Aarhus University Seal

The mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

DOI

  • Lucie A. Bergeron, University of Copenhagen
  • ,
  • Søren Besenbacher
  • Tychele N. Turner, Washington University St. Louis
  • ,
  • Cyril J. Versoza, Arizona State University
  • ,
  • Richard J. Wang, Indiana University Bloomington
  • ,
  • Alivia Lee Price, University of Copenhagen
  • ,
  • Ellie Armstrong, Stanford University
  • ,
  • Meritxell Riera
  • Jedidiah Carlson, University of Washington
  • ,
  • Hwei Yen Chen, University of Copenhagen
  • ,
  • Matthew W. Hahn, Indiana University Bloomington
  • ,
  • Kelley Harris, University of Washington
  • ,
  • April Snøfrid Kleppe
  • ,
  • Elora H. López-Nandam, California Academy of Sciences
  • ,
  • Priya Moorjani, University of California at Berkeley
  • ,
  • Susanne P. Pfeifer, Arizona State University
  • ,
  • George P. Tiley, Duke University
  • ,
  • Anne D. Yoder, Duke University
  • ,
  • Guojie Zhang, University of Copenhagen
  • ,
  • Mikkel H. Schierup

In the past decade, several studies have estimated the human per-generation germline mutation rate using large pedigrees. More recently, estimates for various non-human species have been published. However, methodological differences among studies in detecting germline mutations and estimating mutation rates make direct comparisons difficult. Here, we describe the many different steps involved in estimating pedigree-based mutation rates, including sampling, sequencing, mapping, variant calling, filtering, and how to appropriately account for false-positive and false-negative rates. For each step, we review the different methods and parameter choices that have been used in the recent literature. Additionally, we present the results from a “Mutationathon”, a competition organized among five research labs to compare germline mutation rate estimates for a single pedigree of rhesus macaques. We report almost a two-fold variation in the final estimated rate among groups using different post-alignment processing, calling, and filtering criteria and provide details into the sources of variation across studies. Though the difference among estimates is not statistically significant, this discrepancy emphasizes the need for standardized methods in mutation rate estimations and the difficulty in comparing rates from different studies. Finally, this work aims to provide guidelines for computational and statistical benchmarks for future studies interested in identifying germline mutations from pedigrees.

Original languageEnglish
Article numbere73577
JournaleLife
Volume11
ISSN2050-084X
DOIs
Publication statusPublished - Jan 2022

Bibliographical note

Publisher Copyright:
© 2022, eLife Sciences Publications Ltd. All rights reserved.

See relations at Aarhus University Citationformats

ID: 270246368