{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T17:43:14Z","timestamp":1775670194447,"version":"3.50.1"},"reference-count":56,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6235","license":[{"start":{"date-parts":[[2016,5,8]],"date-time":"2016-05-08T00:00:00Z","timestamp":1462665600000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.sciencemag.org\/about\/science-licenses-journal-article-reuse"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIGMS R01GM104371"],"award-info":[{"award-number":["NIGMS R01GM104371"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIMH R01MH101814"],"award-info":[{"award-number":["NIMH R01MH101814"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH090941"],"award-info":[{"award-number":["R01MH090941"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG007593"],"award-info":[{"award-number":["U01HG007593"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH101810"],"award-info":[{"award-number":["R01MH101810"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"United States Department of Defense","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["095552\/Z\/11\/Z"],"award-info":[{"award-number":["095552\/Z\/11\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["090532\/Z\/09\/Z"],"award-info":[{"award-number":["090532\/Z\/09\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["98381"],"award-info":[{"award-number":["98381"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000038","name":"Natural Science and Engineering Research Council of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000769","name":"University of Oxford","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000769","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001706","name":"Louis-Jeantet Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001706","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["257654"],"award-info":[{"award-number":["257654"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Clarendon Scholarship"},{"name":"NDM Studentship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2015,5,8]]},"abstract":"<jats:title>Expression, genetic variation, and tissues<\/jats:title>\n          <jats:p>\n            Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this variation on the regulation of gene expression. Furthermore, only a few tissues have been examined per genetic variant. In order to examine how genetic expression varies among tissues within individuals, the Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative genetic traits that affect gene expression and determined which of these exhibit tissue-specific expression patterns. Mel\u00e9\n            <jats:italic>et al.<\/jats:italic>\n            measured how transcription varies among tissues, and Rivas\n            <jats:italic>et al.<\/jats:italic>\n            looked at how truncated protein variants affect expression across tissues.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Science<\/jats:italic>\n            , this issue p.\n            <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6235\" page=\"648\" related-article-type=\"in-this-issue\" vol=\"348\" xlink:href=\"10.1126\/science.1262110\">648<\/jats:related-article>\n            , p.\n            <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6235\" page=\"660\" related-article-type=\"in-this-issue\" vol=\"348\" xlink:href=\"10.1126\/science.aaa0355\">660<\/jats:related-article>\n            , p.\n            <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6235\" page=\"666\" related-article-type=\"in-this-issue\" vol=\"348\" xlink:href=\"10.1126\/science.1261877\">666<\/jats:related-article>\n            ; see also p.\n            <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6235\" page=\"640\" related-article-type=\"in-this-issue\" vol=\"348\" xlink:href=\"10.1126\/science.aab3002\">640<\/jats:related-article>\n          <\/jats:p>","DOI":"10.1126\/science.1261877","type":"journal-article","created":{"date-parts":[[2015,5,7]],"date-time":"2015-05-07T18:11:07Z","timestamp":1431022267000},"page":"666-669","source":"Crossref","is-referenced-by-count":293,"title":["Effect of predicted protein-truncating genetic variants on the human transcriptome"],"prefix":"10.1126","volume":"348","author":[{"given":"Manuel A.","family":"Rivas","sequence":"first","affiliation":[{"name":"Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK."}]},{"given":"Matti","family":"Pirinen","sequence":"additional","affiliation":[{"name":"FInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland."}]},{"given":"Donald F.","family":"Conrad","sequence":"additional","affiliation":[{"name":"Washington University in St. Louis, St. Louis, MO, USA."}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."