KOVA

KOVA aggregates 1,896 whole-genome and 3,409 whole-exome sequences from healthy Korean individuals to catalog population-specific genetic variation and selection signals for East Asian population genetics and disease research.

Key Features:

• Cohort composition: Contains 1,896 whole-genome sequences and 3,409 whole-exome sequences from healthy Korean individuals (5,305 total samples).
• Database scale: Represents the largest genome dataset for the ethnic Korean population, surpassing previous datasets such as gnomAD in sample representation.
• Variant spectrum: Catalogs known variants and novel information on Korean-specific runs of homozygosity, positively selected intervals, and structural variants.
• Selection loci identification: Reports loci with strong selection signals in Koreans, including ADH1A/1B and UHRF1BP1, relative to other East Asian groups.
• Evolutionary analyses: Includes analyses of allele ages and correlations between variant functionality and evolutionary history.

Scientific Applications:

• Population genetics: Enables comparative genomic analyses within East Asian populations and characterization of population-specific allele frequencies and selection patterns.
• Disease genetics and functional variant discovery: Supports discovery and interpretation of novel functional genetic variants that are unique to or prevalent in Korean/East Asian populations.
• Evolutionary inference: Facilitates study of allele age, selection dynamics, and the evolutionary history of variants.
• Translational research: Informs population-specific health implications and the development of targeted medical investigations and interventions.

Methodology:

Collection and sequencing of whole-genome and whole-exome data from healthy Korean individuals and compilation of genetic features into the KOVA database, with integration for downstream bioinformatics analyses.