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Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
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.
Affiliation
  • Claussnitzer M; The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Parikh VN; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Cambridge, MA 02142, USA.
  • Wagner AH; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA, USA 94305.
  • Arbesfeld JA; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.
  • Bult CJ; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.
  • Firth HV; Department of Biomedical Informatics, The Ohio State University, Columbus, OH 43210, USA.
  • Muffley LA; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.
  • Nguyen Ba AN; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Riehle K; Wellcome Sanger Institute, Hinxton, Cambridge, UK.
  • Roth FP; Dept of Medical Genetics, Cambridge University Hospitals NHS Trust, Cambridge UK.
  • Tabet D; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
  • Bolognesi B; Department of Biology, University of Toronto at Mississauga, Mississauga, Ontario, Canada.
  • Glazer AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rubin AF; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.
ArXiv ; 2023 Jun 26.
Article de En | MEDLINE | ID: mdl-37426450
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 has 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.
Mots clés

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Guideline Langue: En Journal: ArXiv Année: 2023 Type de document: Article Pays d'affiliation: États-Unis d'Amérique

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Guideline Langue: En Journal: ArXiv Année: 2023 Type de document: Article Pays d'affiliation: États-Unis d'Amérique
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