Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
Understanding natural selection is crucial to unveiling evolution of modern humans. Here,
we report natural selection signatures in the Japanese population using 2234 high-depth
whole-genome sequence (WGS) data (25.9×). Using rare singletons, we identify signals of
very recent selection for the past 2000–3000 years in multiple loci (ADH cluster, MHC
region, BRAP-ALDH2, SERHL2). In large-scale genome-wide association study (GWAS)
dataset (n= 171,176), variants with selection signatures show enrichment in heterogeneity of …
we report natural selection signatures in the Japanese population using 2234 high-depth
whole-genome sequence (WGS) data (25.9×). Using rare singletons, we identify signals of
very recent selection for the past 2000–3000 years in multiple loci (ADH cluster, MHC
region, BRAP-ALDH2, SERHL2). In large-scale genome-wide association study (GWAS)
dataset (n= 171,176), variants with selection signatures show enrichment in heterogeneity of …
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