A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans
Alexandre Bolze, Fernando Luis Mendez, Simon White, Francisco Tanudjaja, Magnus Isaksson, Ruomu Jiang, Andrew Dei Rossi, Elizabeth T. Cirulli, Misha D. Rashkin, William J. Metcalf, Joseph J. Grzymski, William Lee, James T. Lu, Nicole L. Washington
Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.
bioRxiv · Jun 26, 2020 · PreprintGenetics