Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy‐associated genetic missense variants
We show which recently developed prediction tools achieve higher performance in epilepsy-associated genes and should be integrated, therefore, into the American College of Medical Genetics and Genomics/Association of Molecular Pathology (AGMC/AMP) variant classification process. Periodic reevaluation of genetic test results with newly developed or updated tools should be incorporated into standard clinical practice to improve diagnostic yield and better inform precision medicine.
Authors
- Tobias Brünger
- Dennis Lal (ORCID: https://orcid.org/0000-0002-5173-9636)
- Costin Leu (ORCID: https://orcid.org/0000-0003-0598-3301)
- Alina Ivaniuk (ORCID: https://orcid.org/0000-0001-9912-3112)
- Ludovica Montanucci (ORCID: https://orcid.org/0000-0003-2375-7359)
- Christian M. Boßelmann (ORCID: https://orcid.org/0000-0002-1596-5599)
- Eduardo Pérez‐Palma (ORCID: https://orcid.org/0000-0003-0546-5141)
- Samden Lhatoo (ORCID: https://orcid.org/0000-0002-0260-3855)
Institutions
- Broad Institute (US)
- Cleveland Clinic (US)
- Universidad del Desarrollo (CL)
- University of Cologne (DE)
- Clínica Alemana (CL)
- Cleveland Clinic Lerner College of Medicine (US)
- The University of Texas Health Science Center at Houston (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2024-10-23
- DOI
- https://doi.org/10.1111/epi.18155
- Citations
- 10
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.50