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

Authors :
Melina Claussnitzer
Victoria N. Parikh
Alex H. Wagner
Jeremy A. Arbesfeld
Carol J. Bult
Helen V. Firth
Lara A. Muffley
Alex N. Nguyen Ba
Kevin Riehle
Frederick P. Roth
Daniel Tabet
Benedetta Bolognesi
Andrew M. Glazer
Alan F. Rubin
Source :
Genome Biology, Vol 25, Iss 1, Pp 1-8 (2024)
Publication Year :
2024
Publisher :
BMC, 2024.

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.

Details

Language :
English
ISSN :
1474760X
Volume :
25
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Genome Biology
Publication Type :
Academic Journal
Accession number :
edsdoj.5b2abbc9bf4533aed98196fa9861b1
Document Type :
article
Full Text :
https://doi.org/10.1186/s13059-024-03223-9