Explorer The South Asian Genome

The genetic sequence variation of people from the Indian subcontinent who comprise one-quarter of the world’s population, is not well described. We carried out whole genome sequencing of 168 South Asians, along with whole-exome sequencing of 147 South Asians to provide deeper characterisation of coding regions. We identify 12,962,155 autosomal sequence variants, including 2,946,861 new SNPs and 312,738 novel indels. This catalogue of SNPs and indels amongst South Asians provides the first comprehensive map of genetic variation in this major human population, and reveals evidence for selective pressures on genes involved in skin biology, metabolism, infection and immunity. Our results will accelerate the search for the genetic variants underlying susceptibility to disorders such as type-2 diabetes and cardiovascular disease which are highly prevalent amongst South Asians. Citation: Chambers JC, Abbott J, Zhang W, Turro E, Scott WR, et al. (2014) The South Asian Genome. PLoS ONE 9(8): e102645. doi:10.1371/journal.pone.0102645 Editor: Degui Zhi, University of Alabama at Birmingham, United States of America Received October 9, 2013; Accepted June 21, 2014; Published August 12, 2014 Copyright: 2014 Chambers et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: Whole genome sequencing to discover genetic variants underlying type-2 diabetes, coronary heart disease and related phenotypes amongst Indian Asians. Imperial College Healthcare NHS Trust cBRC 2011-13 (JS Kooner [PI], JC Chambers). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Competing Interests: The authors have declared that no competing interests exist. * Email: john.chambers@ic.ac.uk (JCC); p.elliott@imperial.ac.uk (PE); j.kooner@imperial.ac.uk (JK) . These authors contributed equally to this work.

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