De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

Each human genome includes de novo mutations that arose during gametogenesis. While these germline mutations represent a fundamental source of new genetic diversity, they can also create deleterious alleles that impact fitness. Whereas the rate and patterns of point mutations in the human germline a...

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Detalles Bibliográficos
Autores principales: Belyeu, Jonathan R., Brand, Harrison, Wang, Harold, Zhao, Xuefang, Pedersen, Brent S., Feusier, Julie, Gupta, Meenal, Nicholas, Thomas J., Brown, Joseph, Baird, Lisa, Devlin, Bernie, Sanders, Stephan J., Jorde, Lynn B., Talkowski, Michael E., Quinlan, Aaron R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059337/
https://www.ncbi.nlm.nih.gov/pubmed/33675682
http://dx.doi.org/10.1016/j.ajhg.2021.02.012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059337/
https://www.ncbi.nlm.nih.gov/pubmed/33675682
http://dx.doi.org/10.1016/j.ajhg.2021.02.012

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