11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project.
11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project.
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DOI：
10.1038/sdata.2017.11
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发表时间：
2017-02-14
期刊：
影响因子：
9.8
通讯作者：
Flint J
中科院分区：
文献类型：
--
作者：
Cai N;Bigdeli TB;Kretzschmar WW;Li Y;Liang J;Hu J;Peterson RE;Bacanu S;Webb BT;Riley B;Li Q;Marchini J;Mott R;Kendler KS;Flint J
中国、牛津和弗吉尼亚联邦大学遗传流行病学实验研究（CONVERGE）项目对11670名汉族女性进行了低覆盖率（1.7X）测序，提供了世界上第一个具有代表性的大规模全基因组测序资源。样本来自全国23个省份的58家医院。我们能够从核基因组中调用2200万个高质量的单核苷酸多态性（SNP），这是迄今为止东亚人群中最大的SNP调用集。我们使用这些变体在所有样本中进行基因型的推测，这使我们能够对MDD进行成功的全基因组关联研究（GWAS）。将这些数据与其他人群的数据相结合，可以扩展到汉人遗传祖先和进化遗传学的研究中。分子表型，如拷贝数变异和结构变异，可以以类似的方式检测、量化和分析。
The China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) project on Major Depressive Disorder (MDD) sequenced 11,670 female Han Chinese at low-coverage (1.7X), providing the first large-scale whole genome sequencing resource representative of the largest ethnic group in the world. Samples are collected from 58 hospitals from 23 provinces around China. We are able to call 22 million high quality single nucleotide polymorphisms (SNP) from the nuclear genome, representing the largest SNP call set from an East Asian population to date. We use these variants for imputation of genotypes across all samples, and this has allowed us to perform a successful genome wide association study (GWAS) on MDD. The utility of these data can be extended to studies of genetic ancestry in the Han Chinese and evolutionary genetics when integrated with data from other populations. Molecular phenotypes, such as copy number variations and structural variations can be detected, quantified and analysed in similar ways.