SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.

ABSTRACT: South Asia is home to $\sim $20% of the world population and characterized by distinct ethnic, linguistic, cultural and genetic lineages. Only limited representative samples from the region have found its place in large population-scale international genome projects. The recent availability of genome scale data from multiple populations and datasets from South Asian countries in public domain motivated us to integrate the data into a comprehensive resource. In the present study, we have integrated a total of six datasets encompassing 1213 human exomes and genomes to create a compendium of 154 814 557 genetic variants and adding a total of 69 059 255 novel variants. The variants were systematically annotated using public resources and along with the allele frequencies are available as a bro

SUBMITTER: Hariprakash JM 

PROVIDER: S-EPMC6146123 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature