P487: MaveMD: A functional data resource for genomic medicine*

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Authors: Abbye E. McEwen, Jeremy Stone, Malvika Tejura, Pankhuri Gupta, Estelle Y. Da, Benjamin J. Capodanno, Sally B. Grindstaff, Nick Moore, David Reinhart, Ashley M. Snyder, Andrew Stergachis, Lea M. Starita
+2 more Douglas M. Fowler, Alan F. Rubin
Cited by: 0

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