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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896467/
https://www.ncbi.nlm.nih.gov/pubmed/35210354
http://dx.doi.org/10.1101/gr.275695.121