}]},{"given":"Emily K.","family":"Tsang","sequence":"additional","affiliation":[{"name":"Department of Genetics, Stanford University, Stanford, CA, USA."},{"name":"Department of Pathology, Stanford University, Stanford, CA, USA."},{"name":"Biomedical Informatics Program, Stanford University, Stanford, CA, USA."}]},{"given":"Konrad J.","family":"Karczewski","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."}]},{"given":"Julian B.","family":"Maller","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."}]},{"given":"Kimberly R.","family":"Kukurba","sequence":"additional","affiliation":[{"name":"Department of Genetics, Stanford University, Stanford, CA, USA."},{"name":"Department of Pathology, Stanford University, Stanford, CA, USA."}]},{"given":"David S.","family":"DeLuca","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."}]},{"given":"Menachem","family":"Fromer","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."},{"name":"Department of Psychiatry, Mt. Sinai Hospital, NY, USA."}]},{"given":"Pedro G.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine and Development,University of Geneva, Geneva, Switzerland."},{"name":"Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland."},{"name":"Swiss Institute of Bioinformatics, Geneva, Switzerland."}]},{"given":"Kevin S.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Genetics, Stanford University, Stanford, CA, USA."},{"name":"Department of Pathology, Stanford University, Stanford, CA, USA."}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Genetics, Stanford University, Stanford, CA, USA."}]},{"given":"Fengmei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."}]},{"given":"Eric","family":"Banks","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."}]},{"given":"Ryan","family":"Poplin","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."}]},{"given":"Douglas M.","family":"Ruderfer","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Mt. Sinai Hospital, NY, USA."},{"name":"Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, NY, USA."}]},{"given":"Shaun M.","family":"Purcell","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."},{"name":"Department of Psychiatry, Mt. Sinai Hospital, NY, USA."},{"name":"Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, NY, USA."}]},{"given":"Taru","family":"Tukiainen","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."}]},{"given":"Eric V.","family":"Minikel","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."}]},{"given":"Peter D.","family":"Stenson","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK."}]},{"given":"David N.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK."}]},{"given":"Katharine H.","family":"Huang","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."}]},{"given":"Timothy J.","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."}]},{"given":"Jared","family":"Nedzel","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."}]},{"name":"The GTEx Consortium","sequence":"additional","affiliation":[]},{"name":"The Geuvadis Consortium","sequence":"additional","affiliation":[]},{"given":"Carlos D.","family":"Bustamante","sequence":"additional","affiliation":[{"name":"Department of Genetics, Stanford University, Stanford, CA, USA."}]},{"given":"Jin Billy","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Genetics, Stanford University, Stanford, CA, USA."}]},{"given":"Mark J.","family":"Daly","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."}]},{"given":"Roderic","family":"Guigo","sequence":"additional","affiliation":[{"name":"Center for Genomic Regulation (CRG), Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain."}]},{"given":"Peter","family":"Donnelly","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK."},{"name":"Department of Statistics, University of Oxford, Oxford, UK."}]},{"given":"Kristin","family":"Ardlie","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."}]},{"given":"Michael","family":"Sammeth","sequence":"additional","affiliation":[{"name":"Center for Genomic Regulation (CRG), Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain."},{"name":"National Institute for Scientific Computing (LNCC), Petropolis, Rio de Janeiro, Brazil."}]},{"given":"Emmanouil T.","family":"Dermitzakis","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine and Development,University of Geneva, Geneva, Switzerland."},{"name":"Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland."},{"name":"Swiss Institute of Bioinformatics, Geneva, Switzerland."}]},{"given":"Mark I.","family":"McCarthy","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK."},{"name":"Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK."}]},{"given":"Stephen B.","family":"Montgomery","sequence":"additional","affiliation":[{"name":"Department of Genetics, Stanford University, Stanford, CA, USA."