{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T21:40:38Z","timestamp":1791582038751,"version":"4.3.4"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"15","license":[{"start":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T00:00:00Z","timestamp":1490572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","award":["ERCCoG648670"],"award-info":[{"award-number":["ERCCoG648670"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Whole exome sequencing (WES) is widely utilized both in translational cancer genomics studies and in the setting of precision medicine. Stratification of individual\u2019s ethnicity is fundamental for the correct interpretation of personal genomic variation impact. We implemented EthSEQ to provide reliable and rapid ethnicity annotation from whole exome sequencing individual\u2019s data, validated it on 1000 Genome Project and TCGA data (2700 samples) demonstrating high precision, and finally assessed computational performances compared to other tools. EthSEQ can be integrated into any WES based processing pipeline and exploits multi-core capabilities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and Implementation<\/jats:title>\n                    <jats:p>R package available at github.com\/aromanel\/EthSEQ and CRAN repository.<\/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\/btx165","type":"journal-article","created":{"date-parts":[[2017,3,25]],"date-time":"2017-03-25T01:42:33Z","timestamp":1490406153000},"page":"2402-2404","source":"Crossref","is-referenced-by-count":50,"title":["EthSEQ: ethnicity annotation from whole exome sequencing data"],"prefix":"10.1093","volume":"33","author":[{"given":"Alessandro","family":"Romanel","sequence":"first","affiliation":[{"name":"CIBIO, University of Trento, Trento, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Caryl and Israel Englander Institute for Precision Medicine, New York Presbyterian Hospital-Weill Cornell Medicine, New York, NY, USA"},{"name":"Genomics Core Facility, Weill Cornell Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Elemento","sequence":"additional","affiliation":[{"name":"Caryl and Israel Englander Institute for Precision Medicine, New York Presbyterian Hospital-Weill Cornell Medicine, New York, NY, USA"},{"name":"Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Demichelis","sequence":"additional","affiliation":[{"name":"CIBIO, University of Trento, Trento, Italy"},{"name":"Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,3,27]]},"reference":[{"key":"2023063012505779400_btx165-B1","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1001\/jamaoncol.2015.1313","article-title":"Whole-exome sequencing of metastatic cancer and biomarkers of treatment response","volume":"1","author":"Beltran","year":"2015","journal-title":"JAMA Oncol"},{"key":"2023063012505779400_btx165-B2","doi-asserted-by":"crossref","first-page":"4835","DOI":"10.1038\/ncomms5835","article-title":"Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins","volume":"5","author":"Carmi","year":"2014","journal-title":"Nat. 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