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Korean Genome Project: 1094 Korean personal genomes with clinical information.

Science advances - 1 May 2020

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

Abstract excerpt

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...

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PMID: 32766443
DOI: 10.1126/sciadv.aaz7835
PMCID: PMC7385432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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