Article
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Human mutation - 1 Nov 2020
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
Abstract excerpt
There have been concerted efforts toward cataloging rare and deleterious variants in different world populations using high-throughput genotyping and sequencing-based methods. The Indian population is underrepresented or its information with respect to clinically relevant variants is sparse in public data sets. The aim of this study was to estimate the burden of monogenic disease-causing variants in Indian...
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