We propose a new utility-preserving anonymization method and an anonymization algorithm using the proposed method. Through experiments on various datasets, we show that the utility of EHRs anonymized by the proposed method is significantly better than those anonymized by previous approaches.

  9. Civility in scientific publishing: The glyphosate paper.

    Science.gov (United States)

    Blaylock, Russell Lane

    2015-01-01

    In recent years, we have witnessed a decline in civility in the public arena when various socially sensitive issues are being presented. Those of us engaged in the publishing of scientific papers and in our comments on these papers, need to be cognizant of the social graces, courteous demeanor, and chivalry. Debates are essential to our learning and in being able to ferret out the essentials of various scientific issues that are of value. Because of the amount of time and effort connected with analyzing the complex problems and the years invested in such endeavors, we often resort to the behavior, that is, contentious and at times even quite insulting to our opponents during our defense. This is the part of human nature but as civilized human beings, we must strive to maintain the courtesy and a calm demeanor during such discussions and debates. I have yielded to such temptations myself but am striving to repent of my sins. The medical and scientific history should have taught us that in defending our ideas we learn and sometimes come to the realization that our paradigm or hypothesis is wrong, either in part or whole. Such debates allow us to fine tune our ideas and correct our errors in thinking, which are easily, consciously, or subconsciously sublimated by our enthusiasm. The glyphosate papers presented ideas that, while well supported by the scientific studies and logical conclusions, also contained some possible errors in its suppositions. Dr. Miguel Faria challenged some of these concepts and was met with some degree of derision by one of the authors. This editorial comment is in response to these issues.

  10. Mixed media : feminist presses and publishing politics in twentieth-century Britain

    OpenAIRE

    Murray, S. E.

    1999-01-01

    The high cultural profile of contemporary feminist publishing in Britain has previously met with a curiously evasive response from those spheres of academic discourse in which it might be expected to figure: women's studies, while asserting the innate politicality of all communication, has tended to overlook the subject of publishing in favour of less materialist cultural modes; while publishing studies has conventionally overlooked the significance of gender as a differential ...

  11. HEART TRANSPLANTATION IN PATIENTS WITH PREVIOUS OPEN HEART SURGERY

    Directory of Open Access Journals (Sweden)

    R. Sh. Saitgareev

    2016-01-01

    Full Text Available Heart Transplantation (HTx to date remains the most effective and radical method of treatment of patients with end-stage heart failure. The defi cit of donor hearts is forcing to resort increasingly to the use of different longterm mechanical circulatory support systems, including as a «bridge» to the follow-up HTx. According to the ISHLT Registry the number of recipients underwent cardiopulmonary bypass surgery increased from 40% in the period from 2004 to 2008 to 49.6% for the period from 2009 to 2015. HTx performed in repeated patients, on the one hand, involves considerable technical diffi culties and high risks; on the other hand, there is often no alternative medical intervention to HTx, and if not dictated by absolute contradictions the denial of the surgery is equivalent to 100% mortality. This review summarizes the results of a number of published studies aimed at understanding the immediate and late results of HTx in patients, previously underwent open heart surgery. The effect of resternotomy during HTx and that of the specifi c features associated with its implementation in recipients previously operated on open heart, and its effects on the immediate and long-term survival were considered in this review. Results of studies analyzing the risk factors for perioperative complications in repeated recipients were also demonstrated. Separately, HTx risks after implantation of prolonged mechanical circulatory support systems were examined. The literature does not allow to clearly defi ning the impact factor of earlier performed open heart surgery on the course of perioperative period and on the prognosis of survival in recipients who underwent HTx. On the other hand, subject to the regular fl ow of HTx and the perioperative period the risks in this clinical situation are justifi ed as a long-term prognosis of recipients previously conducted open heart surgery and are comparable to those of patients who underwent primary HTx. Studies

  12. An Updated and Comprehensive Meta-Analysis of Association Between Seven Hot Loci Polymorphisms from Eight GWAS and Glioma Risk.

