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MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect.
Esposito, Daniel; Weile, Jochen; Shendure, Jay; Starita, Lea M; Papenfuss, Anthony T; Roth, Frederick P; Fowler, Douglas M; Rubin, Alan F.
Afiliación
  • Esposito D; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
  • Weile J; The Donnelly Centre, University of Toronto, Toronto, ON, Canada.
  • Shendure J; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
  • Starita LM; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Papenfuss AT; Department of Computer Science, University of Toronto, Toronto, ON, Canada.
  • Roth FP; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Fowler DM; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
  • Rubin AF; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
Genome Biol ; 20(1): 223, 2019 11 04.
Article en En | MEDLINE | ID: mdl-31679514
Multiplex assays of variant effect (MAVEs), such as deep mutational scans and massively parallel reporter assays, test thousands of sequence variants in a single experiment. Despite the importance of MAVE data for basic and clinical research, there is no standard resource for their discovery and distribution. Here, we present MaveDB ( https://www.mavedb.org ), a public repository for large-scale measurements of sequence variant impact, designed for interoperability with applications to interpret these datasets. We also describe the first such application, MaveVis, which retrieves, visualizes, and contextualizes variant effect maps. Together, the database and applications will empower the community to mine these powerful datasets.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Genómica / Bases de Datos Genéticas Idioma: En Revista: Genome Biol Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2019 Tipo del documento: Article País de afiliación: Australia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Genómica / Bases de Datos Genéticas Idioma: En Revista: Genome Biol Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2019 Tipo del documento: Article País de afiliación: Australia
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