databases > DOI:10.25504/FAIRsharing.yfk4w2

ready Genomics England | PanelApp

Abbreviation:PanelApp

General Information
Genomics England PanelApp is a publically-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardisation of gene panels, and a consensus on which genes have sufficient evidence for disease association. The diagnostic grade ‘Green’ genes and their modes of inheritance in the Version 1+ PanelApp virtual gene panels are used to direct the variant tiering process for the interpretation of genomes in the 100,000 Genomes Project. As panels in PanelApp are publically available, they can also be utilised by others. Experts are asked to register (https://panelapp.genomicsengland.co.uk/accounts/registration/) in order to review and rate the genes on the panel to indicate whether there is a diagnostic-grade level of evidence for the gene to be implicated in a given disease. Bioinformaticians can access the data via the PanelApp webservices (https://panelapp.genomicsengland.co.uk/#!Webservices). More detailed background information, instructions and updates can be found on the PanelApp homepage tabs.




How to cite this record FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: Feb. 22, 2018, 3 p.m.; Last accessed: Oct 20 2018 12:47 a.m.


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Record updated: Feb. 14, 2018, 3:28 p.m. by emcdonagh.

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