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Publications

by Keyword: Deep mutational scanning

Claussnitzer, Melina, Parikh, Victoria N, Wagner, Alex H, Arbesfeld, Jeremy A, Bult, Carol J, Firth, Helen V, Muffley, Lara A, Ba, Alex N Nguyen, Riehle, Kevin, Roth, Frederick P, Tabet, Daniel, Bolognesi, Benedetta, Glazer, Andrew M, Rubin, Alan F, (2024). Minimum information and guidelines for reporting a multiplexed assay of variant effect Genome Biology 25, 100

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.

JTD Keywords: Deep mutational scanning, Dms, Genetic variants, Genomics, Mave, Multiplexed assays of variant effect, Standards