INDEX-db: The Indian Exome Reference Database (Phase I)

J Comput Biol. 2019 Mar;26(3):225-234. doi: 10.1089/cmb.2018.0199. Epub 2019 Jan 7.

Abstract

Deep sequencing-based genetic mapping has greatly enhanced the ability to catalog variants with plausible disease association. Confirming how these identified variants contribute to specific disease conditions, across human populations, poses the next challenge. Differential selection pressure may impact the frequency of genetic variations, and thus detection of association with disease conditions, across populations. To understand genotype to phenotype correlations, it thus becomes important to first understand the spectrum of genetic variation within a population by creating a reference map. In this study, we report the development of phase I of a new database of genetic variations called INDian EXome database (INDEX-db), from the Indian population, with an aim to establish a centralized database of integrated information. This could be useful for researchers involved in studying disease mechanisms at clinical, genetic, and cellular levels.

Keywords: Indian population; genetic variations catalogue; population-specific database; whole exome sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases, Genetic*
  • Exome*
  • Genetic Variation
  • Genome-Wide Association Study / methods
  • Genome-Wide Association Study / standards*
  • Humans
  • India
  • Population / genetics*
  • Reference Standards
  • Software*
  • Whole Exome Sequencing / methods
  • Whole Exome Sequencing / standards*