    Science.gov (United States)

    Wu, Qiang; Peng, Yanyan; Zhao, Xiaotao

    2016-09-01

    Eight genome-wide association studies (GWASs) found that seven loci (rs2736100, rs4295627, rs4977756, rs498872, rs11979158, rs2252586, rs6010620) polymorphisms could elevate the risk of glioma, one of the most common types of primary brain cancer in adults. However, the replication studies about these seven loci obtained inconsistent results. In order to derive a more accurate estimation about the relationship between the selected single-nucleotide polymorphism (SNP) and susceptibility to glioma, we conducted a meta-analysis containing all eligible published case control studies to evaluate the association. An overall literature search was conducted using the database of PubMed, Science Direct, China national knowledge infrastructure (CNKI), and Embase. Seventeen articles with 25 studies were included in the meta-analysis. Glioma risk (odds ratio, OR; 95 % confidential interval, 95 %CI) was estimated with the random-effect model or the fixed-effects model. STATA 12.0 was applied to analyze all statistical data. Results showed that seven hot loci were all associated with increased risk of glioma (rs2736100, OR = 1.28, 95 %CI = 1.23-1.32; rs4295627, OR = 1.34, 95 %CI = 1.21-1.47; rs4977756, OR = 1.24, 95 %CI = 1.20-1.28; rs498872, OR = 1.24, 95 %CI = 1.15-1.33; rs6010620, OR = 1.29, 95 %CI = 1.24-1.35; rs11979158: OR = 1.18, 95 %CI = 1.10-1.25; rs2252586: OR = 1.18, 95 %CI = 1.10-1.25). Additionally, subgroup analysis by stages of glioma found that variation of rs11979158 had stronger relationship with high-grade (OR = 1.32, 95 %CI = 1.19-1.45) than low-grade glioma (OR = 1.12, 95 % CI = 1.03-1.21). Similarly, stratified analysis of rs2252586 by stages revealed the similar trend, with OR of 1.26 (95 %CI = 1.17-1.35) in high-grade glioma and OR of 1.15 (95 %CI = 1.08-1.22) in low-grade glioma. In summary, the present study showed that mutations of the seven loci could elevate

  13. GWAS analysis using interspecific backcross progenies reveals superior blue catfish alleles responsible for strong resistance against enteric septicemia of catfish.

    Science.gov (United States)

    Tan, Suxu; Zhou, Tao; Wang, Wenwen; Jin, Yulin; Wang, Xiaozhu; Geng, Xin; Luo, Jian; Yuan, Zihao; Yang, Yujia; Shi, Huitong; Gao, Dongya; Dunham, Rex; Liu, Zhanjiang

    2018-05-08

    Infectious diseases pose significant threats to the catfish industry. Enteric septicemia of catfish (ESC) caused by Edwardsiella ictaluri is the most devastating disease for catfish aquaculture, causing huge economic losses annually. Channel catfish and blue catfish exhibit great contrast in resistance against ESC, with channel catfish being highly susceptible and blue catfish being highly resistant. As such, the interspecific backcross progenies provide an ideal system for the identification of quantitative trait locus (QTL). We previously reported one significant QTL on linkage group (LG) 1 using the third-generation backcrosses, but the number of founders used to make the second- and third-generation backcross progenies was very small. Although the third-generation backcross progenies provided a greater power for fine mapping than the first-generation backcrosses, some major QTL for disease resistance may have been missing due to the small numbers of founders used to produce the higher generation backcrosses. In this study, we performed a genome-wide association study using first-generation backcrosses with the catfish 690 K SNP arrays to identify additional ESC disease resistance QTL, especially those at the species level. Two genomic regions on LG1 and LG23 were determined to be significantly associated with ESC resistance as revealed by a mixed linear model and family-based association test. Examination of the resistance alleles indicated their origin from blue catfish, indicating that at least two major disease resistance loci exist among blue catfish populations. Upon further validation, markers linked with major ESC disease resistance QTL should be useful for marker-assisted introgression, allowing development of highly ESC resistant breeds of catfish.

  14. Music Consumption and Publishing in Todays Music Industry : Music publishing for an independent record label

    OpenAIRE

    Pienimäki, Kristian

    2015-01-01

    For the last two decades the changes in music technology and music consumption have affected music publishing as well as its viability. Much due to music digitalization and the overall decline in physical sales, the music industry has been forced to re-evaluate the means of publishing. The topic of the thesis is of current interest since the music industry is still in the state of change and new research is important. The thesis was assigned by an independent record label called Meiän Mu...

