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

ABSTRACT: Rare genetic disorders (RGDs) are conditions affecting fewer than 1 in 2000 individuals. Recent advances in genetics and healthcare renewed hope for better diagnosis and treatment. RGDs are common in India due to consanguinity and limited diagnostic testing. To converge the global- and India-specific knowledge about RGDs to a single platform for researchers, clinicians, and stakeholders, we developed GenTIGS database-a "go-to platform" for information retrieval and data analysis. GenTIGS is a comprehensive database containing information about genes, pathogenic variants, and clinical symptoms, with a focus on disorders reported globally and in India. GenTIGS delivers a variety of features and data points important to researchers, academicians, and clinicians in the RGD domain, ensuring eff

SUBMITTER: Rashid I 

PROVIDER: S-EPMC12604666 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature