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PanelApp Australia

Home Our project areas Genomic diagnostics PanelApp Australia

Summary

Finding evidence that a gene is linked to a particular disease is a key component of genomic analysis and reporting.

Focusing analysis on genes known to cause particular medical problems, such as epilepsy or immunodeficiency, increases the chance of making a timely diagnosis. However, knowledge about gene-disease relationships is constantly evolving in light of new gene discoveries, making the creation and maintenance of knowledge databases a resource-intensive, largely manual process.

PanelApp Australia is an open platform used by Australian laboratories, clinical and research groups to record and share structured gene-disease validity assessments. The open nature of the platform allows the crowdsourcing of contributions from many experts, which facilitates the timely identification of newly published evidence for gene-disease associations. The platform also serves as a tool to promote harmonisation and establishment of national consensus about which genes should be analysed for particular clinical indications, promoting evidence-based diagnostic practice while reducing duplication of effort.

The platform will also facilitate knowledge transfer between the Australian clinical genomics community and international gene curation efforts, benefiting patients in Australia and globally.

Project Leads

Headshot of Professor Zornitza Stark

Professor Zornitza Stark

Victorian Clinical Genetic Services

Contact zornitza.stark@vcgs.org.au

Professor Oliver Hofmann

University of Melbourne


More projects

RCPA QAP genomic interpretive module

Guidelines for the reanalysis of clinical data

Shariant

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(03) 9936 6345
info@australiangenomics.org.au
50 Flemington Road, Parkville
Victoria 3052 Australia

In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

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