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Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

The number of de novo mutations (DNMs) found in an offspring's genome increases with both paternal and maternal age. But does the rate of mutation accumulation in human gametes differ across families? Using sequencing data from 33 large, three-generation CEPH families, we observed significant v...

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Detalles Bibliográficos
Autores principales: Sasani, Thomas A, Pedersen, Brent S, Gao, Ziyue, Baird, Lisa, Przeworski, Molly, Jorde, Lynn B, Quinlan, Aaron R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759356/
https://www.ncbi.nlm.nih.gov/pubmed/31549960
http://dx.doi.org/10.7554/eLife.46922