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What is the VariantShare Compendia ?
Genetic variants and their annotations are key to enabling accurate genetic diagnosis of diseases. This initiative is aimed at systematically collecting information through an open crowd-sourcing approach on genetic variants and annotations, reported from India with disease associations. Only the variants and annotations are compiled, with no additional patient information. Since there has been no systematic compendium of all genetic variants reported from India. This initiative aims to fill in the gap.
Why this resource?
Interpretation of Genetic data to enable diagnosis of diseases is extensively dependent upon the knowledge of the prevalence and functionality of genetic variants. The advent of faster and efficient sequencing technologies has enabled an accelerated discovery of genetic variants in human populations. The lack of knowledge of the variants and annotations severely hampers interpretation and accurate diagnosis of diseases. This resource aims to systematically assemble the variant knowledgeable to enable genetic epidemiology and systematic interpretation of genetic data, through making the variants and and annotations in public domain.
Who can contribute to the resource ?
We are open to collaborating across the board with researchers, geneticists and clinicians to create the comprehensive resource, which would be available in public domain without any restrictions. Please mail us at vinods[at]igib.in if you would be interested.
Appropriate credits would be provided to all participants/collaborators in forthcoming publications depending on the quantum of contributions.