},{"name":"Department of Pathology, Stanford University, Stanford, CA, USA."}]},{"given":"Tuuli","family":"Lappalainen","sequence":"additional","affiliation":[{"name":"Department of Genetics, Stanford University, Stanford, CA, USA."},{"name":"Department of Genetic Medicine and Development,University of Geneva, Geneva, Switzerland."},{"name":"Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland."},{"name":"Swiss Institute of Bioinformatics, Geneva, Switzerland."},{"name":"New York Genome Center, New York, NY, USA."}]},{"given":"Daniel G.","family":"MacArthur","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard, Cambridge, MA, USA."},{"name":"Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA."},{"name":"Department of Medicine, Harvard Medical School, Boston, MA, USA."}]},{"given":"Ayellet V.","family":"Segre","sequence":"additional","affiliation":[]},{"given":"Taylor R.","family":"Young","sequence":"additional","affiliation":[]},{"given":"Ellen T.","family":"Gelfand","sequence":"additional","affiliation":[]},{"given":"Casandra A.","family":"Trowbridge","sequence":"additional","affiliation":[]},{"given":"Lucas D.","family":"Ward","sequence":"additional","affiliation":[]},{"given":"Pouya","family":"Kheradpour","sequence":"additional","affiliation":[]},{"given":"Benjamin","family":"Iriarte","sequence":"additional","affiliation":[]},{"given":"Yan","family":"Meng","sequence":"additional","affiliation":[]},{"given":"Cameron D.","family":"Palmer","sequence":"additional","affiliation":[]},{"given":"Tonu","family":"Esko","sequence":"additional","affiliation":[]},{"given":"Wendy","family":"Winckler","sequence":"additional","affiliation":[]},{"given":"Joel","family":"Hirschhorn","sequence":"additional","affiliation":[]},{"given":"Manolis","family":"Kellis","sequence":"additional","affiliation":[]},{"given":"Gad","family":"Getz","sequence":"additional","affiliation":[]},{"given":"Andrey A.","family":"Shablin","sequence":"additional","affiliation":[]},{"given":"Gen","family":"Li","sequence":"additional","affiliation":[]},{"given":"Yi-Hui","family":"Zhou","sequence":"additional","affiliation":[]},{"given":"Andrew B.","family":"Nobel","sequence":"additional","affiliation":[]},{"given":"Ivan","family":"Rusyn","sequence":"additional","affiliation":[]},{"given":"Fred A.","family":"Wright","sequence":"additional","affiliation":[]},{"given":"Alexis","family":"Battle","sequence":"additional","affiliation":[]},{"given":"Sara","family":"Mostafavi","sequence":"additional","affiliation":[]},{"given":"Marta","family":"Mele","sequence":"additional","affiliation":[]},{"given":"Ferran","family":"Reverter","sequence":"additional","affiliation":[]},{"given":"Jakob","family":"Goldmann","sequence":"additional","affiliation":[]},{"given":"Daphne","family":"Koller","sequence":"additional","affiliation":[]},{"given":"Eric R.","family":"Gamazon","sequence":"additional","affiliation":[]},{"given":"Hae Kyung","family":"Im","sequence":"additional","affiliation":[]},{"given":"Anuar","family":"Konkashbaev","sequence":"additional","affiliation":[]},{"given":"Dan L.","family":"Nicolae","sequence":"additional","affiliation":[]},{"given":"Nancy J.","family":"Cox","sequence":"additional","affiliation":[]},{"given":"Timothe","family":"Flutre","sequence":"additional","affiliation":[]},{"given":"Xiaoquan","family":"Wen","sequence":"additional","affiliation":[]},{"given":"Matthew","family":"Stephens","sequence":"additional","affiliation":[]},{"given":"Jonathan K.","family":"Pritchard","sequence":"additional","affiliation":[]},{"given":"Zhidong","family":"Tu","sequence":"additional","affiliation":[]},{"given":"Bin","family":"Zhang","sequence":"additional","affiliation":[]},{"given":"Tao","family":"Huang","sequence":"additional","affiliation":[]},{"given":"Quan","family":"Long","sequence":"additional","affiliation":[]},{"given":"Luan","family":"Lin","sequence":"additional","affiliation":[]},{"given":"Jialiang","family":"Yang","sequence":"additional","affiliation":[]},{"given":"Jun","family":"Zhu","sequence":"additional","affiliation":[]},{"given":"Jun","family":"Liu","sequence":"additional","affiliation":[]},{"given":"Amanda","family":"Brown","sequence":"additional","affiliation":[]},{"given":"Bernadette","family":"Mestichelli","sequence":"additional","affiliation":[]},{"given":"Denee","family":"Tidwell","sequence":"additional","affiliation":[]},{"given":"Edmund","family":"Lo","sequence":"additional","affiliation":[]},{"given":"Mike","family":"Salvatore","sequence":"additional","affiliation":[]},{"given":"Saboor","family":"Shad","sequence":"additional","affiliation":[]},{"given":"Jeffrey A.","family":"Thomas","sequence":"additional","affiliation":[]},{"given":"John T.","family":"Lonsdale","sequence":"additional","affiliation":[]},{"given":"Roswell