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, Zhibin Chen, Mark Khrapko, Benjamin Vyshedskiy, Maxim Braverman, Konstantin Yu. Popadin, Sarah J. Pickett, Dori C. Woods, Jonathan L. Tilly, Douglass M. Turnbull, 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.
bioRxiv · Nov 21, 2023 · PreprintGenomics