Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Publication/Presentation Date
3-12-2025
Abstract
Genomic sequencing is widely used to identify causative genetic changes in neurodevelopmental disorders, such as autism, intellectual disability, and epilepsy. Most neurodevelopmental disorders also present with diverse clinical features, and delineating the interaction between causative genetic changes and phenotypic features is a key prerequisite for developing personalized therapies. However, assessing clinical features at a scale that parallels genomic sequencing remains challenging. Here, we standardize phenotypic information across 11,125 patient-parent trios with exome sequencing data using biomedical ontologies, analyzing 674,767 phenotypic terms. We find that individuals with
ISSN
2692-8205
Published In/Presented At
Ganesan, S., Ruggiero, S. M., Parthasarathy, S., Galer, P. D., Lewis-Smith, D., McSalley, I., Cohen, S. R., Lusk, L., Prentice, A. J., McKee, J. L., Pendziwiat, M., Smith, L., Weber, Y., Mefford, H. C., Poduri, A., & Helbig, I. (2025). Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders. bioRxiv : the preprint server for biology, 2025.03.11.642649. https://doi.org/10.1101/2025.03.11.642649
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
40161685
Department(s)
Department of Pediatrics
Document Type
Article