Genomics England | PanelApp
How to cite this record FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: Jan. 8, 2019, 1:22 p.m.; Last accessed: Dec 14 2019 9:56 p.m.
Record added: April 12, 2016, 2:15 p.m.
Record updated: Feb. 14, 2018, 3:28 p.m. by emcdonagh.
Edits to 'https://fairsharing.org/FAIRsharing.yfk4w2' by 'emcdonagh' at 15:28, 14 Feb 2018 (approved): 'supportLinks' has been modified: Before: https://bioinfo.extge.co.uk/crowdsourcing/PanelApp/ @GenomicsEngland @PanelApp After: https://panelapp.genomicsengland.co.uk/ @GenomicsEngland Added: https://panelapp.genomicsengland.co.uk/ Removed: https://bioinfo.extge.co.uk/crowdsourcing/PanelApp/ @PanelApp
Edits to 'https://fairsharing.org/FAIRsharing.yfk4w2' by 'emcdonagh' at 15:25, 14 Feb 2018 (approved): 'description' has been modified: Before: The 100,000 Genomes Project database is publicly available via the PanelApp tool/app and gene panels can be viewed and downloaded from the website, or queried using the PanelApp web services. PanelApp is a crowdsourcing tool to allow gene panels to be shared, downloaded, viewed and evaluated by the Scientific Community. Gene panels were initially established for all the rare diseases in the 100,000 Genomes Project. The full list of available panels is available here: https://bioinfo.extge.co.uk/crowdsourcing/PanelApp/PanelBrowser. Experts are asked to register 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. Guidelines for the level of evidence are provided on the Gene Panel Guidelines and Principles tab on the homepage. More detailed background information, instructions and updates can be found on the PanelApp homepage tabs. After: 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.
No guidelines defined
No semantic standards defined
Models and Formats
No syntax standards defined
No identifier schema standards defined
No metrics standards defined
No related databases defined
This record is not implemented by any policy.