{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T20:16:17Z","timestamp":1776888977489,"version":"3.51.2"},"reference-count":28,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2019,10,15]],"date-time":"2019-10-15T00:00:00Z","timestamp":1571097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Health Data Research UK"},{"name":"UKRI Innovation Fellowship","award":["MR\/S003703\/1"],"award-info":[{"award-number":["MR\/S003703\/1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The GWAS Central resource provides a toolkit for integrative access and visualization of a uniquely extensive collection of genome-wide association study data, while ensuring safe open access to prevent research participant identification. GWAS Central is the world's most comprehensive openly accessible repository of summary-level GWAS association information, providing over 70 million P-values for over 3800 studies investigating over 1400 unique phenotypes. The database content comprises direct submissions received from GWAS authors and consortia, in addition to actively gathered data sets from various public sources. GWAS data are discoverable from the perspective of genetic markers, genes, genome regions or phenotypes, via graphical visualizations and detailed downloadable data reports. Tested genetic markers and relevant genomic features can be visually interrogated across up to sixteen multiple association data sets in a single view using the integrated genome browser. The semantic standardization of phenotype descriptions with Medical Subject Headings and the Human Phenotype Ontology allows the precise identification of genetic variants associated with diseases, phenotypes and traits of interest. Harmonization of the phenotype descriptions used across several GWAS-related resources has extended the phenotype search capabilities to enable cross-database study discovery using a range of ontologies. GWAS Central is updated regularly and available at https:\/\/www.gwascentral.org.<\/jats:p>","DOI":"10.1093\/nar\/gkz895","type":"journal-article","created":{"date-parts":[[2019,10,2]],"date-time":"2019-10-02T07:17:54Z","timestamp":1570000674000},"source":"Crossref","is-referenced-by-count":32,"title":["GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies"],"prefix":"10.1093","author":[{"given":"Tim","family":"Beck","sequence":"first","affiliation":[{"name":"Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK"},{"name":"Health Data Research UK, University of Leicester, Leicester LE1 7RH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom","family":"Shorter","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK"},{"name":"Health Data Research UK, University of Leicester, Leicester LE1 7RH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony J","family":"Brookes","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK"},{"name":"Health Data Research UK, University of Leicester, Leicester LE1 7RH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,10,15]]},"reference":[{"key":"2019101504385602600_B1","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1056\/NEJMp0808934","article-title":"Genomewide association studies\u2013illuminating biologic pathways","volume":"360","author":"Hirschhorn","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"2019101504385602600_B2","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2017.06.005","article-title":"10 years of GWAS discovery: biology, function, and translation","volume":"101","author":"Visscher","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2019101504385602600_B3","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature12873","article-title":"Genetics of rheumatoid arthritis contributes to biology and drug discovery","volume":"506","author":"Okada","year":"2013","journal-title":"Nature"},{"key":"2019101504385602600_B4","doi-asserted-by":"crossref","first-page":"3701","DOI":"10.1093\/bioinformatics\/btz172","article-title":"Gene-based association tests using GWAS summary statistics","volume":"35","author":"Svishcheva","year":"2019","journal-title":"Bioinformatics"},{"key":"2019101504385602600_B5","doi-asserted-by":"crossref","first-page":"D975","DOI":"10.1093\/nar\/gkt1211","article-title":"NCBI\u2019s database of genotypes and phenotypes: dbGaP","volume":"42","author":"Tryka","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"2019101504385602600_B6","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1038\/ng.3312","article-title":"The european genome-phenome archive of human data consented for biomedical research","volume":"47","author":"Lappalainen","year":"2015","journal-title":"Nat. Genet."},{"key":"2019101504385602600_B7","doi-asserted-by":"crossref","first-page":"D1005","DOI":"10.1093\/nar\/gky1120","article-title":"The NHGRI-EBI GWAS catalog of published genome-wide association studies, targeted arrays and summary statistics 2019","volume":"47","author":"Buniello","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2019101504385602600_B8","doi-asserted-by":"crossref","first-page":"D869","DOI":"10.1093\/nar\/gkv1317","article-title":"GWASdb v2: An update database for human genetic variants identified by genome-wide association studies","volume":"44","author":"Li","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"2019101504385602600_B9","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1471-2350-10-6","article-title":"An open access database of genome-wide association results","volume":"10","author":"Johnson","year":"2009","journal-title":"BMC Med. Genet."