  15. Behind the Spam: A ``Spectral Analysis'' of Predatory Publishers

    Science.gov (United States)

    Beall, Jeffrey

    2016-10-01

    Most researchers today are bombarded with spam email solicitations from questionable scholarly publishers. These emails solicit article manuscripts, editorial board service, and even ad hoc peer reviews. These ``predatory'' publishers exploit the scholarly publishing process, patterning themselves after legitimate scholarly publishers yet performing little or no peer review and quickly accepting submitted manuscripts and collecting fees from submitting authors. These counterfeit publishers and journals have published much junk science? especially in the field of cosmology? threatening the integrity of the academic record. This paper examines the current state of predatory publishing and advises researchers how to navigate scholarly publishing to best avoid predatory publishers and other scholarly publishing-related perils.

  16. Urethrotomy has a much lower success rate than previously reported.

    Science.gov (United States)

    Santucci, Richard; Eisenberg, Lauren

    2010-05-01

    We evaluated the success rate of direct vision internal urethrotomy as a treatment for simple male urethral strictures. A retrospective chart review was performed on 136 patients who underwent urethrotomy from January 1994 through March 2009. The Kaplan-Meier method was used to analyze stricture-free probability after the first, second, third, fourth and fifth urethrotomy. Patients with complex strictures (36) were excluded from the study for reasons including previous urethroplasty, neophallus or previous radiation, and 24 patients were lost to followup. Data were available for 76 patients. The stricture-free rate after the first urethrotomy was 8% with a median time to recurrence of 7 months. For the second urethrotomy stricture-free rate was 6% with a median time to recurrence of 9 months. For the third urethrotomy stricture-free rate was 9% with a median time to recurrence of 3 months. For procedures 4 and 5 stricture-free rate was 0% with a median time to recurrence of 20 and 8 months, respectively. Urethrotomy is a popular treatment for male urethral strictures. However, the performance characteristics are poor. Success rates were no higher than 9% in this series for first or subsequent urethrotomy during the observation period. Most of the patients in this series will be expected to experience failure with longer followup and the expected long-term success rate from any (1 through 5) urethrotomy approach is 0%. Urethrotomy should be considered a temporizing measure until definitive curative reconstruction can be planned. 2010 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  17. Places, Publishers and Personal Ties; the relational qualities of urban environments for book publishers

    NARCIS (Netherlands)

    Heebels, B.; van Aalst, I.; Atzema, O.A.L.C.

    2014-01-01

    Book publishers act as cultural mediators. Personal networks and face-to-face contacts with authors, booksellers, colleagues and people from the press are crucial for their business. This is in accordance with the literature on cultural entrepreneurship, which emphasizes the importance of informal

  18. Social participation: redesign of education, research, and practice in occupational therapy. Previously published in Scandinavian Journal of Occupational Therapy 2013; 20: 2-8.

    Science.gov (United States)

    Piškur, Barbara

    2014-01-01

    There is growing attention to participation and social participation in literature and policy reports. Occupational therapists strongly believe that creating coherence between the person's occupations and environment will facilitate participation of each individual. Nowadays, societal developments such as "health literacy and self-management", "Web 2.0 social media", "empowering communities", and "Nothing About Us Without Us" increase opportunities for people to interact on different levels of social participation. Social participation can be used as an outcome, though it can also be seen as a means to change society and to develop solutions for barriers experienced by people with chronic diseases or disabilities. Societal developments will have an impact on social participation in terms of supporting each other and contributing to society. Additionally, these changes will have a major influence on the way we educate, conduct research, and deliver occupational therapy practice.

