Genome-wide patterns and properties of de novo mutations in humans

Mutations create variation in the population, fuel evolution, and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect (1–10). Here, we analyze 11,020 de novo mutations from whole-genomes of 250 families. We show that de novo mutations in offspring of o...

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Publicado no:Nat Genet
Main Authors: Francioli, Laurent C., Polak, Paz P., Koren, Amnon, Menelaou, Androniki, Chun, Sung, Renkens, Ivo, van Duijn, Cornelia M., Swertz, Morris, Wijmenga, Cisca, van Ommen, Gertjan, Slagboom, P. Eline, Boomsma, Dorret I., Ye, Kai, Guryev, Victor, Arndt, Peter F., Kloosterman, Wigard P., de Bakker, Paul I. W., Sunyaev, Shamil R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4485564/
https://ncbi.nlm.nih.gov/pubmed/25985141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3292
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