Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)
We found the potential linear relationship between trio-WES-diagnostic rates and the phenotypic enrichments in g-NDDs patients for the first time, indicating the possibility of applying a logistic regression model based on phenotypic features to predict the personalized diagnostic rates of using trio-WES in children with g-NDDs.
Authors
- Ruohao Wu (ORCID: https://orcid.org/0000-0003-4127-7156)
- Zhe Meng (ORCID: https://orcid.org/0000-0002-2364-2749)
- Liyang Liang (ORCID: https://orcid.org/0000-0002-4112-3520)
- Wenting Tang (ORCID: https://orcid.org/0009-0009-5801-6586)
- Xiangyang Luo
Institutions
- Sun Yat-sen University (CN)
- Sun Yat-sen Memorial Hospital (CN)
- Guangzhou Women and Children Medical Center (CN)
- Sun Yat-sen University Cancer Center (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-10-15
- DOI
- https://doi.org/10.3389/fneur.2025.1574021
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00