Australian Genomics Health Alliance
This project has been completed.
The information below may be out of date,
and is provided for historical purposes only.
The Australian Genomics Health Alliance (AGHA) is Australia’s link to the Global Alliance for Genomics and Health. Melbourne Bioinformatics is one of 80 partners across Australia and internationally who are participated in this exciting project which aimed to integrate genomic medicine into Australian healthcare. Members included clinical genetics services, research institutes, public pathology laboratories, hospitals, universities, professional bodies and patient advocacy groups. Their goal was to ensure that this relatively new practice of genome sequencing to aid in diagnoses is implemented into clinical practice in a responsible, reliable way.
Our involvement in this project was through our existing relationship with Natalie Thorne (Melbourne Genomics). Prof Andrew Lonie and A/Prof Bernard Pope led our effort to assist in curating a registry of clinical pipelines already in use throughout Australia with the aim of developing a standard vocabulary for pipeline comparison, and a structured representation for improved pipeline elucidation and visualisation. This involved finding out what is being used around the country, making sure these tools are searchable and findable and that they are documented in language which is uniform. For each workflow, the aim was to establish what version of a software is being used, what databases are being accessed and what filtering processes are being employed.
For more information, see Australian Genomics Health Alliance.