Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in <i>KCNQ1, KCNH2</i> , and <i>SCN5A</i> Compared With Patch-Clamp Functional Characterization
Deep protein language models aid in VUS resolution with high sensitivity but lower specificity. Thus, these tools cannot fully replace functional characterization but can aid in reducing the number of variants that may require functional analysis.
Authors
- John R. Giudicessi (ORCID: https://orcid.org/0000-0001-5871-0265)
- Raquel Neves (ORCID: https://orcid.org/0000-0003-2619-0036)
- Sahej Bains (ORCID: https://orcid.org/0000-0002-1357-7656)
- David J. Tester (ORCID: https://orcid.org/0000-0003-4554-2244)
- Michael John Ackerman (ORCID: https://orcid.org/0000-0002-8011-3333)
- Ramin Garmany (ORCID: https://orcid.org/0000-0002-5756-7417)
- Xiaozhi Gao (ORCID: https://orcid.org/0000-0001-5843-2832)
- Wei Zhou (ORCID: https://orcid.org/0000-0002-5715-6079)
- Dan Ye (ORCID: https://orcid.org/0000-0003-0619-7070)
- Estefania Martinez-Barrios
Institutions
- Heart Rhythm Society (US)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2024-08-09
- DOI
- https://doi.org/10.1161/circgen.124.004584
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.10