한빛사 논문
Sungwon Jeon1,2,*, Youngjune Bhak1,2,3,*, Yeonsong Choi1,2,*, Yeonsu Jeon1,2, Seunghoon Kim1,2, Jaeyoung Jang1, Jinho Jang1,2, Asta Blazyte1, Changjae Kim1,3, Yeonkyung Kim1, Jungae Shim1, Nayeong Kim1, Yeo Jin Kim1, Seung Gu Park1, Jungeun Kim4, Yun Sung Cho3, Yeshin Park3, Hak-Min Kim1,2,3, Byoung-Chul Kim3, Neung-Hwa Park5,6, Eun-Seok Shin7, Byung Chul Kim3, Dan Bolser3, Andrea Manica8, Jeremy S. Edwards9, George Church10,†, Semin Lee1,2,† and Jong Bhak1,2,3,4,†
1Korean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.
2Department of Biomedical Engineering, School of Life Sciences, UNIST, Ulsan 44919, Republic of Korea.
3Clinomics Inc., Ulsan 44919, Republic of Korea.
4Personal Genomics Institute (PGI), Genome Research Foundation (GRF), Osong 28160, Republic of Korea.
5Department of Internal Medicine, University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan 44033, Republic of Korea.
6Biomedical Research Center, University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan 44033, Republic of Korea.
7Division of Cardiology, Department of Internal Medicine, Ulsan Medical Center, Ulsan 44686, Republic of Korea.
8Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK.
9Department of Chemistry and Chemical Biology, University of New Mexico and University of New Mexico Comprehensive Cancer Center, Albuquerque, NM 87106, USA.
10Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
†Corresponding author.
* These authors contributed equally to this work.
Abstract
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.
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TOP52020년 후보
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