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

Abstract

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.

Keywords

• Genomics
• Standards
• Genetic variants
• Multiplexed assays of variant effect
• MAVE
• Deep mutational scanning