Significant abundance of cis configurations of mutations in diploid human genomes
Margret R. Hoehe, Ralf Herwig, Qing Mao, Brock A. Peters, Radoje Drmanac, George McDonald Church, Thomas Huebsch
The paper analyzes mutation phase in diploid human genomes and finds that protein-altering mutations are significantly more common in cis than trans configurations across diverse populations.
bioRxiv · Nov 17, 2017 · PreprintGenomics