Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India

• Published in: Human mutation Vol. 41; no. 11; pp. 1833 - 1847
• Main Authors: Narang, Ankita, Uppilli, Bharathram, Vivekanand, Asokachandran, Naushin, Salwa, Yadav, Arti, Singhal, Khushboo, Shamim, Uzma, Sharma, Pooja, Zahra, Sana, Mathur, Aradhana, Seth, Malika, Parveen, Shaista, Vats, Archana, Hillman, Sara, Dolma, Padma, Varma, Binuja, Jain, Vandana, Prasher, Bhavana, Sengupta, Shantanu, Mukerji, Mitali, Faruq, Mohammed
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.11.2020
• Subjects: ClinVar variants; Diabetes mellitus; Genetic screening; Genotypes; Genotyping; high‐throughput genotyping; Inborn errors of metabolism; Indian populations; monogenic diseases; Phenotypes; database; ClinVar variants; Indian populations; high-throughput genotyping; monogenic diseases

Clinindb, a database to catalogue the allele frequencies of clinically relevant genetic variants among Indians, aims to fill the gap for representation of Indian subjects in public databases. Nearly, 20K clinically variants were analyzed for their polymorphocity across control cohort and among patie...