Performance of a Protein Language Model for Variant Annotation in Cardiac Disease
AlphaMissense, accessed via VarCard.io, may be a highly efficient tool for cardiac genetic variant interpretation. The engine's notable performance in assessing variants that are classified as variants of unknown significance in ClinVar demonstrates its potential to enhance cardiac genetic testing.
Authors
- Chirag R. Barbhaiya (ORCID: https://orcid.org/0000-0003-3479-936X)
- Leonid Garber (ORCID: https://orcid.org/0000-0003-1126-4100)
- Robert Knotts (ORCID: https://orcid.org/0000-0001-8971-0698)
- Marina Cerrone (ORCID: https://orcid.org/0000-0002-6122-9939)
- Douglas Holmes
- Lior Jankelson (ORCID: https://orcid.org/0000-0003-2714-2212)
- Anthony Aizer (ORCID: https://orcid.org/0000-0001-6550-0178)
- Jacob A. Martin (ORCID: https://orcid.org/0000-0003-3515-132X)
- Aviram Hochstadt (ORCID: https://orcid.org/0000-0002-9404-3145)
- Felix Yang (ORCID: https://orcid.org/0000-0001-8751-6752)
- Alexander Kushnir (ORCID: https://orcid.org/0000-0003-1644-643X)
- Larry A. Chinitz (ORCID: https://orcid.org/0000-0003-4454-6761)
- David Park (ORCID: https://orcid.org/0000-0001-5858-5353)
- Scott Bernstein
- Michael Spinelli
Publication Details
- Journal
- Journal of the American Heart Association
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1161/jaha.124.036921
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55