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Korean Genome Project: 1094 Korean personal genomes with clinical information

2020; American Association for the Advancement of Science; Volume: 6; Issue: 22 Linguagem: Inglês

10.1126/sciadv.aaz7835

2375-2548

Sungwon Jeon, Youngjune Bhak, Yeonsong Choi, Yeonsu Jeon, Seunghoon Kim, Jaeyoung Jang, Jinho Jang, Asta Blažytė, Changjae Kim, Yeonkyung Kim, Jungae Shim, Nayeong Kim, Yeo Jin Kim, Seung Gu Park, Jungeun Kim, Yun Sung Cho, Yeshin Park, Hak‐Min Kim, Byoung-Chul Kim, Neung Hwa Park, Eun‐Seok Shin, Byung Chul Kim, Dan Bolser, Andrea Manica, Jeremy S. Edwards, George M. Church, Semin Lee, Jong Bhak,

Cancer Genomics and Diagnostics

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.