MaveMD: A functional data resource for genomic medicine.

ABSTRACT: Variant interpretation remains one of the most significant challenges in clinical genetics. Variants of uncertain significance (VUS) undermine precision medicine implementation because they have an unknown relationship to disease and cannot be used for clinical decision-making. While evidence from multiplexed assays of variant effect (MAVEs) and other functional assays can help classify variants, major barriers prevent routine use in clinical variant classification, including fragmentation across multiple repositories, insufficient data standards, and the need to calibrate assays clinically. Here we address these challenges by presenting a new interface for the MaveDB database called MaveMD (MAVEs for MeDicine) that integrates with external resources such as ClinVar and the ClinGen Allele

SUBMITTER: McEwen AE 

PROVIDER: S-EPMC12668102 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature