GenomeAsia 100K项目计划测序并分析10万例亚洲个体的基因组。相关论文2019年12月4日发表在《自然》上。

研究联合体报告了该项目试验阶段的数据：包括来自亚洲64个国家或地区的219个种群的1,739名个体的全基因组测序参考数据集。研究人员利用该数据划分遗传变异、种群结构和疾病关联。他们还探索了该数据集在推算中的用途，以促进亚洲乃至全球人群的遗传研究。

研究人员表示，迄今为止，非欧洲人在人类遗传研究中的代表性不足，限制了基因组数据集中个体的多样性，并导致世界上大部分人口的医学相关性降低。解决此问题需要特定人群的参考基因组数据集以及不同人群的全基因组关联研究。

附：英文原文

Title: The GenomeAsia 100K Project enables genetic discoveries across Asia

Author: GenomeAsiaK

Issue&Volume: 2019-12-04

Abstract: The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the worlds population. Population-specific reference genome datasets as well as genome-wide association studies in diverse populations are needed to address this issue. Here we describe the pilot phase of the GenomeAsia 100K Project. This includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia. We catalogue genetic variation, population structure, disease associations and founder effects. We also explore the use of this dataset in imputation, to facilitate genetic studies in populations across Asia and worldwide. Using whole-genome sequencing data from 1,739 individuals, the GenomeAsia 100K Project catalogues genetic variation, population structure and disease associations to facilitate genetic studies in Asian populations and increase representation in genetics studies worldwide.

DOI: 10.1038/s41586-019-1793-z

Source: https://www.nature.com/articles/s41586-019-1793-z