{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T18:21:20Z","timestamp":1759774880536},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"23","license":[{"start":{"date-parts":[[2016,10,2]],"date-time":"2016-10-02T00:00:00Z","timestamp":1475366400000},"content-version":"vor","delay-in-days":767,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: Genome-wide association studies (GWAS) have identified many loci implicated in disease susceptibility. Integration of GWAS summary statistics (P-values) and functional genomic datasets should help to elucidate mechanisms.<\/jats:p>\n               <jats:p>Results: We extended a non-parametric SNP set enrichment method to test for enrichment of GWAS signals in functionally defined loci to a situation where only GWAS P-values are available. The approach is implemented in VSEAMS, a freely available software pipeline. We use VSEAMS to identify enrichment of type 1 diabetes (T1D) GWAS associations near genes that are targets for the transcription factors IKZF3, BATF and ESRRA. IKZF3 lies in a known T1D susceptibility region, while BATF and ESRRA overlap other immune disease susceptibility regions, validating our approach and suggesting novel avenues of research for T1D.<\/jats:p>\n               <jats:p>Availability and implementation: VSEAMS is available for download (http:\/\/github.com\/ollyburren\/vseams).<\/jats:p>\n               <jats:p>Contact: chris.wallace@cimr.cam.ac.uk<\/jats:p>\n               <jats:p>Supplementary information: Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btu571","type":"journal-article","created":{"date-parts":[[2014,8,29]],"date-time":"2014-08-29T00:22:23Z","timestamp":1409271743000},"page":"3342-3348","source":"Crossref","is-referenced-by-count":15,"title":["VSEAMS: a pipeline for variant set enrichment analysis using summary GWAS data identifies <i>IKZF3<\/i>, <i>BATF<\/i> and <i>ESRRA<\/i> as key transcription factors in type 1 diabetes"],"prefix":"10.1093","volume":"30","author":[{"given":"Oliver S.","family":"Burren","sequence":"first","affiliation":[{"name":"1 Department of Medical Genetics, JDRF\/Wellcome Trust Diabetes and Inflammation Laboratory, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust\/MRC Building, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK and 2MRC Biostatistics Unit, Cambridge Institute of Public Health, Forvie Site, Robinson Way, Cambridge Biomedical Campus, Cambridge, CB2 0SR, UK"}]},{"given":"Hui","family":"Guo","sequence":"additional","affiliation":[{"name":"1 Department of Medical Genetics, JDRF\/Wellcome Trust Diabetes and Inflammation Laboratory, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust\/MRC Building, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK and 2MRC Biostatistics Unit, Cambridge Institute of Public Health, Forvie Site, Robinson Way, Cambridge Biomedical Campus, Cambridge, CB2 0SR, UK"}]},{"given":"Chris","family":"Wallace","sequence":"additional","affiliation":[{"name":"1 Department of Medical Genetics, JDRF\/Wellcome Trust Diabetes and Inflammation Laboratory, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust\/MRC Building, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK and 2MRC Biostatistics Unit, Cambridge Institute of Public Health, Forvie Site, Robinson Way, Cambridge Biomedical Campus, Cambridge, CB2 0SR, UK"},{"name":"1 Department of Medical Genetics, JDRF\/Wellcome Trust Diabetes and Inflammation Laboratory, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust\/MRC Building, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK and 2MRC Biostatistics Unit, Cambridge Institute of Public Health, Forvie Site, Robinson Way, Cambridge Biomedical Campus, Cambridge, CB2 0SR, UK"}]}],"member":"286","published-online":{"date-parts":[[2014,8,27]]},"reference":[{"key":"2023012712032215700_btu571-B1","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/ng.381","article-title":"Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes","volume":"41","author":"Barrett","year":"2009","journal-title":"Nat. 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