WBBC

WBBC provides a population-scale genomic resource for the Chinese population by aggregating whole-genome sequencing and high-density genotyping to characterize genetic variation, population structure, selection signatures, and allele-age dynamics.

Key Features:

• Sample composition: Whole-genome sequencing data from 4,535 individuals and high-density genotyping data from 5,841 additional participants.
• Variant catalog: Identification of approximately 81.5 million single nucleotide polymorphisms (SNPs) and insertions/deletions (INDELs), with 38.5% absent from dbSNP Build 151.
• Population-specific reference panel: A Chinese-specific reference panel that improves genotype imputation accuracy, particularly for low-frequency and rare variants.
• Selection scans: Detection of selection signatures in genes including SNX29, DNAH1, and WDR1.
• Allele-age and evolutionary analysis: Inference of evolutionary history for ADH1A and ADH1B, with derived alleles estimated to have emerged ~7,000 years ago and increased in frequency ~4,000 years ago in East Asia.
• Population structure delineation: Genetic evidence supporting geographic boundaries such as the Qinling-Huaihe Line and Nanling Mountains and showing greater homogeneity in North Han compared to South Han.

Scientific Applications:

• Population genetics: Characterize genetic diversity, substructure, and regional differentiation within Chinese populations.
• Variant discovery and imputation: Improve discovery and imputation of low-frequency and rare variants for association and genetic epidemiology studies using a population-specific reference panel.
• Natural selection studies: Identify and interpret selection signatures in genes such as SNX29, DNAH1, and WDR1.
• Evolutionary and anthropological inference: Reconstruct allele-age dynamics and historical changes in allele frequency for genes involved in traits such as alcohol metabolism (ADH1A, ADH1B).

Methodology:

Whole-genome sequencing and high-density genotyping followed by identification of SNPs and INDELs, construction of a population-specific reference panel, genotype imputation, selection scans, and allele-age estimation.