A5034007007- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
Ulsan National Institute of Science and Technology
2022-2024
Abstract Background Phenome-wide association studies (PheWASs) have been conducted on Asian populations, including Koreans, but many were based chip or exome genotyping data. Such limitations regarding whole genome–wide analysis, making it crucial to genome-to-phenome information with the largest possible genome and matched phenome data conduct further population-genome develop health care services population genomics. Results Here, we present 4,157 sequences (Korea4K) coupled 107 check-up...
Abstract 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 common rare in identified 1,356 new geno-phenotype associations which were not found by previous Korea1K dataset. Phenomics analyses revealed 24 genetic correlations, 1,131 pleiotropic variants, 127 causal relationships from Mendelian randomization. Moreover, imputation reference...