Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

BACKGROUND: De novo mutations underlie individually rare but collectively common pediatric congenital disorders. Some of these mutations can also be detected in tissues and from cells in a parent, where their abundance and tissue distribution can be measured. We previously reported that a subset of...

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Detalles Bibliográficos
Autores principales: Breuss, Martin W, Yang, Xiaoxu, Stanley, Valentina, McEvoy-Venneri, Jennifer, Xu, Xin, Morales, Arlene J, Gleeson, Joseph G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9255958/
https://www.ncbi.nlm.nih.gov/pubmed/35787314
http://dx.doi.org/10.7554/eLife.78459

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9255958/
https://www.ncbi.nlm.nih.gov/pubmed/35787314
http://dx.doi.org/10.7554/eLife.78459

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