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MaveRegistry: a collaboration platform for multiplexed assays of variant effect.
Kuang, Da; Weile, Jochen; Kishore, Nishka; Nguyen, Maria; Rubin, Alan F; Fields, Stanley; Fowler, Douglas M; Roth, Frederick P.
Afiliação
  • Kuang D; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
  • Weile J; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
  • Kishore N; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
  • Nguyen M; Department of Computer Science, University of Toronto, Toronto, ON M5T 3A1, Canada.
  • Rubin AF; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
  • Fields S; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
  • Fowler DM; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
  • Roth FP; Department of Computer Science, University of Toronto, Toronto, ON M5T 3A1, Canada.
Bioinformatics ; 37(19): 3382-3383, 2021 Oct 11.
Article em En | MEDLINE | ID: mdl-33774657
SUMMARY: Multiplexed assays of variant effect (MAVEs) are capable of experimentally testing all possible single nucleotide or amino acid variants in selected genomic regions, generating 'variant effect maps', which provide biochemical insight and functional evidence to enable more rapid and accurate clinical interpretation of human variation. Because the international community applying MAVE approaches is growing rapidly, we developed the online MaveRegistry platform to catalyze collaboration, reduce redundant efforts, allow stakeholders to nominate targets and enable tracking and sharing of progress on ongoing MAVE projects. AVAILABILITY AND IMPLEMENTATION: MaveRegistry service: https://registry.varianteffect.org. MaveRegistry source code: https://github.com/kvnkuang/maveregistry-front-end.

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article