Parental influence on human germline de novo mutations in 1,548 trios from Iceland

@article{Jnsson2017ParentalIO,
  title={Parental influence on human germline de novo mutations in 1,548 trios from Iceland},
  author={H. J{\'o}nsson and P. Sulem and Birte Kehr and Snaed{\'i}s Kristmundsd{\'o}ttir and F. Zink and E. Hjartarson and Marteinn T Hardarson and K. E. Hjorleifsson and Hannes P. Eggertsson and S. A. Gudjonsson and L. D. Ward and G. Arnadottir and Einar A Helgason and H. Helgason and A. Gylfason and A. Jonasdottir and {\'A}. J{\'o}nasd{\'o}ttir and T. Rafnar and M. Frigge and S. Stacey and O. Magnusson and U. Thorsteinsdottir and G. M{\'a}sson and A. Kong and B. Halld{\'o}rsson and A. Helgason and D. Gudbjartsson and K. Stef{\'a}nsson},
  journal={Nature},
  year={2017},
  volume={549},
  pages={519-522}
}
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 mutations, both single nucleotide polymorphisms and indels, and determine the parent of… Expand
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