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Claussnitzer, Melina; Parikh, Victoria N.; Wagner, Alex H.; Arbesfeld, Jeremy A.; Bult, Carol J.; Firth, Helen V.; Muffley, Lara A.; Nguyen Ba, Alex N.; Riehle, Kevin; Roth, Frederick P.; Tabet, Daniel; Bolognesi, Benedetta; Glazer, Andrew M.; Rubin, Alan F.

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

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  • Medientyp: E-Artikel
  • Titel: Minimum information and guidelines for reporting a multiplexed assay of variant effect
  • Beteiligte: Claussnitzer, Melina; Parikh, Victoria N.; Wagner, Alex H.; Arbesfeld, Jeremy A.; Bult, Carol J.; Firth, Helen V.; Muffley, Lara A.; Nguyen Ba, Alex N.; Riehle, Kevin; Roth, Frederick P.; Tabet, Daniel; Bolognesi, Benedetta; Glazer, Andrew M.; Rubin, Alan F.
  • Erschienen: Springer Science and Business Media LLC, 2024
  • Erschienen in: Genome Biology, 25 (2024) 1
  • Sprache: Englisch
  • DOI: 10.1186/s13059-024-03223-9
  • ISSN: 1474-760X
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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.</jats:p>
  • Zugangsstatus: Freier Zugang