Title |
The South Asian Genome
|
---|---|
Published in |
PLOS ONE, August 2014
|
DOI | 10.1371/journal.pone.0102645 |
Pubmed ID | |
Authors |
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 Oozageer, Ishminder 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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 6 | 23% |
United States | 6 | 23% |
New Zealand | 1 | 4% |
Australia | 1 | 4% |
India | 1 | 4% |
Netherlands | 1 | 4% |
China | 1 | 4% |
Denmark | 1 | 4% |
Unknown | 8 | 31% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 18 | 69% |
Scientists | 6 | 23% |
Science communicators (journalists, bloggers, editors) | 1 | 4% |
Practitioners (doctors, other healthcare professionals) | 1 | 4% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | <1% |
Netherlands | 1 | <1% |
Italy | 1 | <1% |
South Africa | 1 | <1% |
Sri Lanka | 1 | <1% |
Spain | 1 | <1% |
United States | 1 | <1% |
Unknown | 103 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 25 | 23% |
Researcher | 24 | 22% |
Student > Bachelor | 9 | 8% |
Student > Master | 7 | 6% |
Other | 6 | 5% |
Other | 22 | 20% |
Unknown | 17 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 37 | 34% |
Biochemistry, Genetics and Molecular Biology | 21 | 19% |
Medicine and Dentistry | 20 | 18% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
Social Sciences | 2 | 2% |
Other | 8 | 7% |
Unknown | 20 | 18% |