Article
Three generation families: Analysis of de novo variants in autism.
European journal of human genetics : EJHG - 1 Sept 2023
Costa Claudia I Samogy, da Silva Campos Gabriele, da Silva Montenegro Eduarda Morgana, Wang Jaqueline Yu Ting, Scliar Marília, Monfardini Frederico, Zachi Elaine Cristina, Lourenço Naila C V, Chan Ada J S, Pereira Sergio L, Engchuan Worrawat, Thiruvahindrapuram Bhooma, Zarrei Mehdi, Scherer Stephen W, Passos-Bueno Maria Rita
Abstract excerpt
De novo variants (DNVs) analysis has proven to be a powerful approach to gene discovery in Autism Spectrum Disorder (ASD), which has not yet been shown in a Brazilian ASD cohort. The relevance of inherited rare variants has also been suggested, particularly in oligogenic models. We hypothesized that three-generation analyses of DNVs could provide new insights into the relevance of de novo and inherited variants...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.