Minimum information and guidelines for reporting a multiplexed assay of variant effect.

Claussnitzer, Melina, Victoria N Parikh, Alex H Wagner, Jeremy A Arbesfeld, Carol J Bult, Helen Firth V, Lara A Muffley, et al. 2024. “Minimum Information and Guidelines for Reporting a Multiplexed Assay of Variant Effect.”. Genome Biology 25 (1): 100.

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 have 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.

Last updated on 08/28/2025
PubMed