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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]