Article
Spectrum of rare and common mitochondrial DNA variations from 1029 whole genomes of self-declared healthy individuals from India.
Computational biology and chemistry - 1 Oct 2024
Gupta Vishu, Jolly Bani, Bhoyar Rahul C, Divakar Mohit Kumar, Jain Abhinav, Mishra Anushree, Senthivel Vigneshwar, Imran Mohamed, Scaria Vinod, Sivasubbu Sridhar
Abstract excerpt
Mitochondrial disorders are a class of heterogeneous disorders caused by genetic variations in the mitochondrial genome (mtDNA) as well as the nuclear genome. The spectrum of mtDNA variants remains unexplored in the Indian population. In the present study, we have cataloged 2689 high confidence single nucleotide variants, small insertions and deletions in mtDNA in 1029 healthy Indian individuals. We found a major...
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