Korean Genome Project: 1094 Korean personal genomes with clinical information
Open Access
- 29 May 2020
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science Advances
- Vol. 6 (22), eaaz7835
- https://doi.org/10.1126/sciadv.aaz7835
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.Keywords
Funding Information
- Ulsan National Institute of Science of Technology (1.190007.01)
- Ulsan National Institute of Science of Technology (1.190033.01)
- Ulsan National Institute of Science of Technology (2.180016.01)
- Clinomics, Inc (Internal funding)
- Clinomics, Inc (Internal funding)
- Clinomics, Inc (Internal funding)
- Clinomics Inc. (Internal funding)
- Clinomics, Inc (Internal funding)
- Clinomics, Inc (Internal funding)
- Clinomics, Inc (Internal funding)
- National Center for Standard Reference Data (20003641)
- Clinomics Inc. (Internal funding)
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