  19. Population-based Neisseria gonorrhoeae, Chlamydia trachomatis and Trichomonas vaginalis Prevalence Using Discarded, Deidentified Urine Specimens Previously Collected for Drug Testing (Open Access Publisher’s Version)

    Science.gov (United States)

    2017-10-24

    trichomonas vaginalis testing, Melinda Balansay-ames, chris Myers and gary Brice for Pcr- based sex determination testing, and Kimberly De Vera for...2017-053355 rEFErEnCEs 1 torrone e , Papp J, Weinstock H. centers for Disease control and Prevention (cDc). Prevalence of Chlamydia trachomatis genital...infection among persons aged 14-39 years-United States, 2007-2012. MMWR Morb Mortal Wkly Rep 2014;63:834–7. 2 rietmeijer ca, Hopkins e , geisler WM

  20. δ-dependency for privacy-preserving XML data publishing.

    Science.gov (United States)

    Landberg, Anders H; Nguyen, Kinh; Pardede, Eric; Rahayu, J Wenny

    2014-08-01

    An ever increasing amount of medical data such as electronic health records, is being collected, stored, shared and managed in large online health information systems and electronic medical record systems (EMR) (Williams et al., 2001; Virtanen, 2009; Huang and Liou, 2007) [1-3]. From such rich collections, data is often published in the form of census and statistical data sets for the purpose of knowledge sharing and enabling medical research. This brings with it an increasing need for protecting individual people privacy, and it becomes an issue of great importance especially when information about patients is exposed to the public. While the concept of data privacy has been comprehensively studied for relational data, models and algorithms addressing the distinct differences and complex structure of XML data are yet to be explored. Currently, the common compromise method is to convert private XML data into relational data for publication. This ad hoc approach results in significant loss of useful semantic information previously carried in the private XML data. Health data often has very complex structure, which is best expressed in XML. In fact, XML is the standard format for exchanging (e.g. HL7 version 3(1)) and publishing health information. Lack of means to deal directly with data in XML format is inevitably a serious drawback. In this paper we propose a novel privacy protection model for XML, and an algorithm for implementing this model. We provide general rules, both for transforming a private XML schema into a published XML schema, and for mapping private XML data to the new privacy-protected published XML data. In addition, we propose a new privacy property, δ-dependency, which can be applied to both relational and XML data, and that takes into consideration the hierarchical nature of sensitive data (as opposed to "quasi-identifiers"). Lastly, we provide an implementation of our model, algorithm and privacy property, and perform an experimental analysis

  1. Towards mainstreaming of biodiversity data publishing: recommendations of the GBIF Data Publishing Framework Task Group.

    Science.gov (United States)

    Moritz, Tom; Krishnan, S; Roberts, Dave; Ingwersen, Peter; Agosti, Donat; Penev, Lyubomir; Cockerill, Matthew; Chavan, Vishwas

    2011-01-01

    Data are the evidentiary basis for scientific hypotheses, analyses and publication, for policy formation and for decision-making. They are essential to the evaluation and testing of results by peer scientists both present and future. There is broad consensus in the scientific and conservation communities that data should be freely, openly available in a sustained, persistent and secure way, and thus standards for 'free' and 'open' access to data have become well developed in recent years. The question of effective access to data remains highly problematic. Specifically with respect to scientific publishing, the ability to critically evaluate a published scientific hypothesis or scientific report is contingent on the examination, analysis, evaluation - and if feasible - on the re-generation of data on which conclusions are based. It is not coincidental that in the recent 'climategate' controversies, the quality and integrity of data and their analytical treatment were central to the debate. There is recent evidence that even when scientific data are requested for evaluation they may not be available. The history of dissemination of scientific results has been marked by paradigm shifts driven by the emergence of new technologies. In recent decades, the advance of computer-based technology linked to global communications networks has created the potential for broader and more consistent dissemination of scientific information and data. Yet, in this digital era, scientists and conservationists, organizations and institutions have often been slow to make data available. Community studies suggest that the withholding of data can be attributed to a lack of awareness, to a lack of technical capacity, to concerns that data should be withheld for reasons of perceived personal or organizational self interest, or to lack of adequate mechanisms for attribution. There is a clear need for institutionalization of a 'data publishing framework' that can address sociocultural

  2. Towards mainstreaming of biodiversity data publishing: recommendations of the GBIF Data Publishing Framework Task Group

    Directory of Open Access Journals (Sweden)

    Moritz Tom

    2011-12-01

    Full Text Available Abstract Background Data are the evidentiary basis for scientific hypotheses, analyses and publication, for policy formation and for decision-making. They are essential to the evaluation and testing of results by peer scientists both present and future. There is broad consensus in the scientific and conservation communities that data should be freely, openly available in a sustained, persistent and secure way, and thus standards for 'free' and 'open' access to data have become well developed in recent years. The question of effective access to data remains highly problematic. Discussion Specifically with respect to scientific publishing, the ability to critically evaluate a published scientific hypothesis or scientific report is contingent on the examination, analysis, evaluation - and if feasible - on the re-generation of data on which conclusions are based. It is not coincidental that in the recent 'climategate' controversies, the quality and integrity of data and their analytical treatment were central to the debate. There is recent evidence that even when scientific data are requested for evaluation they may not be available. The history of dissemination of scientific results has been marked by paradigm shifts driven by the emergence of new technologies. In recent decades, the advance of computer-based technology linked to global communications networks has created the potential for broader and more consistent dissemination of scientific information and data. Yet, in this digital era, scientists and conservationists, organizations and institutions have often been slow to make data available. Community studies suggest that the withholding of data can be attributed to a lack of awareness, to a lack of technical capacity, to concerns that data should be withheld for reasons of perceived personal or organizational self interest, or to lack of adequate mechanisms for attribution. Conclusions There is a clear need for institutionalization of a

  3. Identification of a regulatory variant that binds FOXA1 and FOXA2 at the CDC123/CAMK1D type 2 diabetes GWAS locus.

    Directory of Open Access Journals (Sweden)

    Marie P Fogarty

    2014-09-01

    Full Text Available Many of the type 2 diabetes loci identified through genome-wide association studies localize to non-protein-coding intronic and intergenic regions and likely contain variants that regulate gene transcription. The CDC123/CAMK1D type 2 diabetes association signal on chromosome 10 spans an intergenic region between CDC123 and CAMK1D and also overlaps the CDC123 3'UTR. To gain insight into the molecular mechanisms underlying the association signal, we used open chromatin, histone modifications and transcription factor ChIP-seq data sets from type 2 diabetes-relevant cell types to identify SNPs overlapping predicted regulatory regions. Two regions containing type 2 diabetes-associated variants were tested for enhancer activity using luciferase reporter assays. One SNP, rs11257655, displayed allelic differences in transcriptional enhancer activity in 832/13 and MIN6 insulinoma cells as well as in human HepG2 hepatocellular carcinoma cells. The rs11257655 risk allele T showed greater transcriptional activity than the non-risk allele C in all cell types tested. Using electromobility shift and supershift assays we demonstrated that the rs11257655 risk allele showed allele-specific binding to FOXA1 and FOXA2. We validated FOXA1 and FOXA2 enrichment at the rs11257655 risk allele using allele-specific ChIP in human islets. These results suggest that rs11257655 affects transcriptional activity through altered binding of a protein complex that includes FOXA1 and FOXA2, providing a potential molecular mechanism at this GWAS locus.

  4. Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK in disease susceptibility.

    Directory of Open Access Journals (Sweden)

    Chia-Jung Chang

    Full Text Available The BLK and CD40 loci have been associated with Kawasaki disease (KD in two genome-wide association studies (GWAS conducted in a Taiwanese population of Han Chinese ancestry (Taiwanese and in Japanese cohorts. Here we build on these findings with replication studies of the BLK and CD40 loci in populations of Korean and European descent. The BLK region was significantly associated with KD susceptibility in both populations. Within the BLK gene the rs2736340-located linkage disequilibrium (LD comprising the promoter and first intron was strongly associated with KD, with the combined results of Asian studies including Taiwanese, Japanese, and Korean populations (2,539 KD patients and 7,021 controls providing very compelling evidence of association (rs2736340, OR = 1.498, 1.354-1.657; P = 4.74×10(-31. We determined the percentage of B cells present in the peripheral blood mononuclear cell (PBMC population and the expression of BLK in the peripheral blood leukocytes (leukocytes of KD patients during the acute and convalescent stages. The percentage of B cells in the PBMC population and the expression of BLK in leukocytes were induced in patients in the acute stage of KD. In B cell lines derived from KD patients, and in purified B cells from KD patients obtained during the acute stage, those with the risk allele of rs2736340 expressed significantly lower levels of BLK. These results suggest that peripheral B cells play a pathogenic role during the acute stage of KD. Decreased BLK expression in peripheral blood B cells may alter B cell function and predispose individuals to KD. These associative data suggest a role for B cells during acute KD. Understanding the functional implications may facilitate the development of B cell-mediated therapy for KD.

