Nature. 2019 Dec;576(7785):106-111. doi: 10.1038/s41586-019-1793-z. Epub 2019 Dec 4.
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 world's 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.
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，导致世界上很大一部分人口的医学相关性降低。需要特定人群的参考基因组数据集以及在不同人群中进行全基因组关联研究来解决这个问题。在这里，我们描述了 GenomeAsia 100K 项目的试点阶段。这包括来自亚洲 64 个国家和 219 个人群的 1,739 个人的全基因组测序参考数据集。我们对遗传变异、群体结构、疾病关联和起源效应进行编目。我们还探索了在基因分型中使用该数据集，以促进亚洲乃至全球各地人群的遗传研究。
