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

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 ca...

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Publicat a:PLoS Genet
Autors principals: Amorim, Carlos Eduardo G., Gao, Ziyue, Baker, Zachary, Diesel, José Francisco, Simons, Yuval B., Haque, Imran S., Pickrell, Joseph, Przeworski, Molly
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5619689/
https://ncbi.nlm.nih.gov/pubmed/28957316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006915
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