{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T17:19:30Z","timestamp":1778174370611,"version":"3.51.4"},"reference-count":42,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T00:00:00Z","timestamp":1583366400000},"content-version":"vor","delay-in-days":64,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Post-genome Multi-ministerial Project","award":["3000-3031-405:2017-NI72001-00"],"award-info":[{"award-number":["3000-3031-405:2017-NI72001-00"]}]},{"name":"Post-genome Multi-ministerial Project","award":["3000-3031-405:2017-NI72003-00"],"award-info":[{"award-number":["3000-3031-405:2017-NI72003-00"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Since 2012, the Center for Genome Science of the Korea National Institute of Health (KNIH) has been sequencing complete genomes of 1722 Korean individuals. As a result, more than 32 million variant sites have been identified, and a large proportion of the variant sites have been detected for the first time. In this article, we describe the Korean Reference Genome Database (KRGDB) and its genome browser. The current version of our database contains both single nucleotide and short insertion\/deletion variants. The DNA samples were obtained from four different origins and sequenced in different sequencing depths (10\u00d7 coverage of 63 individuals, 20\u00d7 coverage of 194 individuals, combined 10\u00d7 and 20\u00d7 coverage of 135 individuals, 30\u00d7 coverage of 230 individuals and 30\u00d7 coverage of 1100 individuals). The major features of the KRGDB are that it contains information on the Korean genomic variant frequency, frequency difference between the Korean and other populations and the variant functional annotation (such as regulatory elements in ENCODE regions and coding variant functions) of the variant sites. Additionally, we performed the genome-wide association study (GWAS) between Korean genome variant sites for the 30\u00d7230 individuals and three major common diseases (diabetes, hypertension and metabolic syndrome). The association results are displayed on our browser. The KRGDB uses the MySQL database and Apache-Tomcat web server adopted with Java Server Page (JSP) and is freely available at http:\/\/coda.nih.go.kr\/coda\/KRGDB\/index.jsp.<\/jats:p>\n               <jats:p>Availability: http:\/\/coda.nih.go.kr\/coda\/KRGDB\/index.jsp<\/jats:p>","DOI":"10.1093\/database\/baz146","type":"journal-article","created":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T12:12:10Z","timestamp":1580386330000},"source":"Crossref","is-referenced-by-count":46,"title":["KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing"],"prefix":"10.1093","volume":"2020","author":[{"given":"Kwang Su","family":"Jung","sequence":"first","affiliation":[{"name":"Division of Biomedical Informatics, Center for Genome Science, National Institute of Health, KCDC, Cheongju 28159, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung-Won","family":"Hong","sequence":"first","affiliation":[{"name":"Division of Biomedical Informatics, Center for Genome Science, National Institute of Health, KCDC, Cheongju 28159, Republic of Korea"},{"name":"Healthcare R&D Division, Theragen Etex Bio Institute Co. LTD., Suwon 16229, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Youn","family":"Jo","sequence":"first","affiliation":[{"name":"Division of Biomedical Informatics, Center for Genome Science, National Institute of Health, KCDC, Cheongju 28159, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jongpill","family":"Choi","sequence":"first","affiliation":[{"name":"Division of Biomedical Informatics, Center for Genome Science, National Institute of Health, KCDC, Cheongju 28159, Republic of Korea"},{"name":"Thermo Fisher Scientific Solutions, Seoul 06349, Republic of Korea and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyo-Jeong","family":"Ban","sequence":"first","affiliation":[{"name":"Division of Biomedical Informatics, Center for Genome Science, National Institute of Health, KCDC, Cheongju 28159, Republic of Korea"},{"name":"Future Medicine Division, Korea Institute of Oriental Medicine, Daejeon 34054, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seong Beom","family":"Cho","sequence":"first","affiliation":[{"name":"Division of Biomedical Informatics, Center for Genome Science, National Institute of Health, KCDC, Cheongju 28159, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myungguen","family":"Chung","sequence":"first","affiliation":[{"name":"Division of Biomedical Informatics, Center for Genome Science, National Institute of Health, KCDC, Cheongju 28159, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,3,4]]},"reference":[{"key":"2020042911360586500_ref1","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1038\/nbt1486","article-title":"Next-generation DNA sequencing","volume":"26","author":"Shendure","year":"2008","journal-title":"Nat. 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