The software behind Genomics England’s PanelApp, a crowdsourcing platform for sharing and evaluating gene panels, has now been made publicly available for the scientific and clinical community to use. Data from the 100,000 Genomes Project will not be shared or be made open source.
By making the PanelApp software open source, scientists in organisations across the world will be able to upload their own data to create gene panels for research.
PanelApp is a knowledgebase of virtual gene panels for rare diseases and cancer. It has a crowdsourcing tool that allows experts from around the world to provide reviews of genes and the underlying evidence for what may be causing disease. These panels are publicly available to browse, download, and query.
In each panel, genes are ranked using a traffic light system. Using specially designed software tools, the Genomics England Curation Team assess the crowdsourced expert reviews and evidence from other sources to define which genes have a high level of evidence for causation in a disease. Gene panels with strong evidence are classified as “green” for genome interpretation. The gene panels are used in Genomics England’s 100,000 Genomes Project to help prioritise genetic variants to gain diagnoses for rare disease patients, or highlight important inherited variants in cancer susceptibility genes for cancer patients. PanelApp is also being used to help support the process of gaining a consensus on which genes should be included in tests for the NHS Genomic Medicine Service.
The PanelApp software, which includes the review and curation tools described above, has been released in GitHub, making it available for the bioinformatics, research and clinical community to utilise.