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

TL;DR

This paper establishes standardized reporting guidelines and a controlled vocabulary for Multiplexed Assays of Variant Effect (MAVEs) to enhance data reproducibility, interoperability, and reuse across diverse research disciplines.

Contribution

It introduces minimum information standards and an ontology-aligned vocabulary for MAVE data, addressing heterogeneity and promoting data sharing.

Findings

Defined minimum information standards for MAVE data

Developed a controlled vocabulary aligned with biomedical ontologies

Facilitated data reproducibility and reuse

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.