Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders

Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders

IntroductionBalanced chromosomal abnormalities (BCAs) are structural variations that can underlie a wide spectrum of neurodevelopmental disorders, often remaining undetected by conventional diagnostic approaches. Whole-genome sequencing (WGS) allows for base-pair resolution of structural variants ac...

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Bibliographic Details
Main Authors: Simona Mellone, Alice Spano, Denise Vurchio, Giulia Borgonovi, Alessandro Ugonotti, Giulia Paglino, Alba Bianco, Sara Ronzani, Maurizio Sciancalepore, Flavia Prodam, Amanda Papa, Maurizio Viri, Umberto Dianzani, Mara Giordano
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
neurodevelopmental disorders
balanced chromosomal abnormalities
CHD7
SLC20A2
EP300
RBFOX3
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1603513/full
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