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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Public Library of Science (PLoS) 2025-03-01
coleção:	PLoS Genetics
Acesso em linha:	https://doi.org/10.1371/journal.pgen.1011651
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!