Article

A novel, wave-shaped profile of germline selection of pathogenic mtDNA mutations is discovered by bypassing a classical statistical bias

2023-11-22

Abstract excerpt

The shift of the level of disease-causing mtDNA mutations (heteroplasmy) from mother to child is typically negatively correlated with the mother’s heteroplasmy (H m ). In other words, mothers with low H m tend to have children with a higher mutation level (H ch ) than their own. In contrast, mothers with high H m typically see a decrease in heteroplasmy in their children. This trend has been commonly interpret...

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Literature Corpus work: 3a45cba7-1d54-597c-ae3d-8bd949dc949d
DOI: 10.1101/2023.11.21.568140

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