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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
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
3 MtBrowse Integrative genomics browser for human mitochondrial DNA hosting genomic variation data from over 5000 individuals with 22 disease phenotypes
4 mit-o-matic A comprehensive cloud-based tool for clinical evaluation of mitochondrial genomic variations from NGS datasets
5. INDEX-db Database of genetic variations from the Indian population [78]
6. TMC SNPdb First open source SNP database from whole exome data of 62 samples derived from cancer patients from India.
7. IGDD Indian Genetic Disease Database