Article

Quantifying constraint in the human mitochondrial genome

2022-12-19

Abstract excerpt

Mitochondrial DNA (mtDNA) has an important, yet often overlooked, role in health and disease. Constraint models quantify the removal of deleterious variation from the population by selection, representing a powerful tool for identifying genetic variation underlying human phenotypes 1–4 . However, a constraint model for the mtDNA has not been developed, due to its unique features. Here we describe the development...

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Literature Corpus work: 807fc959-fd23-5092-bdc2-af15e4268a7d
DOI: 10.1101/2022.12.16.520778

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