{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:34:56Z","timestamp":1761863696365},"reference-count":4,"publisher":"Oxford University Press (OUP)","issue":"17","license":[{"start":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T00:00:00Z","timestamp":1493683200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/about_us\/legal\/notices"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Summary<\/jats:title>\n                  <jats:p>We developed the STOPGAP (Systematic Target OPportunity assessment by Genetic Association Predictions) database, an extensive catalog of human genetic associations mapped to effector gene candidates. STOPGAP draws on a variety of publicly available GWAS associations, linkage disequilibrium (LD) measures, functional genomic and variant annotation sources. Algorithms were developed to merge the association data, partition associations into non-overlapping LD clusters, map variants to genes and produce a variant-to-gene score used to rank the relative confidence among potential effector genes. This database can be used for a multitude of investigations into the genes and genetic mechanisms underlying inter-individual variation in human traits, as well as supporting drug discovery applications.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>Shell, R, Perl and Python scripts and STOPGAP R data files (version 2.5.1 at publication) are available at https:\/\/github.com\/StatGenPRD\/STOPGAP. Some of the most useful STOPGAP fields can be queried through an R Shiny web application at http:\/\/stopgapwebapp.com.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Supplementary information<\/jats:title>\n                  <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btx274","type":"journal-article","created":{"date-parts":[[2017,4,29]],"date-time":"2017-04-29T03:09:51Z","timestamp":1493435391000},"page":"2784-2786","source":"Crossref","is-referenced-by-count":32,"title":["STOPGAP: a database for systematic target opportunity assessment by genetic association predictions"],"prefix":"10.1093","volume":"33","author":[{"given":"Judong","family":"Shen","sequence":"first","affiliation":[{"name":"Biostatistics and Research Decision Sciences, Merck Research Laboratories, Rahway, NJ, USA"}]},{"given":"Kijoung","family":"Song","sequence":"additional","affiliation":[{"name":"Target Sciences, GSK, King of Prussia, Philadelphia, PA, USA"}]},{"given":"Andrew J","family":"Slater","sequence":"additional","affiliation":[{"name":"OmicSoft Corporation, Cary, NC, USA"}]},{"given":"Enrico","family":"Ferrero","sequence":"additional","affiliation":[{"name":"Target Sciences, GSK, Stevenage, UK"}]},{"given":"Matthew R","family":"Nelson","sequence":"additional","affiliation":[{"name":"Target Sciences, GSK, King of Prussia, Philadelphia, PA, USA"}]}],"member":"286","published-online":{"date-parts":[[2017,5,2]]},"reference":[{"key":"2023020206272923200_btx274-B1","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1056\/NEJMoa1502214","article-title":"FTO obesity variant circuitry and adipocyte browning in humans","volume":"373","author":"Claussnitzer","year":"2015","journal-title":"N. Engl. J. Med"},{"key":"2023020206272923200_btx274-B2","doi-asserted-by":"crossref","first-page":"1190.","DOI":"10.1126\/science.1222794","article-title":"Systematic localization of common disease-associated variation in regulatory DNA","volume":"337","author":"Maurano","year":"2012","journal-title":"Science"},{"key":"2023020206272923200_btx274-B3","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1038\/ng.3314","article-title":"The support of human genetic evidence for approved drug indications","volume":"47","author":"Nelson","year":"2015","journal-title":"Nat. Genet"},{"key":"2023020206272923200_btx274-B4","doi-asserted-by":"crossref","first-page":"D1001","DOI":"10.1093\/nar\/gkt1229","article-title":"The NHGRI GWAS Catalog, a curated resource of SNP-trait associations","volume":"42","author":"Welter","year":"2014","journal-title":"Nucleic Acids Res"}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/33\/17\/2784\/49041091\/bioinformatics_33_17_2784.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/33\/17\/2784\/49041091\/bioinformatics_33_17_2784.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T06:28:23Z","timestamp":1675319303000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/33\/17\/2784\/3788008"}},"subtitle":[],"editor":[{"given":"Janet","family":"Kelso","sequence":"additional","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2017,5,2]]},"references-count":4,"journal-issue":{"issue":"17","published-print":{"date-parts":[[2017,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/btx274","relation":{},"ISSN":["1367-4803","1367-4811"],"issn-type":[{"value":"1367-4803","type":"print"},{"value":"1367-4811","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,9,1]]},"published":{"date-parts":[[2017,5,2]]}}}