The population genetics of human disease: the case of recessive, lethal mutations
Carlos Eduardo G. Amorim, Ziyue Gao, Zachary Baker, José Francisco Diesel, Yuval B. Simons, Imran S. Haque, Joseph K. Pickrell, Molly Przeworski
The paper examines the frequencies of recessive lethal mutations in human populations and finds they are higher than expected, suggesting ascertainment bias rather than mutation-selection balance.
PLoS Genetics · Sep 28, 2017Peer-reviewedGenetics