P487: MaveMD: A functional data resource for genomic medicine*
Abstract
Variants of uncertain significance (VUS) affect up to 40% of genetic testing patients, disproportionately impacting individuals of non-European genetic ancestry. While multiplexed assays of variant effect (MAVEs) can reclassify half of VUS, clinical adoption remains limited by data fragmentation across repositories, insufficient data standards, and complex assay calibration requirements. We addressed these challenges by developing MaveMD (MAVEs for MeDicine), a clinical interface for the MaveDB database that integrates external resources, displays evidence calibrations, provides intuitive visualizations, and generates structured evidence compatible with ACMG/AMP guidelines.
Fields of Study & Subjects
Genomics and Rare Diseases
Electronic Health Records Systems
Genetic Associations and Epidemiology
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103979–103979
- Publication date
- 1 January 2026
- Language
- EN