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 efficient information retrieval. This platform provides information on 2306 RGDs and 2772 associated genes, including 691 disorders reported in India. It also includes details on 3525 clinical symptoms and 307 340 pathogenic variants for these disorders. GenTIGS offers comprehensive information and analytical tools for in-depth analysis and exploration of genes and variants associated with RGDs, thus supporting progress in genetic medicine and research through enhanced understanding and analysis. Accessible at https://db.tigs.res.in/gentigs/.