},{"key":"2019101504385602600_B10","first-page":"144","article-title":"Phenotype\u2013Genotype integrator (PheGenI): Synthesizing genome-wide association study (GWAS) data with existing genomic resources","volume":"22","author":"Erin","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"2019101504385602600_B11","doi-asserted-by":"crossref","first-page":"e10557","DOI":"10.7554\/eLife.10557","article-title":"Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures","volume":"5","author":"Wang","year":"2016","journal-title":"eLife"},{"key":"2019101504385602600_B12","doi-asserted-by":"crossref","first-page":"D1018","DOI":"10.1093\/nar\/gky1105","article-title":"Expansion of the human phenotype ontology (HPO) knowledge base and resources","volume":"47","author":"K\u00f6hler","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2019101504385602600_B13","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1093\/bioinformatics\/btq099","article-title":"Modeling sample variables with an experimental factor ontology","volume":"26","author":"Malone","year":"2010","journal-title":"Bioinformatics"},{"key":"2019101504385602600_B14","doi-asserted-by":"crossref","first-page":"i63","DOI":"10.1093\/bioinformatics\/btp193","article-title":"From disease ontology to disease-ontology lite: Statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations","volume":"25","author":"Du","year":"2009","journal-title":"Bioinformatics"},{"key":"2019101504385602600_B15","volume-title":"International Statistical Classification of Diseases and Related Health Problems: Tenth Revision","author":"WHO","year":"2007"},{"key":"2019101504385602600_B16","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ejhg.2013.274","article-title":"GWAS central: a comprehensive resource for the comparison and interrogation of genome-wide association studies","volume":"22","author":"Beck","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"2019101504385602600_B17","doi-asserted-by":"crossref","first-page":"e1000167","DOI":"10.1371\/journal.pgen.1000167","article-title":"Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays","volume":"4","author":"Homer","year":"2008","journal-title":"PLoS Genet."},{"key":"2019101504385602600_B18","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: The NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic. Acids. Res."},{"key":"2019101504385602600_B19","doi-asserted-by":"crossref","first-page":"D955","DOI":"10.1093\/nar\/gky1032","article-title":"Human disease ontology 2018 update: classification, content and workflow expansion","volume":"47","author":"Schriml","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2019101504385602600_B20","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/amiajnl-2011-000523","article-title":"The national center for biomedical ontology","volume":"19","author":"Musen","year":"2012","journal-title":"J. Am. Med. Inform. Assoc."},{"key":"2019101504385602600_B21","doi-asserted-by":"crossref","first-page":"D267","DOI":"10.1093\/nar\/gkh061","article-title":"The unified medical language system (UMLS): Integrating biomedical terminology","volume":"32","author":"Bodenreider","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"2019101504385602600_B22","doi-asserted-by":"crossref","first-page":"W589","DOI":"10.1093\/nar\/gkv350","article-title":"The BioMart community portal: An innovative alternative to large, centralized data repositories","volume":"43","author":"Smedley","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"2019101504385602600_B23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-018-08147-0","article-title":"A GWAS in latin americans highlights the convergent evolution of lighter skin pigmentation in eurasia","volume":"10","author":"Adhikari","year":"2019","journal-title":"Nat. Commun."},{"key":"2019101504385602600_B24","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1242\/dmm.000414","article-title":"Mouse models and the interpretation of human GWAS in type 2 diabetes and obesity","volume":"4","author":"Cox","year":"2011","journal-title":"Dis. Model. Mech."},{"key":"2019101504385602600_B25","doi-asserted-by":"crossref","first-page":"4419","DOI":"10.1172\/JCI129143","article-title":"Gene loci associated with insulin secretion in islets from non-diabetic mice","volume":"129","author":"Keller","year":"2019","journal-title":"J. Clin. Invest."},{"key":"2019101504385602600_B26","doi-asserted-by":"crossref","first-page":"D712","DOI":"10.1093\/nar\/gkw1128","article-title":"The monarch initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species","volume":"45","author":"Mungall","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"2019101504385602600_B27","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/humu.23227","article-title":"DaMold: a data\u2010mining platform for variant annotation and visualization in molecular diagnostics research","volume":"38","author":"Pandey","year":"2017","journal-title":"Hum. Mutat."},{"key":"2019101504385602600_B28","doi-asserted-by":"crossref","first-page":"88","DOI":"10.3163\/1536-5050.104.1.020","article-title":"Data citation index","volume":"104","author":"Pavlech","year":"2016","journal-title":"J. Med. Libr. Assoc."}],"container-title":["Nucleic Acids Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/nar\/advance-article-pdf\/doi\/10.1093\/nar\/gkz895\/30150165\/gkz895.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/nar\/advance-article-pdf\/doi\/10.1093\/nar\/gkz895\/30150165\/gkz895.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,15]],"date-time":"2019-10-15T05:28:02Z","timestamp":1571117282000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/nar\/advance-article\/doi\/10.1093\/nar\/gkz895\/5587637"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,15]]},"references-count":28,"URL":"https:\/\/doi.org\/10.1093\/nar\/gkz895","relation":{},"ISSN":["0305-1048","1362-4962"],"issn-type":[{"value":"0305-1048","type":"print"},{"value":"1362-4962","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,15]]},"article-number":"gkz895"}}