Article

A novel phylogenetic analysis and machine learning predict pathogenicity of human mtDNA variants

2020-01-11

Abstract excerpt

<h4>ABSTRACT</h4> Linking mitochondrial DNA (mtDNA) variation to clinical outcomes remains a formidable challenge. Diagnosis of mitochondrial disease is hampered by the multicopy nature and potential heteroplasmy of the mitochondrial genome, differential distribution of mutant mtDNAs among various tissues, genetic interactions among alleles, and environmental effects. Here, we describe a new approach to the asses...

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Literature Corpus work: 8a825fb9-b083-53a4-ad4e-64a99aeb4fc0
DOI: 10.1101/2020.01.10.902239

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