Department of Biotechnology
inStem (Institute for Stem Cell Science and Regenerative Medicine)

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

Publication Type

Research Support, Non-U.S. Gov't

Date of Publication

March 1, 2019

Journal

Journal of computational biology : a journal of computational molecular cell biology

Volume/Issue

26/3

ISSN

1557-8666

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.

Alternate Journal

J Comput Biol

PubMed ID

30615482

PubMed Central ID

PMC6441288

Authors

Husayn Ahmed P
Vidhya V
Ravi Prabhakar More
Biju Viswanath
Sanjeev Jain
Mahendra S Rao
Odity Mukherjee

Keywords

Reference Standards
India
Exome
Databases, Genetic
Genetic Variation
Genome-Wide Association Study
Population
Software
Exome Sequencing
Humans