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by Keyword: Multiplexed assays of variant effect
Claussnitzer, M, Parikh, VN, Wagner, AH, Arbesfeld, JA, Bult, CJ, Firth, HV, Muffley, LA, Ba, ANN, Riehle, K, Roth, FP, Tabet, D, Bolognesi, B, Glazer, AM, Rubin, AF, (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
