Nature Communications (Aug 2017)

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

  • Vagheesh M. Narasimhan,
  • Raheleh Rahbari,
  • Aylwyn Scally,
  • Arthur Wuster,
  • Dan Mason,
  • Yali Xue,
  • John Wright,
  • Richard C. Trembath,
  • Eamonn R. Maher,
  • David A. van Heel,
  • Adam Auton,
  • Matthew E. Hurles,
  • Chris Tyler-Smith,
  • Richard Durbin

DOI
https://doi.org/10.1038/s41467-017-00323-y
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 7

Abstract

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Estimates of human mutation rates differ substantially based on the approach. Here, the authors present a multi-generational estimate from the autozygous segment in a non-European population that gives insight into the contribution of post-zygotic mutations and population-specific mutational processes.