Article
Rate of de novo mutations and the importance of father's age to disease risk.
Nature - 23 Aug 2012
Kong Augustine, Frigge Michael L, Masson Gisli, Besenbacher Soren, Sulem Patrick, Magnusson Gisli, Gudjonsson Sigurjon A, Sigurdsson Asgeir, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Wong Wendy S W, Sigurdsson Gunnar, Walters G Bragi, Steinberg Stacy, Helgason Hannes, Thorleifsson Gudmar, Gudbjartsson Daniel F, Helgason Agnar, Magnusson Olafur Th, Thorsteinsdottir Unnur, Stefansson Kari
Abstract excerpt
Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. We show that in our samples, with an average father's age of 29.7, the average de novo mutation rate is 1.20 × 10(-8)...
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