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

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.

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Publication Details

Journal
Nucleic Acids Research
Published
2025-11-13
DOI
https://doi.org/10.1093/nar/gkaf1102
Citations
2
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
3.63
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article

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

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2 citations
Nucleic Acids Research
Genomics and Rare Diseases
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article

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

Chenyu Ma, Li Zhao, Shizhi Wang, Xiaoyue Wang, Li Li, Pan Li, Zhang Zhang, Yaping Liu, Liheng Luo, Jiayu Wu, Xin Tang
article en
2 citations

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 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.

Nucleic Acids ResearchVol. 54(D1)
Chinese Academy of Sciences (CN), Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Peking Union Medical College Hospital (CN), Beijing Institute of Genomics (CN), Shanghai Center For Bioinformation Technology (CN), University of Chinese Academy of Sciences (CN)
Openalex Percentile: Top 6%
Genomics and Rare Diseases
3.63
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