Article
Mitochondrial genetic variation across tissues of the human body.
Nucleic acids research - 20 May 2026
Fisher Nathaniel, Xue Liying, Smith Karan K, Tao Brian, Cunha Jason A, Ladenheim Scott, Moreira-Bouchard Jesse D, Milstone Zachary J, Zhebrun Anna, Zhang Xiaoling, Jun Gyungah R, Stein Thor D, Ang Ting Fang Alvin, Farrer Lindsay A, Farb Melissa G, Padera Robert F, Benjamin Emelia J, Levy Daniel, Gopal Deepa M, Isaac R Stefan, Lenburg Marc E, Choi Seung Hoan, Fetterman Jessica L
Abstract excerpt
Each mitochondrion contains 2-10 copies of the mitochondrial genome. Multiple mitochondria in a cell allow for mitochondrial genomes carrying different variants to co-exist within a cell or tissue, termed heteroplasmy. The extent to which mitochondrial genetic variation differs across tissues of the human body and the origins of heteroplasmic variants is largely unknown. Using next-generation sequencing of 47...
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