插补(统计学)
参考基因组
单倍型
基因组
生物
人口
全基因组测序
遗传学
全基因组关联研究
计算生物学
基因
计算机科学
单核苷酸多态性
基因型
医学
缺少数据
环境卫生
机器学习
作者
Peng Zhang,Huaxia Luo,Yanyan Li,You Wang,Jiajia Wang,Yu Zheng,Yiwei Niu,Yangguang Shi,Honghong Zhou,Tingrui Song,Quan Kang,Tao Xu,Shunmin He
出处
期刊:Cell Reports
[Elsevier]
日期:2021-11-01
卷期号:37 (7): 110017-110017
被引量:46
标识
DOI:10.1016/j.celrep.2021.110017
摘要
The lack of haplotype reference panels and whole-genome sequencing resources specific to the Chinese population has greatly hindered genetic studies in the world's largest population. Here, we present the NyuWa genome resource, based on deep (26.2×) sequencing of 2,999 Chinese individuals, and construct a NyuWa reference panel of 5,804 haplotypes and 19.3 million variants, which is a high-quality publicly available Chinese population-specific reference panel with thousands of samples. Compared with other panels, the NyuWa reference panel reduces the Han Chinese imputation error rate by a margin ranging from 30% to 51%. Population structure and imputation simulation tests support the applicability of one integrated reference panel for northern and southern Chinese. In addition, a total of 22,504 loss-of-function variants in coding and noncoding genes are identified, including 11,493 novel variants. These results highlight the value of the NyuWa genome resource in facilitating genetic research in Chinese and Asian populations.
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