Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.
Journal
Genome research
ISSN: 1549-5469
Titre abrégé: Genome Res
Pays: United States
ID NLM: 9518021
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
received:
26
04
2021
accepted:
14
01
2022
pubmed:
26
2
2022
medline:
11
3
2022
entrez:
25
2
2022
Statut:
ppublish
Résumé
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 strands; thus, one mutation can be reliably called in millions of sequenced bases. With DS, we examined ∼4.5 kb of the
Identifiants
pubmed: 35210354
pii: gr.275695.121
doi: 10.1101/gr.275695.121
pmc: PMC8896467
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
499-511Informations de copyright
© 2022 Salazar et al.; Published by Cold Spring Harbor Laboratory Press.
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