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PLoS One. 2014 Aug 12;9(8):e102645. doi: 10.1371/journal.pone.0102645. eCollection 2014.

The South Asian genome.

Author information

1
Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom; Imperial College Healthcare NHS Trust, London, United Kingdom; MRC-HPA Centre for Environment and Health, Imperial College London, Norfolk Place, London, United Kingdom; Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
2
Centre for Integrative Systems Biology and Bioinformatics, Imperial College London, London, United Kingdom.
3
Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom; Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
4
Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom; Computational Biology and Statistics, University of Cambridge, Cambridge, United Kingdom.
5
Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
6
Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom; NHLI, Imperial College London, Hammersmith Hospital, London, United Kingdom.
7
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
8
Institute of Clinical Sciences, Imperial College London, London, United Kingdom; Royal Brompton and Harefield Hospitals NHS Trust, London, United Kingdom.
9
MRC Clinical Sciences Centre, Imperial College London, London, United Kingdom.
10
Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
11
Imperial College Healthcare NHS Trust, London, United Kingdom.
12
Hero DMC Heart Institute, Dayanand Medical College and Hospital, Ludhiana, India.
13
BGI-Shenzhen, Shenzhen, China.
14
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Churchill Hospital, Oxford, United Kingdom; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, United Kingdom.
15
NHLI, Imperial College London, Hammersmith Hospital, London, United Kingdom.
16
Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom; Imperial College Healthcare NHS Trust, London, United Kingdom; MRC-HPA Centre for Environment and Health, Imperial College London, Norfolk Place, London, United Kingdom.
17
Imperial College Healthcare NHS Trust, London, United Kingdom; Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom; NHLI, Imperial College London, Hammersmith Hospital, London, United Kingdom.

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.

PMID:
25115870
PMCID:
PMC4130493
DOI:
10.1371/journal.pone.0102645
[Indexed for MEDLINE]
Free PMC Article

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