The South Asian genome

John C. Chambers, James Abbott, Weihua Zhang, Ernest Turro, William R. Scott, Sian Tsung Tan, Uzma Afzal, Saima Afaq, Marie Loh, Benjamin Lehne, Paul O'Reilly, Kyle J. Gaulton, Richard D. Pearson, Xinzhong Li, Anita Lavery, Jana Vandrovcova, Mark N. Wass, Kathryn Miller, Joban Sehmi, Laticia OozageerIshminder K. Kooner, Abtehale Al-Hussaini, Rebecca Mills, Jagvir Grewal, Vasileios Panoulas, Alexandra M. Lewin, Korrinne Northwood, Gurpreet S. Wander, Frank Geoghegan, Yingrui Li, Jun Wang, Timothy J. Aitman, Mark I. McCarthy, James Scott, Sarah Butcher, Paul Elliott, Jaspal S. Kooner

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


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.

Original languageEnglish
Article numbere102645
JournalPLoS ONE
Issue number8
Publication statusPublished - 12 Aug 2014
Externally publishedYes

ASJC Scopus subject areas

  • General


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