PanelApp Australia is an open online platform enabling laboratories, clinicians and researchers to:
How does it work?
Evidence that a gene is linked to a disease is a key part of genomic analysis and variant interpretation.
Many Australian laboratories, clinical services and research groups create and maintain their own lists of genes associated with particular conditions, which are then used as part of genomic data analysis and interpretation, however these gene-disease validity assessments are not in a readily sharable format.
PanelApp Australia brings together multiple disparate silos of gene-disease validity assessments into a single national source, reducing gene curation burden on individual laboratory and clinical services, while improving diagnostic outcomes for Australians.
The open nature of the platform allows the crowdsourcing of contributions from many experts, facilitating the timely identification of newly published evidence regarding gene-disease associations. Rapid virtual panel comparison and disrecrepancy resolution can help achieve national consensus in specific disease areas, such as renal genetics or cardiology.
Background on PanelApp
The Genomics England team made the platform open source, which does not store identifiable clinical data, and worked closely with Australian Genomics to establish this Australian instance of the platform.
We hope to continue to co-develop the platform in the future, connecting the two instances to facilitate knowledge transfer between Genomics England and Australian Genomics, as well as extending PanelApp Australia for somatic use case.
The PanelApp Australia platform contains FAQs, guidelines and further information.
Watch PanelApp videos
We gratefully acknowledge the team at Genomics England: Ellen McDonagh, Antonio Rueda-Martin, Oleg Gerasimenko and Augusto Rendon for making the PanelApp code open source, and for their help in deploying this instance, and to all those who have helped in the development of the PanelApp software.