TY - JOUR AU - Pan, Ziqing AU - Xu, Shuhua PY - 2020 DA - 2020/12/08 TI - Population genomics of East Asian ethnic groups JO - Hereditas SP - 49 VL - 157 IS - 1 AB - 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. SN - 1601-5223 UR - https://doi.org/10.1186/s41065-020-00162-w DO - 10.1186/s41065-020-00162-w ID - Pan2020 ER -