P656: Using functional data for VUS reclassification in cancer predisposition genes
the results from certain experiments as evidence within specific classification guidelines.As more functional data are generated by both clinical and research laboratories, it's critical to make the data findable and accessible to variant scientists and clinicians.Presenting functional data in ClinVar makes it easily accessible both to individual users on the ClinVar website and to software systems that process the entire ClinVar dataset or access it programmatically.
Authors
- Douglas M. Fowler (ORCID: https://orcid.org/0000-0001-7614-1713)
- Lea Starita
- Martha Horike‐Pyne
- Runjun D. Kumar (ORCID: https://orcid.org/0000-0001-7369-5956)
- Pankhuri Gupta (ORCID: https://orcid.org/0009-0002-5802-1296)
- Fuki M. Hisama (ORCID: https://orcid.org/0000-0001-7772-7855)
- Andrew Folta
- Andrew B. Stergachis (ORCID: https://orcid.org/0000-0002-1299-3674)
- Adriana Sedeno Cortes
- Brian H. Shirts (ORCID: https://orcid.org/0000-0002-7188-6764)
- Abbye E. McEwen (ORCID: https://orcid.org/0000-0001-7187-7975)
- Eric Kao
Institutions
- University of Washington (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103025
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00