Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes
Emerging in silico tools can revolutionize genetic disease diagnosis-however, improvement, refinement, and clinical validation are imperative prior to practical acquisition.
Authors
- David Beeson (ORCID: https://orcid.org/0000-0001-9395-7132)
- Sithara Ramdas (ORCID: https://orcid.org/0000-0003-3790-2190)
- Yin Yao Dong (ORCID: https://orcid.org/0000-0001-8600-6988)
- Leighann Henehan
- Jacqueline A. Palace (ORCID: https://orcid.org/0000-0003-4779-6133)
- Finlay Ryan‐Phillips (ORCID: https://orcid.org/0009-0007-3091-6860)
Institutions
- John Radcliffe Hospital (GB)
- University of Oxford (GB)
Publication Details
- Journal
- Biomedicines
- Published
- 2024-11-08
- DOI
- https://doi.org/10.3390/biomedicines12112549
- Citations
- 3
- Primary Topic
- Myasthenia Gravis and Thymoma
- Type
- article
- Field-Weighted Citation Impact
- 1.11
Funders
- Medical Research Council