2020/12/01 by Ziqing Pan, Shuhua Xu · 1 citation
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic diversity and population structure #Genetic Associations and Epidemiology #Biology #Evolutionary biology #East Asia #Genetic diversity #Genotyping #Mitochondrial DNA #Population genetics #Population #Indigenous #Population genomics #Genetics #Genome #Genomics #Ethnic group #Gene #Genotype #China #Geography #Demography #Ecology #Anthropology
paper · pdf · doi:10.1186/s41065-020-00162-w
openalex publication_date 2020/12/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/02
East Asia constitutes one-fifth of the global population and exhibits substantial genetic diversity. However, genetic investigations on populations in this region have been largely under-represented compared with European populations. Nonetheless, the last decade has seen considerable efforts and progress in genome-wide genotyping and whole-genome sequencing of the East-Asian ethnic groups. Here, we review the recent studies in terms of ancestral origin, population relationship, genetic differentiation, and admixture of major East- Asian groups, such as the Chinese, Korean, and Japanese populations. We mainly focus on insights from the whole-genome sequence data and also include the recent progress based on mitochondrial DNA (mtDNA) and Y chromosome data. We further discuss the evolutionary forces driving genetic diversity in East-Asian populations, and provide our perspectives for future directions on population genetics studies, particularly on underrepresented indigenous groups in East Asia.