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Genomics England PanelApp 1 year 2 months ago #1

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panelapp.genomicsengland.co.uk/ Genomics England  PanelApp is a publicly-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 and genomic entities (short tandem repeats/STRs and copy number variants/CNVs) 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.Diagnostic-grade ‘Green’ genes/genomic entities, and their modes of inheritance are used in genome interpretation. Originally developed to aid interpretation of participant genomes in the 100,000 Genomes Project, PanelApp is now also being used as the platform for achieving consensus on gene panels in the NHS Genomic Medicine Service (GMS). As panels in PanelApp are publicly available, they can also be used by other groups and projects.

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