
한국인 4,157명의 전체 유전체 서열과 107개의 표현형 데이터를 통합한 한국인 유전체-표현형 데이터베이스 구축


coremsg

We present 4,157 whole-genome sequences (Korea4K) coupled with 107 health check-up parameters as the largest whole genomic resource of Koreans. Korea4K provides 45,537,252 variants and encompasses most of the common and rare variants in Koreans. We identified 1,356 new geno-phenotype associations which were not found by the previous Korea1K dataset. Phenomics analyses revealed 24 genetic correlations, 1,131 pleiotropic variants, and 127 causal relationships from Mendelian randomization. Moreover, the Korea4K imputation reference panel showed a superior imputation performance to Korea1K. Collectively, Korea4K provides the most extensive genomic and phenomic data resources for discovering clinically relevant novel genome-phenome associations in Koreans.

### Competing Interest Statement

S.J., Y. J., H. R., Y.J.K., C.K, Yeonkyung K., Younghui K., Y. J. W., and B. C. K. are employees and Jong B. is the CEO of Clinomics Inc. The authors declare no other competing interests.

*   KGP
    :   Korean Genome Project
    SNV
    :   single nucleotide variant
    NGS
    :   Next-generation sequencing
    DNV
    :   double nucleotide variant
    TNV
    :   triple nucleotide variant
    AF
    :   allele frequency
    AC
    :   allele count
    PCA
    :   principal component analysis
    1KGP
    :   the 1000 genome project
    WGWAS
    :   Whole-genome-wide association study
    GC
    :   genetic correlation
    PC
    :   phenotypic correlation
    MR
    :   Mendelian randomization

Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups

한국인-4-157명의-전체-유전체-서열과-107개의-표현형-데이터-한국인-유전체-및-표현형-데이터베이스-구축


한국인 4,157명의 전체 유전체 서열과 107개의 표현형 데이터: 한국인 유전체 및 표현형 데이터베이스 구축
