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11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project

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 th...

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Detalles Bibliográficos
Autores principales: Cai, Na, Bigdeli, Tim B., Kretzschmar, Warren W., Li, Yihan, Liang, Jieqin, Hu, Jingchu, Peterson, Roseann E., Bacanu, Silviu, Webb, Bradley Todd, Riley, Brien, Li, Qibin, Marchini, Jonathan, Mott, Richard, Kendler, Kenneth S., Flint, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5308202/
https://www.ncbi.nlm.nih.gov/pubmed/28195579
http://dx.doi.org/10.1038/sdata.2017.11
Descripción
Sumario: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.