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

Melina ClaussnitzerVictoria N ParikhAlex H WagnerJeremy A ArbesfeldCarol J BultHelen V FirthLara A MuffleyAlex N Nguyen BaKevin RiehleFrederick P RothDaniel TabetBenedetta BolognesiAndrew M GlazerAlan F Rubin
Published in: Genome biology (2024)
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.
Keyphrases
  • electronic health record
  • big data
  • high throughput
  • single cell
  • emergency department
  • adverse drug
  • wastewater treatment
  • rna seq
  • social media
  • drug induced