{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T14:25:08Z","timestamp":1750775108664},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2016,10,2]],"date-time":"2016-10-02T00:00:00Z","timestamp":1475366400000},"content-version":"vor","delay-in-days":403,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Summary: High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts arm of the UK10K project, genetic variants called from low-read depth (average 7\u00d7) whole genome sequencing of 3621 cohort individuals were analysed for statistical associations with 64 different phenotypic traits of biomedical importance. Here, we describe a novel genome browser based on the Biodalliance platform developed to provide interactive access to the association results of the project.<\/jats:p>\n               <jats:p>Availability and implementation: The browser is available at http:\/\/www.uk10k.org\/dalliance.html. Source code for the Biodalliance platform is available under a BSD license from http:\/\/github.com\/dasmoth\/dalliance, and for the LD-display plugin and backend from http:\/\/github.com\/dasmoth\/ldserv.<\/jats:p>\n               <jats:p>Contact: ns6@sanger.ac.uk or thomas@biodalliance.org<\/jats:p>\n               <jats:p>Supplementary information: Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btv491","type":"journal-article","created":{"date-parts":[[2015,8,27]],"date-time":"2015-08-27T20:18:54Z","timestamp":1440706734000},"page":"4029-4031","source":"Crossref","is-referenced-by-count":13,"title":["An interactive genome browser of association results from the UK10K cohorts project"],"prefix":"10.1093","volume":"31","author":[{"given":"Matthias","family":"Geihs","sequence":"first","affiliation":[{"name":"1 Wellcome Trust Sanger Institute, Genome Campus, Hinxton CB10 1HH, UK,"}]},{"given":"Ying","family":"Yan","sequence":"additional","affiliation":[{"name":"1 Wellcome Trust Sanger Institute, Genome Campus, Hinxton CB10 1HH, UK,"}]},{"given":"Klaudia","family":"Walter","sequence":"additional","affiliation":[{"name":"1 Wellcome Trust Sanger Institute, Genome Campus, Hinxton CB10 1HH, UK,"}]},{"given":"Jie","family":"Huang","sequence":"additional","affiliation":[{"name":"1 Wellcome Trust Sanger Institute, Genome Campus, Hinxton CB10 1HH, UK,"}]},{"given":"Yasin","family":"Memari","sequence":"additional","affiliation":[{"name":"1 Wellcome Trust Sanger Institute, Genome Campus, Hinxton CB10 1HH, UK,"}]},{"given":"Josine L.","family":"Min","sequence":"additional","affiliation":[{"name":"2 MRC Integrative Epidemiology Unit, University of Bristol, Oakfield Grove, Bristol, UK,"}]},{"given":"Daniel","family":"Mead","sequence":"additional","affiliation":[{"name":"1 Wellcome Trust Sanger Institute, Genome Campus, Hinxton CB10 1HH, UK,"}]},{"name":"UK10K Consortium","sequence":"additional","affiliation":[]},{"given":"Tim J.","family":"Hubbard","sequence":"additional","affiliation":[{"name":"1 Wellcome Trust Sanger Institute, Genome Campus, Hinxton CB10 1HH, UK,"},{"name":"3 Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK,"}]},{"given":"Nicholas J.","family":"Timpson","sequence":"additional","affiliation":[{"name":"2 MRC Integrative Epidemiology Unit, University of Bristol, Oakfield Grove, Bristol, UK,"}]},{"given":"Thomas A.","family":"Down","sequence":"additional","affiliation":[{"name":"4 EMBL-EBI, Hinxton CB10 1SD, UK and"}]},{"given":"Nicole","family":"Soranzo","sequence":"additional","affiliation":[{"name":"1 Wellcome Trust Sanger Institute, Genome Campus, Hinxton CB10 1HH, UK,"},{"name":"5 Department of Haematology, University of Cambridge, Cambridge CB2 1TN, UK"}]}],"member":"286","published-online":{"date-parts":[[2015,8,26]]},"reference":[{"key":"2023051307184358200_btv491-B1","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/nbt.2153","article-title":"BLUEPRINT to decode the epigenetic signature written in blood","volume":"30","author":"Adams","year":"2012","journal-title":"Nat. Biotechnol."},{"key":"2023051307184358200_btv491-B2","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1093\/bioinformatics\/btr020","article-title":"Dalliance: interactive genome viewing on the web","volume":"27","author":"Down","year":"2011","journal-title":"Bioinformatics"},{"key":"2023051307184358200_btv491-B3","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","author":"Encode Project Consortium et\u00a0al","year":"2012","journal-title":"Nature"},{"key":"2023051307184358200_btv491-B4","doi-asserted-by":"crossref","first-page":"2204","DOI":"10.1093\/bioinformatics\/btq351","article-title":"BigWig and BigBed: enabling browsing of large distributed datasets","volume":"26","author":"Kent","year":"2010","journal-title":"Bioinformatics"},{"key":"2023051307184358200_btv491-B5","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1093\/bioinformatics\/btt637","article-title":"Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser","volume":"30","author":"Raney","year":"2014","journal-title":"Bioinformatics"},{"key":"2023051307184358200_btv491-B6","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1038\/nature14248","article-title":"Integrative analysis of 111 reference human epigenomes","volume":"518","author":"Roadmap Epigenomics","year":"2015","journal-title":"Nature"},{"key":"2023051307184358200_btv491-B7","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/nature14962","article-title":"The UK10K project identifies rare variants in health and disease","volume":"526","author":"UK10K Consortium","year":"2015","journal-title":"Nature"}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/31\/24\/4029\/50306968\/bioinformatics_31_24_4029.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/31\/24\/4029\/50306968\/bioinformatics_31_24_4029.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,13]],"date-time":"2023-05-13T03:19:50Z","timestamp":1683947990000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/31\/24\/4029\/197324"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,26]]},"references-count":7,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2015,12,15]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/btv491","relation":{},"ISSN":["1367-4811","1367-4803"],"issn-type":[{"type":"electronic","value":"1367-4811"},{"type":"print","value":"1367-4803"}],"subject":[],"published-other":{"date-parts":[[2015,12,15]]},"published":{"date-parts":[[2015,8,26]]}}}