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Article

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.

Genome research - 1 Sept 2021

Goldmann Jakob M, Hampstead Juliet E, Wong Wendy S W, Wilfert Amy B, Turner Tychele N, Jonker Marianne A, Bernier Raphael, Huynen Martijn A, Eichler Evan E, Veltman Joris A, Maxwell George L, Gilissen Christian

Abstract excerpt

The number of de novo mutations (DNMs) in the human germline is correlated with parental age at conception, but this explains only part of the observed variation. We investigated whether there is a family-specific contribution to the number of DNMs in offspring. The analysis of DNMs in 111 dizygotic twin pairs did not identify a substantial family-specific contribution. This result was corroborated by comparing...

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Identifiers

PMID: 34301630
DOI: 10.1101/gr.271809.120
PMCID: PMC8415378

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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