Evidence map›Paper›PMID 40048663›Full record

ArticleMolecular biology and evolution2025

Characterizing the Rates and Patterns of De Novo Germline Mutations in the Aye-Aye (Daubentonia madagascariensis).

Cyril J Versoza, Erin E Ehmke, Jeffrey D Jensen, Susanne P Pfeifer

Abstract read
In one paragraph

Article in Molecular biology and evolution, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

24 citing papers in PubMed.

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  16. Population size interacts with reproductive longevity to shape the germline mutation rate.Proceedings of the National Academy of Sciences of the United States of America · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Cyril J VersozaCenter for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.
Erin E EhmkeDuke Lemur Center, Durham, NC, USA.
Jeffrey D JensenCenter for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.ORCID 0000-0002-4786-8064
Susanne P PfeiferCenter for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.ORCID 0000-0003-1378-2913

Funding

On differentiating selective and neutral evolutionary processesR35GM139383 · NIGMS · ARIZONA STATE UNIVERSITY-TEMPE CAMPUS · PI JENSEN, JEFFREY D · 2021 to 2025
$3.0M
Characterizing the full spectrum of genomic variation in biomedically-relevant primatesR35GM151008 · NIGMS · ARIZONA STATE UNIVERSITY-TEMPE CAMPUS · PI Susanne P Pfeifer · 2023 to 2026
$1.6M
National Science Foundation DBI-2012668National Science Foundation DEB-2045343NIGMS NIH HHS R35 GM139383NIGMS NIH HHS R35 GM151008NIH HHS R35GM151008
6 · The paper itself

Abstract

Given the many levels of biological variation in mutation rates observed to date in primates-spanning from species to individuals to genomic regions-future steps in our understanding of mutation rate evolution will not only be aided by a greater breadth of species coverage across the primate clade but also by a greater depth as afforded by an evaluation of multiple trios within individual species. In order to help bridge these gaps, we here present an analysis of a species representing one of the most basal splits on the primate tree (aye-ayes), combining whole-genome sequencing of seven parent-offspring trios from a three-generation pedigree with a novel computational pipeline that takes advantage of recently developed pan-genome graphs, thereby circumventing the application of (highly subjective) quality metrics that has previously been shown to result in notable differences in the detection of de novo mutations and ultimately estimates of mutation rates. This deep sampling has enabled both a detailed picture of parental age effects and sex dependency in mutation rates, which we here compare with previously studied primates, but has also provided unique insights into the nature of genetic variation in one of the most endangered primates on the planet.

Indexed as

Germ-Line MutationMutation RateStrepsirhiniAnimalsFemaleMaleWhole Genome Sequencingmale mutation biasmutation ratemutation spectrumparental age effectprimatestrepsirrhine

Identifiers

PMID40048663
PMCPMC11884812

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.