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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.
Afiliación
  • 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, 94305, USA.
  • 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; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43215, USA.
  • Muffley LA; Department of Biomedical Informatics, The Ohio State University, Columbus, OH, 43210, 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, ON, 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, ON, Canada.
Genome Biol ; 25(1): 100, 2024 04 19.
Article en En | MEDLINE | ID: mdl-38641812
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proyectos de Investigación / Metadatos Idioma: En Revista: Genome Biol Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proyectos de Investigación / Metadatos Idioma: En Revista: Genome Biol Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido