Kaiyue Ma

Oct 16, 2024 | nature.com | Nicole J Lake |Kaiyue Ma |Stephanie L. Battle |Kenneth Ng |Alison G. Compton |John Christodoulou | +4 more

AbstractMitochondrial 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 phenotypes1,2,3,4. However, nuclear constraint models are not applicable to mtDNA, owing to its distinct features.