Article

The population genetics of human disease: the case of recessive, lethal mutations

2016-12-04

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 in...

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Literature Corpus work: 62d95f7e-7f0b-557f-9b3f-76b49d686210
DOI: 10.1101/091579

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