Article

<i>mity</i> : A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data

2019-11-22

Abstract excerpt

<h4>Motivation</h4> Mitochondrial diseases (MDs) are the most common group of inherited metabolic disorders and are often challenging to diagnose due to extensive genotype-phenotype heterogeneity. MDs are caused by mutations in the nuclear or mitochondrial genome, where pathogenic mitochondrial variants are usually heteroplasmic and typically at much lower allelic fraction in the blood than affected tissues. Both...

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Literature Corpus work: 6ce78ed0-74c6-5483-86e1-3daf9c2ed250
DOI: 10.1101/852210

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