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 and for the National Health Service England Genomic Medicine Service. 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 API (https://panelapp.genomicsengland.co.uk/#!API). More detailed background information, instructions and updates can be found on the PanelApp homepage tabs.

Homepage https://panelapp.genomicsengland.co.uk/

Countries that developed this resource United Kingdom

Created in 2015

Taxonomic range

User-defined Tags





How to cite this record FAIRsharing.org: PanelApp; Genomics England | PanelApp; DOI: https://doi.org/10.25504/FAIRsharing.yfk4w2; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Oct 24 2020 12:42 p.m.


This record is maintained by panelapp

Record added: April 12, 2016, 2:15 p.m.
Record updated: July 23, 2020, 3:34 p.m. by panelapp.

Show edit history





Access / Retrieve Data

Conditions of Use

Applies to: Data use

Data Access


Other Web Services



Publications

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

Martin AR,Williams E,Foulger RE,Leigh S,Daugherty LC,Niblock O,Leong IUS,Smith KR,Gerasimenko O,Haraldsdottir E,Thomas E,Scott RH,Baple E,Tucci A,Brittain H,de Burca A,Ibanez K,Kasperaviciute D,Smedley D,Caulfield M,Rendon A,McDonagh EM
Nat Genet 2019

View Paper (PubMed) View Publication

Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

No semantic standards defined

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined


Related Databases

No related databases defined


Implementing Policies

This record is not implemented by any policy.


Credit

Record Maintainer

Maintains