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

Genome biology
Authors
Keywords
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.

Year of Publication
2024
Journal
Genome biology
Volume
25
Issue
1
Pages
100
Date Published
04/2024
ISSN
1474-760X
DOI
10.1186/s13059-024-03223-9
PubMed ID
38641812
Links