Article
Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.
Nature communications - 21 Aug 2017
Narasimhan Vagheesh M, Rahbari Raheleh, Scally Aylwyn, Wuster Arthur, Mason Dan, Xue Yali, Wright John, Trembath Richard C, Maher Eamonn R, van Heel David A, Auton Adam, Hurles Matthew E, Tyler-Smith Chris, Durbin Richard
Abstract excerpt
Heterozygous mutations within homozygous sequences descended from a recent common ancestor offer a way to ascertain de novo mutations across multiple generations. Using exome sequences from 3222 British-Pakistani individuals with high parental relatedness, we estimate a mutation rate of 1.45 ± 0.05 × 10-8 per base pair per generation in autosomal coding sequence, with a corresponding non-crossover gene conversion...
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