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

  • Na Cai
  • , Tim B. Bigdeli
  • , Warren W. Kretzschmar
  • , Yihan Li
  • , Jieqin Liang
  • , Jingchu Hu
  • , Roseann E. Peterson
  • , Silviu Bacanu
  • , Bradley Todd Webb
  • , Brien Riley
  • , Qibin Li
  • , Jonathan Marchini
  • , Richard Mott
  • , Kenneth S. Kendler
  • , Jonathan Flint
  • University of Oxford
  • Wellcome Trust Sanger Institute
  • European Molecular Biology Laboratory
  • BGI-Shenzhen
  • Virginia Commonwealth University
  • University College London
  • University of California at Los Angeles

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

Abstract

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.

Original languageEnglish
Article number170011
JournalScientific Data
Volume4
DOIs
StatePublished - Feb 14 2017

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