KRGDB

KRGDB provides a catalog of genomic variants from whole-genome sequencing of 1,722 Korean individuals to report single nucleotide variants (SNVs) and short insertion/deletion variants, population-specific allele frequencies, functional annotations including ENCODE regulatory elements, and GWAS results for diabetes, hypertension, and metabolic syndrome.

Key Features:

• Variant catalog size: Over 32 million variant sites identified across 1,722 Korean individuals.
• Variant types and sequencing coverage: Includes SNVs and short insertion/deletion variants (indels) derived from whole-genome sequencing with sample-specific coverage: 63 individuals at 10×, 194 at 20×, 135 with combined 10× and 20× coverage, 230 at 30×, and 1,100 at 30×.
• Population-specific frequencies: Allele frequency data specific to the Korean population with comparative frequency information versus other global populations.
• Functional annotation: Variant annotations include regulatory elements from ENCODE regions and coding variant functional consequences.
• GWAS results: Genome-wide association study results from 230 individuals with 30× coverage focusing on diabetes, hypertension, and metabolic syndrome.

Scientific Applications:

• Population genetics: Assess allele frequencies and population-specific variants within the Korean population.
• Disease association studies: Investigate genetic associations with diabetes, hypertension, and metabolic syndrome using integrated GWAS results.
• Functional genomics: Interpret coding and regulatory impacts of variants using ENCODE-based annotations.
• Clinical and translational research: Support personalized medicine and genetic epidemiology investigations in Korean cohorts.

Methodology:

Whole-genome sequencing of 1,722 individuals followed by variant identification and annotation with ENCODE regulatory regions and coding-function assessment, with GWAS analyses performed on 230 individuals at 30× coverage.