ClinMAVE: a curated database for clinical application of data from multiplexed assays of variant effect.

ABSTRACT: The widespread use of next-generation sequencing in clinical practice has generated vast numbers of genetic variants from both inherited disorders and tumor profiling, many classified as variants of uncertain significance (VUS). These uncertain variants limit the clinical utility of genomic testing by constraining risk assessment, diagnosis, and treatment selection. Multiplexed Assays of Variant Effect (MAVEs) provide scalable, high-throughput functional data for variant characterization and are recognized by ACMG/AMP guidelines as valid evidence for clinical classification. However, existing resources lack harmonized annotations, structured evidence grading, and interoperability with clinical databases needed for application in genetic disease and somatic cancer workflows. Here, we develo

SUBMITTER: Ma C 

PROVIDER: S-EPMC12807648 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature