GenomicsbioRxivPreprint
A novel, wave-shaped profile of germline selection of pathogenic mtDNA mutations is discovered by bypassing a classical statistical bias.
Melissa Franco, Auden Cote-L’Heureux, Zoë Fleischmann…·Konstantin Khrapko
This paper reveals a wave-shaped germline selection profile of mtDNA mutations by correcting for regression to the mean bias, showing how mutations are filtered in the germline.