Article
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Nature - 28 Sept 2017
Jónsson Hákon, Sulem Patrick, Kehr Birte, Kristmundsdottir Snaedis, Zink Florian, Hjartarson Eirikur, Hardarson Marteinn T, Hjorleifsson Kristjan E, Eggertsson Hannes P, Gudjonsson Sigurjon Axel, Ward Lucas D, Arnadottir Gudny A, Helgason Einar A, Helgason Hannes, Gylfason Arnaldur, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Rafnar Thorunn, Frigge Mike, Stacey Simon N, Th Magnusson Olafur, Thorsteinsdottir Unnur, Masson Gisli, Kong Augustine, Halldorsson Bjarni V, Helgason Agnar, Gudbjartsson Daniel F, Stefansson Kari
Abstract excerpt
The characterization of mutational processes that generate sequence diversity in the human genome is of paramount importance both to medical genetics and to evolutionary studies. To understand how the age and sex of transmitting parents affect de novo mutations, here we sequence 1,548 Icelanders, their parents, and, for a subset of 225, at least one child, to 35× genome-wide coverage. We find 108,778 de novo...
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