Evolutionary BiologybioRxiv
Extreme purifying selection against point mutations in the human genome
N. E. Dukler, M. R. Mughal, R. Ramani…·A. Siepel
The paper introduces ExtRaINSIGHT to measure purifying selection in the human genome using whole genome sequences, finding ultraselection in specific regions and estimating lethal mutation rates.
DOI 10.1038/s41467-022-31872-6