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

Genome Biology(2024)

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摘要
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.
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关键词
Genomics,Standards,Genetic variants,Multiplexed assays of variant effect,MAVE,Deep mutational scanning,DMS
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