Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect

2023/06/26 by Melina Claussnitzer, Claussnitzer, Melina, Victoria N. Parikh +25
Biochemistry, Genetics and Molecular Biology · #Bioinformatics and Genomic Networks #Biomedical Text Mining and Ontologies #FOS: Biological sciences #Genomics and Rare Diseases #Other Quantitative Biology (q-bio.OT)

paper · pdf · doi:10.48550/arxiv.2306.15113

openalex publication_date 2023/06/26 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Abstract

Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines has led to a heterogeneous mix of data formats and descriptions, which complicates the downstream use of the resulting datasets. To address these issues and promote reproducibility and reuse of MAVE data, we define a set of minimum information standards for MAVE data and metadata and outline a controlled vocabulary aligned with established biomedical ontologies for describing these experimental designs.

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