Table 1.
Details of publicly available resources that can aid in rare genetic disease research in India
| S. no. | Databases/resources | Description/URL | Reference |
|---|---|---|---|
| 1 | SAGE |
A compendium of genetic variants integrating South Asian whole genomes and exomes |
[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 |
[22] |
| 3 | MtBrowse |
Integrative genomics browser for human mitochondrial DNA hosting genomic variation data from over 5000 individuals with 22 disease phenotypes |
[79] |
| 4 | mit-o-matic |
A comprehensive cloud-based tool for clinical evaluation of mitochondrial genomic variations from NGS datasets |
[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 |
[51] |