Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Genome biology
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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
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Journal | Genome biology
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Volume | 25
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Issue | 1
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Pages | 100
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Date Published | 04/2024
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ISSN | 1474-760X
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DOI | 10.1186/s13059-024-03223-9
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PubMed ID | 38641812
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