Christopher","family":"Choi","sequence":"additional","affiliation":[]},{"given":"Ellen","family":"Karasik","sequence":"additional","affiliation":[]},{"given":"Kimberly","family":"Ramsey","sequence":"additional","affiliation":[]},{"given":"Michael T.","family":"Moser","sequence":"additional","affiliation":[]},{"given":"Barbara A.","family":"Foster","sequence":"additional","affiliation":[]},{"given":"Bryan M.","family":"Gillard","sequence":"additional","affiliation":[]},{"given":"John","family":"Syron","sequence":"additional","affiliation":[]},{"given":"Johnelle","family":"Fleming","sequence":"additional","affiliation":[]},{"given":"Harold","family":"Magazine","sequence":"additional","affiliation":[]},{"given":"Rick","family":"Hasz","sequence":"additional","affiliation":[]},{"given":"Gary D.","family":"Walters","sequence":"additional","affiliation":[]},{"given":"Jason P.","family":"Bridge","sequence":"additional","affiliation":[]},{"given":"Mark","family":"Miklos","sequence":"additional","affiliation":[]},{"given":"Susan","family":"Sullivan","sequence":"additional","affiliation":[]},{"given":"Laura K.","family":"Barker","sequence":"additional","affiliation":[]},{"given":"Heather","family":"Traino","sequence":"additional","affiliation":[]},{"given":"Magboeba","family":"Mosavel","sequence":"additional","affiliation":[]},{"given":"Laura A.","family":"Siminoff","sequence":"additional","affiliation":[]},{"given":"Dana R.","family":"Valley","sequence":"additional","affiliation":[]},{"given":"Daniel C.","family":"Rohrer","sequence":"additional","affiliation":[]},{"given":"Scott","family":"Jewel","sequence":"additional","affiliation":[]},{"given":"Philip","family":"Branton","sequence":"additional","affiliation":[]},{"given":"Leslie H.","family":"Sobin","sequence":"additional","affiliation":[]},{"given":"Mary","family":"Barcus","sequence":"additional","affiliation":[]},{"given":"Liqun","family":"Qi","sequence":"additional","affiliation":[]},{"given":"Pushpa","family":"Hariharan","sequence":"additional","affiliation":[]},{"given":"Shenpei","family":"Wu","sequence":"additional","affiliation":[]},{"given":"David","family":"Tabor","sequence":"additional","affiliation":[]},{"given":"Charles","family":"Shive","sequence":"additional","affiliation":[]},{"given":"Anna M.","family":"Smith","sequence":"additional","affiliation":[]},{"given":"Stephen A.","family":"Buia","sequence":"additional","affiliation":[]},{"given":"Anita H.","family":"Undale","sequence":"additional","affiliation":[]},{"given":"Karna L.","family":"Robinson","sequence":"additional","affiliation":[]},{"given":"Nancy","family":"Roche","sequence":"additional","affiliation":[]},{"given":"Kimberly M.","family":"Valentino","sequence":"additional","affiliation":[]},{"given":"Angela","family":"Britton","sequence":"additional","affiliation":[]},{"given":"Robin","family":"Burges","sequence":"additional","affiliation":[]},{"given":"Debra","family":"Bradbury","sequence":"additional","affiliation":[]},{"given":"Kenneth W.","family":"Hambright","sequence":"additional","affiliation":[]},{"given":"John","family":"Seleski","sequence":"additional","affiliation":[]},{"given":"Greg E.","family":"Korzeniewski","sequence":"additional","affiliation":[]},{"given":"Kenyon","family":"Erickson","sequence":"additional","affiliation":[]},{"given":"Yvonne","family":"Marcus","sequence":"additional","affiliation":[]},{"given":"Jorge","family":"Tejada","sequence":"additional","affiliation":[]},{"given":"Mehran","family":"Taherian","sequence":"additional","affiliation":[]},{"given":"Chunrong","family":"Lu","sequence":"additional","affiliation":[]},{"given":"Barnaby E.","family":"Robles","sequence":"additional","affiliation":[]},{"given":"Margaret","family":"Basile","sequence":"additional","affiliation":[]},{"given":"Deborah C.","family":"Mash","sequence":"additional","affiliation":[]},{"given":"Simona","family":"Volpi","sequence":"additional","affiliation":[]},{"given":"Jeffery P.","family":"Struewing","sequence":"additional","affiliation":[]},{"given":"Gary F.","family":"Temple","sequence":"additional","affiliation":[]},{"given":"Joy","family":"Boyer","sequence":"additional","affiliation":[]},{"given":"Deborah","family":"Colantuoni","sequence":"additional","affiliation":[]},{"given":"Roger","family":"Little","sequence":"additional","affiliation":[]},{"given":"Susan","family":"Koester","sequence":"additional","affiliation":[]},{"given":"Latarsha J.","family":"Carithers","sequence":"additional","affiliation":[]},{"given":"Helen M.","family":"Moore","sequence":"additional","affiliation":[]},{"given":"Ping","family":"Guan","sequence":"additional","affiliation":[]},{"given":"Carolyn","family":"Compton","sequence":"additional","affiliation":[]},{"given":"Sherilyn J.","family":"Sawyer","sequence":"additional","affiliation":[]},{"given":"Joanne