{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:40:17Z","timestamp":1760784017996},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2016,10,12]],"date-time":"2016-10-12T00:00:00Z","timestamp":1476230400000},"content-version":"vor","delay-in-days":396,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: A plethora of sequenced and genotyped disease cohorts is available to the biomedical research community, spread across many portals and represented in various formats.<\/jats:p>\n               <jats:p>Results: We have gathered several large studies, including GERA and GRU, and computed population- and disease-specific genetic variant frequencies. In total, our portal provides fast access to genetic variants observed in 84\u2009928 individuals from 39 disease populations. We also include 66\u2009335 controls, such as the 1000 Genomes and Scripps Wellderly.<\/jats:p>\n               <jats:p>Conclusion: Combining multiple studies helps validate disease-associated variants in each underlying data set, detect potential false positives using frequencies of control populations, and identify novel candidate disease-causing alterations in known or suspected genes.<\/jats:p>\n               <jats:p>Availability and implementation: \u00a0https:\/\/rvs.u.hpc.mssm.edu\/divas<\/jats:p>\n               <jats:p>Contact: \u00a0rong.chen@mssm.edu<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btv511","type":"journal-article","created":{"date-parts":[[2015,9,13]],"date-time":"2015-09-13T00:08:24Z","timestamp":1442102904000},"page":"151-153","source":"Crossref","is-referenced-by-count":6,"title":["DIVAS: a centralized genetic variant repository representing 150\u2009000 individuals from multiple disease cohorts"],"prefix":"10.1093","volume":"32","author":[{"given":"Wei-Yi","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg","family":"Hakenberg","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuyu Dan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2015,9,12]]},"reference":[{"key":"2023020110201435200_btv511-B1","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1\u2009092 human genomes","volume":"491","author":"1000 Genomes Project Consortium","year":"2012","journal-title":"Nature"},{"key":"2023020110201435200_btv511-B2","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly"},{"key":"2023020110201435200_btv511-B3","author":"European Variation Archive (EVA)"},{"key":"2023020110201435200_btv511-B4","author":"Exome Aggregation Consortium (ExAC)"},{"key":"2023020110201435200_btv511-B5","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.ygeno.2011.04.005","article-title":"Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array","volume":"98","author":"Hoffmann","year":"2011","journal-title":"Genomics"},{"issue":"D1","key":"2023020110201435200_btv511-B6","doi-asserted-by":"crossref","first-page":"D966","DOI":"10.1093\/nar\/gkt1026","article-title":"The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data","volume":"42","author":"K\u00f6hler","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"2023020110201435200_btv511-B7","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"2023020110201435200_btv511-B8","doi-asserted-by":"crossref","first-page":"E2393","DOI":"10.1002\/humu.22376","article-title":"dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations","volume":"34","author":"Liu","year":"2013","journal-title":"Hum. 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