The GenomeAsia 100K Project enables genetic discoveries across Asia
The GenomeAsia 100K Project enables genetic discoveries across Asia
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DOI：
10.1038/s41586-019-1793-z
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发表时间：
2019-12-05
期刊：
影响因子：
64.8
通讯作者：
Peterson, Andrew S.
中科院分区：
文献类型：
--
作者：
Wall, Jeffrey D.;Stawiski, Eric W.;Peterson, Andrew S.
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，并导致世界上很大一部分人口的医学相关性降低。为了解决这个问题，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。在这里，我们描述的基因组亚洲100 K项目的试点阶段。这包括来自亚洲219个人口群体和64个国家的1，739名个体的全基因组测序参考数据集。我们对遗传变异、种群结构、疾病关联和创始人效应进行了分类。我们还探索了在插补中使用该数据集，以促进亚洲和世界各地人群的遗传研究。
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.