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Screening For Rare Genetic Disorders At a Point-Of-Click

Genomics_2927230fFast and accurate diagnosis of disease-causing mitochondrial genetic mutations is now possible thanks to automation of the entire process of data analysis and interpretation by a team of researchers at the Delhi-based CSIR Institute of Genomics and Integrative Biology.

The comprehensive pipeline developed by a team led by Dr. Sridhr Sivasubbu and Dr. Vinod Scaria of IGIB includes methodologies to sequence mitochondrial genome using next generation sequencing and a software to appropriately analyse and interpret the data at a point-of-click.

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