GenTIGS : Recently, the Tata Institute for Genetics and Society (TIGS), Bengaluru, developed GenTIGS, a gene database aimed at facilitating the early identification and diagnosis of rare genetic disorders.
o It is designed to simplify access and analysis of data related to RGDs and their associated genetic mutations, such as: Nonsynonymous mutations, Microsatellites and Gene duplications
o Key Information Provided: Globally and Indian-prevalent rare genetic disorders
ü Causative genes and specific mutations
ü Descriptions of the disorders
ü Gene Ontology (GO) terms
ü Clinical interpretations and Cross-references to external genomic databases
o Features : Offers flexible search options and a user-friendly browser.
ü Includes hyperlinks to various external datasets for in-depth exploration.
ü Supports both experimental and computational research on rare disorders.
o Existing genomic databases
o The latest Human Genome sequence data
o Variants in GenTIGS are mapped to IndiGenomes metadata for accurate annotation and understanding of disease associations
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