Genomics England | PanelApp: PanelApp
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| Database maintenance site: | Genomics England |
| Country/Region: | United Kingdom |
| Database description: | 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. |
| Organism(s) covered: | |
| Tag - Target: | Genome/Gene, Health/Disease |
| Tag - Information type: | Bibliography/Documents |
| Reference(s) - PubMed ID/DOI: | - |
| Language(s): | English |
| Operational status: | Active |
| Link(s) to Downloadable data: | - |
| Link(s) to Metadata of downloadable data: | - |
| Link(s) to Terms of use: | - |
| Link(s) to "How to use": | - |
| Contact information of database: | - |
| Link(s) to API / SPARQL endpoint | - |
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Link to LSDB Archive:
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Link to MEDALS Database list:
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Link to TogoTV:
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Link to FAIRsharing:
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https://fairsharing.org/10.25504/FAIRsharing.yfk4w2 |
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Similar databases:
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SYMPHONIE GAD Myc Cancer Gene LEGENDA (Archive) GeMCRIS GDGDB RADDAR-J |
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Record maintainer
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See the corresponding part in the FAIRsharing record. |
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Record source:
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 (2018-12-21)
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Date of creation of this record:
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2019-03-28 |
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Last update date of this record:
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2020-07-09 |
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Record license:
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Creative Commons Attribution and Share-alike (CC-BY-SA) International 4.0 license |