The South Asian Genome
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Author(s)
Type
Journal Article
Abstract
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.
Date Issued
2014-08-12
Date Acceptance
2014-06-21
Citation
PLOS One, 2014, 9 (8)
ISSN
1932-6203
Publisher
Public Library of Science
Journal / Book Title
PLOS One
Volume
9
Issue
8
Copyright Statement
© 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.
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Subjects
Science & Technology
Multidisciplinary Sciences
Science & Technology - Other Topics
CORONARY-HEART-DISEASE
WIDE ASSOCIATION
SUSCEPTIBILITY LOCI
INSULIN-RESISTANCE
SEQUENCING DATA
RISK-FACTORS
HYPERINSULINEMIA
ANNOTATION
ALBINISM
PROTEIN
Publication Status
Published
Article Number
ARTN e102645