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Article

Quantifying constraint in the human mitochondrial genome.

Nature - 1 Nov 2024

Lake Nicole J, Ma Kaiyue, Liu Wei, Battle Stephanie L, Laricchia Kristen M, Tiao Grace, Puiu Daniela, Ng Kenneth K, Cohen Justin, Compton Alison G, Cowie Shannon, Christodoulou John, Thorburn David R, Zhao Hongyu, Arking Dan E, Sunyaev Shamil R, Lek Monkol

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 and represent powerful tools for identifying genetic variation that underlies human phenotypes1-4. However, nuclear constraint models are not applicable to mtDNA, owing to its distinct features. Here we describe the development...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39415008
DOI: 10.1038/s41586-024-08048-x
PMCID: PMC11646341

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