P.","family":"Demchok","sequence":"additional","affiliation":[]},{"given":"Jimmie B.","family":"Vaught","sequence":"additional","affiliation":[]},{"given":"Chana A.","family":"Rabiner","sequence":"additional","affiliation":[]},{"given":"Nicole C.","family":"Lockhart","sequence":"additional","affiliation":[]},{"given":"Marc R.","family":"Friedlander","sequence":"additional","affiliation":[]},{"given":"Peter A. C.","family":"\u2019t Hoen","sequence":"additional","affiliation":[]},{"given":"Jean","family":"Monlong","sequence":"additional","affiliation":[]},{"given":"Mar","family":"Gonz\u00e0lez-Porta","sequence":"additional","affiliation":[]},{"given":"Natalja","family":"Kurbatova","sequence":"additional","affiliation":[]},{"given":"Thasso","family":"Griebel","sequence":"additional","affiliation":[]},{"given":"Matthias","family":"Barann","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"Wieland","sequence":"additional","affiliation":[]},{"given":"Liliana","family":"Greger","sequence":"additional","affiliation":[]},{"given":"Maarten","family":"van Iterson","sequence":"additional","affiliation":[]},{"given":"Jonas","family":"Almlof","sequence":"additional","affiliation":[]},{"given":"Paolo","family":"Ribeca","sequence":"additional","affiliation":[]},{"given":"Irina","family":"Pulyakhina","sequence":"additional","affiliation":[]},{"given":"Daniela","family":"Esser","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"Giger","sequence":"additional","affiliation":[]},{"given":"Andrew","family":"Tikhonov","sequence":"additional","affiliation":[]},{"given":"Marc","family":"Sultan","sequence":"additional","affiliation":[]},{"given":"Gabrielle","family":"Bertier","sequence":"additional","affiliation":[]},{"given":"Esther","family":"Lizano","sequence":"additional","affiliation":[]},{"given":"Henk P. J.","family":"Buermans","sequence":"additional","affiliation":[]},{"given":"Ismael","family":"Padioleau","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"Schwarzmayr","sequence":"additional","affiliation":[]},{"given":"Olof","family":"Karlberg","sequence":"additional","affiliation":[]},{"given":"Halit","family":"Ongen","sequence":"additional","affiliation":[]},{"given":"Helena","family":"Kilpinen","sequence":"additional","affiliation":[]},{"given":"Sergi","family":"Beltran","sequence":"additional","affiliation":[]},{"given":"Marta","family":"Gut","sequence":"additional","affiliation":[]},{"given":"Katja","family":"Kahlem","sequence":"additional","affiliation":[]},{"given":"Vyacheslav","family":"Amstislavskiy","sequence":"additional","affiliation":[]},{"given":"Oliver","family":"Stegle","sequence":"additional","affiliation":[]},{"given":"Paul","family":"Flicek","sequence":"additional","affiliation":[]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[]},{"given":"Hans","family":"Lehrach","sequence":"additional","affiliation":[]},{"given":"Stefan","family":"Schreiber","sequence":"additional","affiliation":[]},{"given":"Ralf","family":"Sudbrak","sequence":"additional","affiliation":[]},{"given":"Angel","family":"Carracedo","sequence":"additional","affiliation":[]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[]},{"given":"Robert","family":"Hasler","sequence":"additional","affiliation":[]},{"given":"Ann-Christine","family":"Syvanen","sequence":"additional","affiliation":[]},{"given":"Gert-Jan","family":"van Ommen","sequence":"additional","affiliation":[]},{"given":"Alvis","family":"Brazma","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[]},{"given":"Philip","family":"Rosenstiel","sequence":"additional","affiliation":[]},{"given":"Ivo G.","family":"Gut","sequence":"additional","affiliation":[]},{"given":"Xavier","family":"Estivill","sequence":"additional","affiliation":[]}],"member":"221","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1403"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa054013"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1215040"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature12531"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2702"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2653"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1262110"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004304"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2736"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.148718.112"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.119784.110"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-14-536"},{"key":"e_1_3_2_16_2","first-page":"btv074","article-title":"Assessing allele-specific expression across multiple tissues from RNA-seq read data","volume":"2015","author":"Pirinen M.","year":"2015","unstructured":"Pirinen M., Lappalainen T., Zaitlen N. A., Dermitzakis E. T., Donnelly P., McCarthy