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Table 1 Details of publicly available resources that can aid in rare genetic disease research in India

From: Genomics of rare genetic diseases—experiences from India

S. no.

Databases/resources

Description/URL

Reference

1

SAGE

A compendium of genetic variants integrating South Asian whole genomes and exomes

http://clingen.igib.res.in/sage/

[76]

2

IGVdb

A DNA variation database of the people of India available to researchers for understanding human biology with respect to disease predisposition, adverse drug reaction, population migration, etc

http://www.igvdb.res.in/index.php

[22]

3

MtBrowse

Integrative genomics browser for human mitochondrial DNA hosting genomic variation data from over 5000 individuals with 22 disease phenotypes

http://ab-openlab.csir.res.in/cgi-bin/gb2/gbrowse

[79]

4

mit-o-matic

A comprehensive cloud-based tool for clinical evaluation of mitochondrial genomic variations from NGS datasets

http://genome.igib.res.in/mitomatic/help.html

[80]

5.

INDEX-db

Database of genetic variations from the Indian population http://indexdb.ncbs.res.in/

[78]

6.

TMC SNPdb

First open source SNP database from whole exome data of 62 samples derived from cancer patients from India.

http://www.actrec.gov.in/pi-webpages/AmitDutt/TMCSNP/TMCSNPdp.html

[81]

7.

IGDD

Indian Genetic Disease Database

http://www.igdd.iicb.res.in/

[51]