Article
The population genetics of human disease: The case of recessive, lethal mutations.
PLoS genetics - 1 Sept 2017
Amorim Carlos Eduardo G, Gao Ziyue, Baker Zachary, Diesel José Francisco, Simons Yuval B, Haque Imran S, Pickrell Joseph, Przeworski Molly
Abstract excerpt
Do the frequencies of disease mutations in human populations reflect a simple balance between mutation and purifying selection? What other factors shape the prevalence of disease mutations? To begin to answer these questions, we focused on one of the simplest cases: recessive mutations that alone cause lethal diseases or complete sterility. To this end, we generated a hand-curated set of 417 Mendelian mutations...
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