Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms
Our study highlights the significant variation in the performance of different <i>in silico</i> tools for predicting <i>CHD2</i> missense variant pathogenicity. Given its overall performance, MutPred2 and AlphaMissense may be the preferred choice for clinical application in <i>CHD2</i>-associated DEE, providing possible reference in optimizing genetic diagnosis and classification of <i>CHD2</i> missense variants.
Authors
- Jia-He Lai
- Yujie Gu
- Bao‐Zhu Guan
- Qing-Qing Fu
- Pengyu Wang (ORCID: https://orcid.org/0000-0002-6336-7673)
- Xin Chen (ORCID: https://orcid.org/0000-0002-9588-0164)
- Xianghong Liu (ORCID: https://orcid.org/0000-0001-5395-8165)
Institutions
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- Ganzhou People's Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-11-26
- DOI
- https://doi.org/10.3389/fneur.2025.1729387
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82