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Article

Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.

Genome research - 1 Mar 2022

Salazar Renato, Arbeithuber Barbara, Ivankovic Maja, Heinzl Monika, Moura Sofia, Hartl Ingrid, Mair Theresa, Lahnsteiner Angelika, Ebner Thomas, Shebl Omar, Pröll Johannes, Tiemann-Boege Irene

Abstract excerpt

De novo mutations (DNMs) are important players in heritable diseases and evolution. Of particular interest are highly recurrent DNMs associated with congenital disorders that have been described as selfish mutations expanding in the male germline, thus becoming more frequent with age. Here, we have adapted duplex sequencing (DS), an ultradeep sequencing method that renders sequence information on both DNA...

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Identifiers

PMID: 35210354
DOI: 10.1101/gr.275695.121
PMCID: PMC8896467

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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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