  5. Toxoplasma gondii and schizophrenia: a review of published RCTs.

    Science.gov (United States)

    Chorlton, Sam D

    2017-07-01

    Over the last 60 years, accumulating evidence has suggested that acute, chronic, and maternal Toxoplasma gondii infections predispose to schizophrenia. More recent evidence suggests that chronically infected patients with schizophrenia present with more severe disease. After acute infection, parasites form walled cysts in the brain, leading to lifelong chronic infection and drug resistance to commonly used antiparasitics. Chronic infection is the most studied and closely linked with development and severity of schizophrenia. There are currently four published randomized controlled trials evaluating antiparasitic drugs, specifically azithromycin, trimethoprim, artemisinin, and artemether, in patients with schizophrenia. No trials have demonstrated a change in psychopathology with adjunctive treatment. Published trials have either selected drugs without evidence against chronic infection or used them at doses too low to reduce brain cyst burden. Furthermore, trials have failed to achieve sufficient power or account for confounders such as previous antipsychotic treatment, sex, age, or rhesus status on antiparasitic effect. There are currently no ongoing trials of anti-Toxoplasma therapy in schizophrenia despite ample evidence to justify further testing.

  6. Perception of Key Barriers in Using and Publishing Open Data

    Directory of Open Access Journals (Sweden)

    Martin Beno

    2017-12-01

    Full Text Available TThere is a growing body of literature recognizing the benefits of Open Data. However, many potential data providers are unwilling to publish their data and at the same time, data users are often faced with difficulties when attempting to use Open Data in practice. Despite various barriers in using and publishing Open Data still being present, studies which systematically collect and assess these barriers are rare. Based on this observation we present a review on prior literature on barriers and the results of an empirical study aimed at assessing both the users’ and publishers’ views on obstacles regarding Open Data adoption. We collected data with an online survey in Austria and internationally. Using a sample of 183 participants, we draw conclusions about the relative importance of the barriers reported in the literature. In comparison to a previous conference paper presented at the conference for E-Democracy and Open Government, this article includes new additional data from participants outside Austria, reports new analyses, and substantially extends the discussion of results and of possible strategies for the mitigation of Open Data barriers.

  7. Publishing for Learned Societies: The Secret Life of a Scholarly Publisher

    Science.gov (United States)

    Nicholson, David

    Wiley-Blackwell was formed in February 2007 as a result of the acquisition of Blackwell Publishing Ltd. by John Wiley & Sons, Inc. and the merger between Blackwell and Wiley's Scientific, Technical, and Medical business. Wiley-Blackwell publishes approximately 1,250 scholarly peer-reviewed journals including Monthly Notices of the Royal Astronomical Society and Astronomische Nachrichten, and has relationships with over 800 learned societies. The "secret life" of the article's title refers to the two broad areas of activity we undertake for our society partners, namely practical assistance and strategic advice. One of our goals at Wiley-Blackwell is to set the standard for both areas, and this article illustrates how we are doing this with a series of tangible examples.

  8. The GBIF integrated publishing toolkit: facilitating the efficient publishing of biodiversity data on the internet.

    Directory of Open Access Journals (Sweden)

    Tim Robertson

    Full Text Available The planet is experiencing an ongoing global biodiversity crisis. Measuring the magnitude and rate of change more effectively requires access to organized, easily discoverable, and digitally-formatted biodiversity data, both legacy and new, from across the globe. Assembling this coherent digital representation of biodiversity requires the integration of data that have historically been analog, dispersed, and heterogeneous. The Integrated Publishing Toolkit (IPT is a software package developed to support biodiversity dataset publication in a common format. The IPT's two primary functions are to 1 encode existing species occurrence datasets and checklists, such as records from natural history collections or observations, in the Darwin Core standard to enhance interoperability of data, and 2 publish and archive data and metadata for broad use in a Darwin Core Archive, a set of files following a standard format. Here we discuss the key need for the IPT, how it has developed in response to community input, and how it continues to evolve to streamline and enhance the interoperability, discoverability, and mobilization of new data types beyond basic Darwin Core records. We close with a discussion how IPT has impacted the biodiversity research community, how it enhances data publishing in more traditional journal venues, along with new features implemented in the latest version of the IPT, and future plans for more enhancements.

