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Korean Genome Project: 1094 Korean personal genomes with clinical information
We present the initial phase of the Korean Genome Project (Korea1K), including 1094 whole genomes (sequenced at an average depth of 31×), along with data of 79 quantitative clinical traits. We identified 39 million single-nucleotide variants and indels of which half were singleton or doubleton and d...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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American Association for the Advancement of Science
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385432/ https://www.ncbi.nlm.nih.gov/pubmed/32766443 http://dx.doi.org/10.1126/sciadv.aaz7835 |
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author | Jeon, Sungwon Bhak, Youngjune Choi, Yeonsong Jeon, Yeonsu Kim, Seunghoon Jang, Jaeyoung Jang, Jinho Blazyte, Asta Kim, Changjae Kim, Yeonkyung Shim, Jungae Kim, Nayeong Kim, Yeo Jin Park, Seung Gu Kim, Jungeun Cho, Yun Sung Park, Yeshin Kim, Hak-Min Kim, Byoung-Chul Park, Neung-Hwa Shin, Eun-Seok Kim, Byung Chul Bolser, Dan Manica, Andrea Edwards, Jeremy S. Church, George Lee, Semin Bhak, Jong |
author_facet | Jeon, Sungwon Bhak, Youngjune Choi, Yeonsong Jeon, Yeonsu Kim, Seunghoon Jang, Jaeyoung Jang, Jinho Blazyte, Asta Kim, Changjae Kim, Yeonkyung Shim, Jungae Kim, Nayeong Kim, Yeo Jin Park, Seung Gu Kim, Jungeun Cho, Yun Sung Park, Yeshin Kim, Hak-Min Kim, Byoung-Chul Park, Neung-Hwa Shin, Eun-Seok Kim, Byung Chul Bolser, Dan Manica, Andrea Edwards, Jeremy S. Church, George Lee, Semin Bhak, Jong |
author_sort | Jeon, Sungwon |
collection | PubMed |
description | We present the initial phase of the Korean Genome Project (Korea1K), including 1094 whole genomes (sequenced at an average depth of 31×), along with data of 79 quantitative clinical traits. We identified 39 million single-nucleotide variants and indels of which half were singleton or doubleton and detected Korean-specific patterns based on several types of genomic variations. A genome-wide association study illustrated the power of whole-genome sequences for analyzing clinical traits, identifying nine more significant candidate alleles than previously reported from the same linkage disequilibrium blocks. Also, Korea1K, as a reference, showed better imputation accuracy for Koreans than the 1KGP panel. As proof of utility, germline variants in cancer samples could be filtered out more effectively when the Korea1K variome was used as a panel of normals compared to non-Korean variome sets. Overall, this study shows that Korea1K can be a useful genotypic and phenotypic resource for clinical and ethnogenetic studies. |
format | Online Article Text |
id | pubmed-7385432 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | American Association for the Advancement of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-73854322020-08-05 Korean Genome Project: 1094 Korean personal genomes with clinical information Jeon, Sungwon Bhak, Youngjune Choi, Yeonsong Jeon, Yeonsu Kim, Seunghoon Jang, Jaeyoung Jang, Jinho Blazyte, Asta Kim, Changjae Kim, Yeonkyung Shim, Jungae Kim, Nayeong Kim, Yeo Jin Park, Seung Gu Kim, Jungeun Cho, Yun Sung Park, Yeshin Kim, Hak-Min Kim, Byoung-Chul Park, Neung-Hwa Shin, Eun-Seok Kim, Byung Chul Bolser, Dan Manica, Andrea Edwards, Jeremy S. Church, George Lee, Semin Bhak, Jong Sci Adv Research Articles We present the initial phase of the Korean Genome Project (Korea1K), including 1094 whole genomes (sequenced at an average depth of 31×), along with data of 79 quantitative clinical traits. We identified 39 million single-nucleotide variants and indels of which half were singleton or doubleton and detected Korean-specific patterns based on several types of genomic variations. A genome-wide association study illustrated the power of whole-genome sequences for analyzing clinical traits, identifying nine more significant candidate alleles than previously reported from the same linkage disequilibrium blocks. Also, Korea1K, as a reference, showed better imputation accuracy for Koreans than the 1KGP panel. As proof of utility, germline variants in cancer samples could be filtered out more effectively when the Korea1K variome was used as a panel of normals compared to non-Korean variome sets. Overall, this study shows that Korea1K can be a useful genotypic and phenotypic resource for clinical and ethnogenetic studies. American Association for the Advancement of Science 2020-05-27 /pmc/articles/PMC7385432/ /pubmed/32766443 http://dx.doi.org/10.1126/sciadv.aaz7835 Text en Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC). http://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial license (http://creativecommons.org/licenses/by-nc/4.0/) , which permits use, distribution, and reproduction in any medium, so long as the resultant use is not for commercial advantage and provided the original work is properly cited. |
spellingShingle | Research Articles Jeon, Sungwon Bhak, Youngjune Choi, Yeonsong Jeon, Yeonsu Kim, Seunghoon Jang, Jaeyoung Jang, Jinho Blazyte, Asta Kim, Changjae Kim, Yeonkyung Shim, Jungae Kim, Nayeong Kim, Yeo Jin Park, Seung Gu Kim, Jungeun Cho, Yun Sung Park, Yeshin Kim, Hak-Min Kim, Byoung-Chul Park, Neung-Hwa Shin, Eun-Seok Kim, Byung Chul Bolser, Dan Manica, Andrea Edwards, Jeremy S. Church, George Lee, Semin Bhak, Jong Korean Genome Project: 1094 Korean personal genomes with clinical information |
title | Korean Genome Project: 1094 Korean personal genomes with clinical information |
title_full | Korean Genome Project: 1094 Korean personal genomes with clinical information |
title_fullStr | Korean Genome Project: 1094 Korean personal genomes with clinical information |
title_full_unstemmed | Korean Genome Project: 1094 Korean personal genomes with clinical information |
title_short | Korean Genome Project: 1094 Korean personal genomes with clinical information |
title_sort | korean genome project: 1094 korean personal genomes with clinical information |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385432/ https://www.ncbi.nlm.nih.gov/pubmed/32766443 http://dx.doi.org/10.1126/sciadv.aaz7835 |
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