MaveMD: a functional data resource for genomic medicine

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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.
Funding Information
  • RUNX1 Foundation (21-25037)
  • Alex's Lemonade Stand Foundation for Childhood Cancer
  • Brotman Baty Institute (CC28)
  • Warren Alpert Foundation (WAF-CLEP-PD 10089501-01)
  • Burroughs Wellcome Fund
  • Pew Charitable Trusts
  • National Human Genome Research Institute (R01HG013025)
  • National Human Genome Research Institute (UM1HG011969)
  • Medical Research Future Fund