{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T22:05:05Z","timestamp":1782252305122,"version":"3.54.5"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"17","license":[{"start":{"date-parts":[[2016,11,10]],"date-time":"2016-11-10T00:00:00Z","timestamp":1478736000000},"content-version":"vor","delay-in-days":73,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007431","name":"NRF","doi-asserted-by":"publisher","award":["2012R1A3A2026438"],"award-info":[{"award-number":["2012R1A3A2026438"]}],"id":[{"id":"10.13039\/100007431","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007431","name":"NRF","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007431","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"publisher","award":["2014-NI73001-00"],"award-info":[{"award-number":["2014-NI73001-00"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"NIDDK","doi-asserted-by":"publisher","award":["U01\u2019s DK085501"],"award-info":[{"award-number":["U01\u2019s DK085501"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"NIDDK","doi-asserted-by":"publisher","award":["DK085524"],"award-info":[{"award-number":["DK085524"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"NIDDK","doi-asserted-by":"publisher","award":["DK085526"],"award-info":[{"award-number":["DK085526"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"NIDDK","doi-asserted-by":"publisher","award":["DK085545"],"award-info":[{"award-number":["DK085545"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"NIDDK","doi-asserted-by":"publisher","award":["DK085584"],"award-info":[{"award-number":["DK085584"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Motivation<\/jats:title>\n                  <jats:p>Recently, many methods have been developed for conducting rare-variant association studies for sequencing data. These methods have primarily been based on gene-level associations but have not been proven to be as effective as expected. Gene-set-level tests have shown great advantages over gene-level tests in terms of power and robustness, because complex diseases are often caused by multiple genes that comprise of biological gene sets.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Here, we propose several novel gene-set tests that employ rapid and efficient dimensionality reduction. The performance of these tests was investigated using extensive simulations and application to 1058 whole-exome sequences from a Korean population. We identified some known pathways and novel pathways whose rare or common variants are associated with elevated liver enzymes and replicated the results in an independent cohort.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and Implementation<\/jats:title>\n                  <jats:p>Source R code for our algorithm is freely available at http:\/\/statgen.snu.ac.kr\/software\/QTest.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Contact<\/jats:title>\n                  <jats:p>tspark@stats.snu.ac.kr<\/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\/btw429","type":"journal-article","created":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T07:53:39Z","timestamp":1472716419000},"page":"i611-i619","source":"Crossref","is-referenced-by-count":9,"title":["Gene-set association tests for next-generation sequencing data"],"prefix":"10.1093","volume":"32","author":[{"given":"Jaehoon","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Statistics, Seoul National University, Seoul 151-742, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Structural and Functional Genomics, Korean National Institute of Health, Osong, Chungchungbuk-Do 363-951, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juyoung","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Structural and Functional Genomics, Korean National Institute of Health, Osong, Chungchungbuk-Do 363-951, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"T2D-Genes Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bong-Jo","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Structural and Functional Genomics, Korean National Institute of Health, Osong, Chungchungbuk-Do 363-951, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seungyeoun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Mathematics and Statistics, Sejong University, Seoul 143-747, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taesung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Statistics, Seoul National University, Seoul 151-742, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,8,29]]},"reference":[{"key":"2023020113273586300_btw429-B1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. 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