The South Asian genome.

Area of Science:

• Human Genetics
• Population Genomics
• Bioinformatics

Background:

• Genetic variation in South Asians, representing a quarter of the global population, is not well-characterized.
• Understanding South Asian genetic diversity is crucial for addressing health disparities and disease prevalence.

Purpose of the Study:

• To comprehensively map genetic sequence variation in the South Asian population.
• To identify novel genetic variants and understand evolutionary pressures shaping South Asian genomes.
• To facilitate research into the genetic basis of prevalent diseases like type-2 diabetes and cardiovascular disease in South Asians.

Main Methods:

• Whole genome sequencing of 168 South Asian individuals.
• Whole exome sequencing of 147 South Asian individuals.
• Bioinformatic analysis to identify and catalogue autosomal sequence variants, including single nucleotide polymorphisms (SNPs) and insertions/deletions (indels).

Main Results:

• Identification of 12,962,155 autosomal sequence variants.
• Discovery of 2,946,861 novel SNPs and 312,738 novel indels.
• Evidence of selective pressures on genes related to skin biology, metabolism, infection, and immunity.

Conclusions:

• This study presents the first comprehensive map of genetic variation in South Asians.
• The identified variants and catalogue provide a valuable resource for genetic research in this population.
• The findings will accelerate the discovery of genetic factors contributing to prevalent South Asian diseases.