PLoS ONE · 2014 · 112 citations · 39 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsCardiovascular GenomicsDisease Susceptibility LociGenetic DisordersGenetic SusceptibilityGenome SequencingVariant InterpretationExome SequencingGenetic Risk VariantsGenomic DisordersGenomic Variant InterpretationHuman Population StructurePopulation Sequence VariationSkin Disease GeneticsWhole Exome Sequencing Studies
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.
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The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
A map of human genome variation from population-scale sequencing