Korean Genome Project: 1094 Korean personal genomes with clinical information

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.

Welfare Genome Project: A Participatory Korean Personal Genome Project With Free Health Check-Up and Genetic Report Followed by Counseling

“…The samples banked to the Biobank of Ulsan University Hospital already proved to be a valuable resource to the scientific community, as they have been used in Korea1K, the biggest South Korean population genome project. Jeon et al (2020) sequenced the whole genome of 696 out of 1,000 samples banked by WGP and used the 79 quantitative clinical traits to investigate genome-wide associations between the variants and the clinical information. Another application demonstrated by the study was the development of a Korean panel of normals for cancer genomics researches, which is an invaluable resource when a matched healthy control from the same individual is not available (e.g., leukemia).…”

“…In addition to disease-related large-scale genome projects, population structure studies have also been initiated as a popular tool to understand the history of human migration and gene flow. Many projects have emerged worldwide for this purpose, acquiring their samples through general population recruitment ( Gudbjartsson et al, 2015 ; Leitsalu et al, 2015 ; Nagasaki et al, 2015 ; Ameur et al, 2017 ; Jeon et al, 2020 ; Supplementary Table 1 ). The practical goal and outcome of such non-disease genome projects are to collect and bank as much genomic data as possible for subsequent uses, such as the study of fine stratification of populations.…”

Genomic analyses of 10,376 individuals provides comprehensive map of genetic variations, structure and reference haplotypes for Chinese population

“…Recently, some studies have sequenced and analyzed the Asian populations including Japanese 9 and Korean 10 . The Singapore SG10K pilot project reported 4,810 whole-genome sequenced samples, including 903 Malays, 1,127 Indians and 2,780 Chinese 11 , and the pilot study of the GenomeAsia 100K…”

A Distributed Whole Genome Sequencing Benchmark Study

“…The global sequencing market is valued at approximately $10 billion 1 . To date, more than 500,000 human genomes have been sequenced 2 and deposited in public databases as part of previous large-scale genome projects (Auton et al, 2015;Turro et al, 2020), personal genome projects (Beck et al, 2018;Reuter et al, 2018;Jeon et al, 2020) or sizeable aggregation projects across larger populations (Karczewski et al, 2019). The genomes of another two million individuals are expected to be sequenced under current projects 3,4 .…”