Article

GenTIGS: A database empowering research and clinical insights on rare genetic disorders with an Indian perspective

2025-04-01

Abstract excerpt

Rare Genetic Diseases (RGDs) are conditions caused by gene mutations affecting less than 1 in 2,000 individuals, as per World Health Organization (WHO). India, being the most populous country in the world has a high prevalence of these diseases. The situation is worsened further due to the practice of consanguinity in several communities and limited genetic testing. Multiple recent developments, including advancem...

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Literature Corpus work: 82375f63-44ab-53f2-956b-bd9ac0f286cf
DOI: 10.1101/2025.04.01.25325014

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