Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

De novo mutations (DNMs) have a significant impact on human health, notably through their contribution to developmental disorders. DNMs occur in both paternal and maternal germlines via diverse mechanisms, including parental early embryonic mosaicism, at high recurrence risk for subsequent pregnanci...

Full description

Saved in:
Bibliographic Details
Main Authors: François Lecoquierre, Nathalie Drouot, Sophie Coutant, Olivier Quenez, Steeve Fourneaux, Fanny Jumeau, Nathalie Rives, Françoise Charbonnier, Céline Derambure, Anne Boland, Robert Olaso, Vincent Meyer, Jean-François Deleuze, Alice Goldenberg, Anne-Marie Guerrot, Camille Charbonnier, Gaël Nicolas
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-03-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1011651
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1371/journal.pgen.1011651

Similar Items