NIDHI SHARMA

Dr. NIDHI SHARMA


Research Focus & Metrics

Academic Career Length

3Years (2024-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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23 September 2024 in Diseases
Verified
Journal Article
Open access
PDF file
SMSudhir Mehta
Sudhir Mehta
KMKrishna Mohan Medicherla
Krishna Mohan Medicherla
SGSandhya Gulati
Sandhya Gulati
NSNIDHI SHARMA
NIDHI SHARMA
RPRabia Parveen
Rabia Parveen
Prashanth N SuravajhalaPrashanth N Suravajhala
Prashanth N Suravajhala
Aplastic anaemia (AA) is a rare hypocellular bone marrow disease with a large number of mutations in the telomerase reverse transcriptase gene (TERT), leading to bone marrow failure. We used our benchmarked whole exome sequencing (WES) pipeline to identify variants in adult Indian subjects with apparently acquired AA. For 36 affected individuals, we sequenced coding regions to a mean coverage of 100× and a sufficient depth was achieved. Downstream validation and filtering to call mutations in patients treated with Cyclosporin A (CsA) identified variants associated with AA. We report four mutations across the genes associated with the AA, TERT and CYP3A5, in addition to other genes, viz., IFNG, PIGA, NBS/NBN, and MPL. We demonstrate the application of WES to discover the variants associated with CsA responders and non-responders in an Indian cohort.