The Y-chromosome point mutation rate in humans

@article{Helgason2015TheYP,
  title={The Y-chromosome point mutation rate in humans},
  author={Agnar Helgason and Axel W Einarsson and Valdis B. Guðmundsd{\'o}ttir and {\'A}sgeir Sigurðsson and Ellen Drofn Gunnarsd{\'o}ttir and Anuradha Jagadeesan and S Sunna Ebenesersd{\'o}ttir and Augustine Kong and K{\'a}ri Stef{\'a}nsson},
  journal={Nature Genetics},
  year={2015},
  volume={47},
  pages={453-457}
}
Mutations are the fundamental source of biological variation, and their rate is a crucial parameter for evolutionary and medical studies. Here we used whole-genome sequence data from 753 Icelandic males, grouped into 274 patrilines, to estimate the point mutation rate for 21.3 Mb of male-specific Y chromosome (MSY) sequence, on the basis of 1,365 meioses (47,123 years). The combined mutation rate for 15.2 Mb of X-degenerate (XDG), X-transposed (XTR) and ampliconic excluding palindromes (rAMP… CONTINUE READING
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Estimating the human mutation rate using autozygosity in a founder population

  • Campbell, C.D
  • Nat. Genet
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