A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians

Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham S. Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia-Mahay, Madhulika Kabra, Ratna D. Puri, Kausik Mandal, Ishwar C. Verma, Stephanie L. Bielas, Shubha R. Phadke, Ashwin Dalal, Katta M. Girisha*

*Corresponding author for this work

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31 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology