Australian Genomics marks an important milestone this month, with summary level genomic data housed in its Variant Atlas platform now available to clinicians, scientists and researchers for secondary research.

Variant Atlas is a controlled-access, integrated genomics platform designed to support the analysis of Australian Genomics research cohorts. The platform was developed for Australian Genomics by Dr. Warren Kaplan and the Data Sciences Platform at the Garvan Institute of Medical Research.

It works by bringing together genomic information and clinical data. It includes capability to explore genomic characteristics at a cohort-level, query specific genes or variants of interest across a group of research participants, and identify variants in patient subgroups according to particular clinical features.

Dr. Kaplan said that the driver behind Variant Atlas was to find an innovative solution for medical researchers to more quickly and easily explore complex genomic data.

Genomic data can be challenging to work with, yet accessibility of data is so critically important to resolving undiagnosed cases, fostering research collaborations and for making those all-important breakthroughs.”

“Variant Atlas visualises data across the whole human genome, allowing researchers to securely scan millions of data points, and instantly home in on different regions, genes or DNA mutations of interest.”

In this staged release, aggregated* genomic data from four of Australian Genomics’ rare disease flagships are available for querying: mitochondrial disorders, acute care genomics (which is a heterogeneous group of conditions), epileptic encephalopathies and brain malformations.

Dr. Marie-Jo Brion (QIMR Berghofer Medical Research Institute and Australian Genomics) is the Manager of Australian Genomics’ Data Federation and Analysis Program and is leading the roll-out of Variant Atlas.

Dr. Brion said the roll-out is really significant for the Program and what has been a project enabled by expertise from across a number of disciplines.

Really importantly too, is that all of this has been made possible because of the patients, families, and clinical Flagship teams, who agreed to participate in and contribute to Australian Genomics.”

“We anticipate making more data available from other rare disease and cancer cohorts towards the end of 2020 and we are excited to see this new platform evolve over time, as a valuable resource for medical researchers and for our Australian Genomics Flagship teams.”

To access the Variant Atlas data, please complete the Registration Form via this link.

Under this release, only aggregated data will be available for querying. The linked clinical data section of the platform is under restricted access for the individual clinical Flagships.

*Aggregated data means genomic information in a group of individuals is combined and presented as anonymised, summary data or visualisations across groups of people, so that the information on each contributing individual is not visible. This provides important information for medical researchers, such as the overall genomic characteristics of different patient groups or how common different DNA mutations are in particular groups. 

Find out more about the features of Variant Atlas in this product summary.