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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Bibliografski detalji
Izdano u:Nat Genet
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2015
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Article
Online pristup: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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