MaveMD: a functional data resource for genomic medicine
Abstract Variants of uncertain significance (VUS) have an unknown relationship with disease, undermining genetic medicine implementation. While multiplexed assays of variant effect (MAVEs) can help resolve VUS, major barriers prevent their routine clinical use. We present MaveMD (MAVEs for MeDicine; https://www.mavedb.org/mavemd ), a new MaveDB database interface that displays calibrated evidence strength, provides intuitive visualizations, integrates with established resources, and exports ready-to-use clinical evidence. MaveMD currently contains 476,076 variant effect measurements spanning 39 disease-associated genes, enabling classification of 75% of VUS. MaveMD supports future data generation efforts and the use of MAVE evidence in clinical practice, reducing VUS burden and improving outcomes.
Authors
- Douglas M. Fowler (ORCID: https://orcid.org/0000-0001-7614-1713)
- Alan F. Rubin (ORCID: https://orcid.org/0000-0003-1474-605X)
- Sally B. Grindstaff (ORCID: https://orcid.org/0000-0003-0930-0520)
- Pankhuri Gupta (ORCID: https://orcid.org/0009-0002-5802-1296)
- Malvika Tejura (ORCID: https://orcid.org/0000-0001-5356-1977)
- Jeremy Stone (ORCID: https://orcid.org/0000-0002-7565-2463)
- David Reinhart (ORCID: https://orcid.org/0009-0009-1975-4180)
- Estelle Y. Da (ORCID: https://orcid.org/0000-0002-9313-7860)
- Andrew B. Stergachis (ORCID: https://orcid.org/0000-0002-1299-3674)
- Lea M. Starita (ORCID: https://orcid.org/0000-0003-2870-5099)
- Abbye E. McEwen (ORCID: https://orcid.org/0000-0001-7187-7975)
- Benjamin J. Capodanno (ORCID: https://orcid.org/0009-0007-1273-879X)
- Nick Moore
- Ashley E. Snyder
Publication Details
- Journal
- Genome Medicine
- Published
- 2026-09-29
- DOI
- https://doi.org/10.1186/s13073-026-01782-z
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00