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

作者：Chenyu Ma, Li Zhao, Xin Tang, Pan Li, Li Li, Shiting Wang, Jiayu Wu, Liheng Luo, Yaping Liu, Zhang Zhang, Xiaoyue Wang · 发表于：Nucleic Acids Research · 年份：2025 · DOI：10.1093/nar/gkaf1102 · 被引用次数：2 · 研究领域：Genomics and Rare Diseases、Cancer Genomics and Diagnostics、Genetic Associations and Epidemiology

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 developed ClinMAVE (https://ngdc.cncb.ac.cn/clinmave/), a curated database for clinical application of MAVE data. ClinMAVE offers functional evidence for over 2.1 million variants across 821 genes, with standardized annotations, detailed assay context, and ACMG/AMP-aligned evidence grading. Integrated with ClinVar, gnomAD, TCGA, and in silico tools, ClinMAVE bridges the gap between experimental data and clinical standards, providing a unified, clinician-ready platform for functional variant interpretation in both hereditary disease and cancer genomics.