title: The South Asian genome.
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.
authors.affiliation: 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.
authors.forename: John C
authors.initials: JC
authors.lastname: Chambers
authors.affiliation: Centre for Integrative Systems Biology and Bioinformatics, Imperial College London, London, United Kingdom.
authors.forename: James
authors.initials: J
authors.lastname: Abbott
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom; Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
authors.forename: Weihua
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom; Computational Biology and Statistics, University of Cambridge, Cambridge, United Kingdom.
authors.forename: Ernest
authors.initials: E
authors.lastname: Turro
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: William R
authors.initials: WR
authors.lastname: Scott
authors.affiliation: Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom; NHLI, Imperial College London, Hammersmith Hospital, London, United Kingdom.
authors.forename: Sian-Tsung
authors.initials: ST
authors.lastname: Tan
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: Uzma
authors.initials: U
authors.lastname: Afzal
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: Saima
authors.initials: S
authors.lastname: Afaq
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: Marie
authors.initials: M
authors.lastname: Loh
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Lehne
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: Paul
authors.initials: P
authors.lastname: O'Reilly
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
authors.forename: Kyle J
authors.initials: KJ
authors.lastname: Gaulton
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
authors.forename: Richard D
authors.initials: RD
authors.lastname: Pearson
authors.affiliation: Institute of Clinical Sciences, Imperial College London, London, United Kingdom; Royal Brompton and Harefield Hospitals NHS Trust, London, United Kingdom.
authors.forename: Xinzhong
authors.initials: X
authors.lastname: Li
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: Anita
authors.initials: A
authors.lastname: Lavery
authors.affiliation: MRC Clinical Sciences Centre, Imperial College London, London, United Kingdom.
authors.forename: Jana
authors.initials: J
authors.lastname: Vandrovcova
authors.affiliation: Centre for Integrative Systems Biology and Bioinformatics, Imperial College London, London, United Kingdom.
authors.forename: Mark N
authors.initials: MN
authors.lastname: Wass
authors.affiliation: Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Miller
authors.affiliation: Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom; NHLI, Imperial College London, Hammersmith Hospital, London, United Kingdom.
authors.forename: Joban
authors.initials: J
authors.lastname: Sehmi
authors.affiliation: Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
authors.forename: Laticia
authors.initials: L
authors.lastname: Oozageer
authors.affiliation: Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
authors.forename: Ishminder K
authors.initials: IK
authors.lastname: Kooner
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: Abtehale
authors.initials: A
authors.lastname: Al-Hussaini
authors.affiliation: Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Mills
authors.affiliation: Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
authors.forename: Jagvir
authors.initials: J
authors.lastname: Grewal
authors.affiliation: Imperial College Healthcare NHS Trust, London, United Kingdom.
authors.forename: Vasileios
authors.initials: V
authors.lastname: Panoulas
authors.affiliation: Epidemiology and Biostatistics, Imperial College London, Norfolk Place, London, United Kingdom.
authors.forename: Alexandra M
authors.initials: AM
authors.lastname: Lewin
authors.affiliation: MRC Clinical Sciences Centre, Imperial College London, London, United Kingdom.
authors.forename: Korrinne
authors.initials: K
authors.lastname: Northwood
authors.affiliation: Hero DMC Heart Institute, Dayanand Medical College and Hospital, Ludhiana, India.
authors.forename: Gurpreet S
authors.initials: GS
authors.lastname: Wander
authors.affiliation: Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom.
authors.forename: Frank
authors.initials: F
authors.lastname: Geoghegan
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Yingrui
authors.initials: Y
authors.lastname: Li
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.affiliation: MRC Clinical Sciences Centre, Imperial College London, London, United Kingdom.
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Aitman
authors.affiliation: 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.
authors.forename: Mark I
authors.initials: MI
authors.lastname: McCarthy
authors.affiliation: NHLI, Imperial College London, Hammersmith Hospital, London, United Kingdom.
authors.forename: James
authors.initials: J
authors.lastname: Scott
authors.affiliation: Centre for Integrative Systems Biology and Bioinformatics, Imperial College London, London, United Kingdom.
authors.forename: Sarah
authors.initials: S
authors.lastname: Butcher
authors.affiliation: 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.
authors.forename: Paul
authors.initials: P
authors.lastname: Elliott
authors.affiliation: 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.
authors.forename: Jaspal S
authors.initials: JS
authors.lastname: Kooner
mesh_terms: D000483:Alleles; D001208:Asia; D044466:Asian People / Q000235:genetics*; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*