M. I., Rivas M. A.GTEx Consortium, Assessing allele-specific expression across multiple tissues from RNA-seq read data. Bioinformatics 2015, btv074 (2015).25819081","journal-title":"Bioinformatics"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg054"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001154"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/gbe\/evp054"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/gbe\/evr023"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1048803"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1186\/gm543"},{"key":"e_1_3_2_24_2","first-page":"525","article-title":"Splicing of precursors to mRNAs by the spliceosomes","volume":"37","author":"Burge C. B.","year":"1999","unstructured":"Burge C. B., Tuschl T., Sharp P. A., Splicing of precursors to mRNAs by the spliceosomes. Cold Spring Harbor Monogr. Arch. 37, 525\u2013560 (1999).","journal-title":"Cold Spring Harbor Monogr. Arch."},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1254806"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001016"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature12975"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/97.3-4.639"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_3_2_32_2","first-page":"11.10.1","article-title":"From FastQ data to high confidence variant calls: The Genome Analysis Toolkit best practices pipeline","volume":"11","author":"Van der Auwera G. A.","year":"2013","unstructured":"Van der Auwera G. A., Carneiro M. O., Hartl C., Poplin R., Del Angel G., Levy-Moonshine A., Jordan T., Shakir K., Roazen D., Thibault J., Banks E., Garimella K. V., Altshuler D., Gabriel S., DePristo M. A., From FastQ data to high confidence variant calls: The Genome Analysis Toolkit best practices pipeline. Curr. Protoc. Bioinformatics 11, 11.10.1\u201311.10.33 (2013).25431634","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr330"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.206"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.005"},{"key":"e_1_3_2_36_2","first-page":"7.23.1","article-title":"Using XHMM software to detect copy number variation in whole-exome sequencing data","volume":"81","author":"Fromer M.","year":"2014","unstructured":"Fromer M., Purcell S. M., Using XHMM software to detect copy number variation in whole-exome sequencing data. Curr. Protoc. Hum. Genet. 81, 7.23.1\u20137.23.21 (2014).24763994","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08516"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2221"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2011.457"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-014-0467-2"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2915"},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1741"},{"key":"e_1_3_2_43_2","first-page":"17.1","volume-title":"EMBnet Journal","author":"Martin M.","year":"2011","unstructured":"Martin M., Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet Journal 2011, 17.1 (2011)."},{"key":"e_1_3_2_44_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"e_1_3_2_45_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp120"},{"key":"e_1_3_2_46_2","unstructured":"R Development Core Team R: A Language and Environment for Statistical Computing (R Foundation for Statistical Computing Vienna 2005); www.r-project.org"},{"key":"e_1_3_2_47_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0258(19980430)17:8<873::AID-SIM779>3.0.CO;2-I"},{"key":"e_1_3_2_48_2","doi-asserted-by":"publisher","DOI":"10.1080\/01621459.1927.10502953"},{"key":"e_1_3_2_49_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_3_2_50_2","doi-asserted-by":"publisher","DOI":"10.18637\/jss.v028.i05"},{"key":"e_1_3_2_51_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-12-77"},{"key":"e_1_3_2_52_2","doi-asserted-by":"publisher","DOI":"10.15252\/embr.201439183"},{"key":"e_1_3_2_53_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp011"},{"key":"e_1_3_2_54_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.345"},{"key":"e_1_3_2_55_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.122614.111"},{"key":"e_1_3_2_56_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"e_1_3_2_57_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0162"}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.1261877","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T21:14:33Z","timestamp":1704921273000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.1261877"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,8]]},"references-count":56,"journal-issue":{"issue":"6235","published-print":{"date-parts":[[2015,5,8]]}},"alternative-id":["10.1126\/science.1261877"],"URL":"https:\/\/doi.org\/10.1126\/science.1261877","relation":{},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,8]]}}}