Nature Communications (Sep 2018)

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

  • Jedidiah Carlson,
  • Adam E. Locke,
  • Matthew Flickinger,
  • Matthew Zawistowski,
  • Shawn Levy,
  • Richard M. Myers,
  • Michael Boehnke,
  • Hyun Min Kang,
  • Laura J. Scott,
  • Jun Z. Li,
  • Sebastian Zöllner,
  • The BRIDGES Consortium

DOI
https://doi.org/10.1038/s41467-018-05936-5
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 13

Abstract

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Germline mutation rate is a critical parameter in the study of genetics and evolution. Here, Carlson et al. infer fine-scale patterns of human mutation rate heterogeneity by analyzing ~36 million singleton variants from 3560 whole-genome sequences.