  9. Technical Writing Teachers and the Challenges of Desktop Publishing.

    Science.gov (United States)

    Kalmbach, James

    1988-01-01

    Argues that technical writing teachers must understand desktop publishing. Discusses the strengths that technical writing teachers bring to desktop publishing, and the impact desktop publishing will have on technical writing courses and programs. (ARH)

  10. Writing and Publishing Books in Counseling: A Survey of Authors.

    Science.gov (United States)

    Seligman, Linda; Kelly, Shirley C.

    1990-01-01

    Presents data and ideas from 74 authors who published books in counseling field. Reviews writing and publishing process. Provides information on timetables, book contracts, and remuneration as well as suggestions on publisher selection and contract negotiation. (Author/CM)

  11. Establishing a publishing outfit in Nigeria | Emenyonu | International ...

    African Journals Online (AJOL)

    Journal Home > Vol 12, No 1 (2017) > ... The paper examines the steps in establishing a publishing firm in the Nigerian environment. ... to follow in establishing a publishing company, networking with stakeholders in the publishing industry,the ...

  12. Persistent seropositivity for yellow fever in a previously vaccinated autologous hematopoietic stem cell transplantation recipient.

    Science.gov (United States)

    Hayakawa, Kayoko; Takasaki, Tomohiko; Tsunemine, Hiroko; Kanagawa, Shuzo; Kutsuna, Satoshi; Takeshita, Nozomi; Mawatari, Momoko; Fujiya, Yoshihiro; Yamamoto, Kei; Ohmagari, Norio; Kato, Yasuyuki

    2015-08-01

    The duration of a protective level of yellow fever antibodies after autologous hematopoietic stem cell transplantation in a previously vaccinated person is unclear. The case of a patient who had previously been vaccinated for yellow fever and who remained seropositive for 22 months after autologous peripheral blood stem cell transplantation for malignant lymphoma is described herein. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  13. GWAS, Cytomegalovirus Infection, and Schizophrenia

    DEFF Research Database (Denmark)

    Grove, Jakob; Børglum, Anders; Pearce, Brad D

    2014-01-01

    In recent years, good progress has been made in uncovering the genetic underpinnings of schizophrenia. Even so, as a polygenic disorder, schizophrenia has a complex etiology that is far from understood. Meanwhile, data are being collected enabling the study of interactions between genes...... and the environment. A confluence of data from genetic and environmental exposure studies point to the role of infections and immunity in the pathophysiology of schizophrenia. In a recent study by Børglum et al., a single nucleotide polymorphism (SNP) in the gene CTNNA3 was identified that may provide clues to gene......-environment interactions. The carriers of the minor allele for the SNP had a fivefold risk of later developing schizophrenia if their mothers were CMV positive, while the children not carrying the allele had no excess risk from maternal CMV. In the current paper, we summarize recent advances to clarify a possible...

  14. Gene set analysis for GWAS

    DEFF Research Database (Denmark)

    Debrabant, Birgit; Soerensen, Mette

    2014-01-01

    Abstract We discuss the use of modified Kolmogorov-Smirnov (KS) statistics in the context of gene set analysis and review corresponding null and alternative hypotheses. Especially, we show that, when enhancing the impact of highly significant genes in the calculation of the test statistic, the co...

  15. 44 CFR 5.21 - Effect of failure to publish.

    Science.gov (United States)

    2010-10-01

    ... 44 Emergency Management and Assistance 1 2010-10-01 2010-10-01 false Effect of failure to publish... failure to publish. 5 U.S.C. 552(a)(1) provides that, except to the extent that a person has actual and... adversely affected by, a matter required to be published in the Federal Register and not so published. ...

  16. 22 CFR 212.11 - Materials to be published.

    Science.gov (United States)

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Materials to be published. 212.11 Section 212... Federal Register § 212.11 Materials to be published. (a) USAID separately states and currently publishes... section. (b) USAID Public Notice No. 1 and the USAID Regulations published in chapter II of Title 22 and...

  17. 15 CFR 10.13 - Withdrawal of a published standard.

    Science.gov (United States)

    2010-01-01

    ...) Before withdrawing a standard published under these procedures, the Director will review the relative... 15 Commerce and Foreign Trade 1 2010-01-01 2010-01-01 false Withdrawal of a published standard. 10... DEVELOPMENT OF VOLUNTARY PRODUCT STANDARDS § 10.13 Withdrawal of a published standard. (a) Standards published...

  18. The Ins and the Outs of Electronic Publishing.

    Science.gov (United States)

    Wills, Mathew; Wills, Gordon

    1996-01-01

    Examines electronic publishing for academic and professional publishers. Discusses benefits of electronic publishing to authors and readers, argues that the hard sell and product-driven mindsets will not work in a customer-focused communications medium, and outlines characteristics of electronic publishing that must be incorporated in successful…

  19. Behind the Spam: A "Spectral Analysis" of Predatory Publishers

    Science.gov (United States)

    Beall, Jeffrey

    2015-08-01

    Most researchers today are bombarded with spam email solicitations from questionable scholarly publishers. These emails solicit article manuscripts, editorial board service, and even ad hoc peer reviews. These "predatory" publishers exploit the scholarly publishing process, patterning themselves after legitimate scholarly publishers yet performing little or no peer review and quickly accepting submitted manuscripts and collecting fees from submitting authors. These counterfeit publishers and journals have published much junk science — especially in the field of cosmology — threatening the integrity of the academic record. This presentation examines the current state of predatory publishing and related scams such as fake impact factors and advises researchers how to navigate scholarly publishing to best avoid predatory publishers and other scholarly publishing-related perils.

  20. EDITORIAL: Roberts Prize for the best paper published in 2010 Roberts Prize for the best paper published in 2010

    Science.gov (United States)

    Webb, Steve; Harris, Simon

    2011-08-01

    The publishers of Physics in Medicine and Biology (PMB), IOP Publishing, in association with the journal owners, the Institute of Physics and Engineering in Medicine (IPEM), jointly award an annual prize for the best paper published in PMB during the previous year. The procedure for deciding the winner has been made as thorough as possible, to try to ensure that an outstanding paper wins the prize. We started off with a shortlist of the 10 research papers published in 2010 which were rated the best based on the referees' quality assessments. Following the submission of a short 'case for winning' document by each of the shortlisted authors, an IPEM college of jurors of the status of FIPEM assessed and rated these 10 papers in order to choose a winner, which was then endorsed by the Editorial Board. We have much pleasure in advising readers that the Roberts Prize for the best paper published in 2010 is awarded to M M Paulides et al from Erasmus MC, Rotterdam, The Netherlands, for their paper on hyperthermia treatment: The clinical feasibility of deep hyperthermia treatment in the head and neck: new challenges for positioning and temperature measurement M M Paulides, J F Bakker, M Linthorst, J van der Zee, Z Rijnen, E Neufeld, P M T Pattynama, P P Jansen, P C Levendag and G C van Rhoon 2010 Phys. Med. Biol. 55 2465 Our congratulations go to these authors. Of course all of the shortlisted papers were of great merit, and the full top-10 is listed below (in alphabetical order). Steve Webb Editor-in-Chief Simon Harris Publisher References Alonzo-Proulx O, Packard N, Boone J M, Al-Mayah A, Brock K K, Shen S Z and Yaffe M J 2010 Validation of a method for measuring the volumetric breast density from digital mammograms Phys. Med. Biol. 55 3027 Bian J, Siewerdsen J H, Han X, Sidky E Y, Prince J L, Pelizzari C A and Pan X 2010 Evaluation of sparse-view reconstruction from flat-panel-detector cone-beam CT Phys. Med. Biol. 55 6575 Brun M-A, Formanek F, Yasuda A, Sekine M, Ando N