Dr Warren Kaplan
18 August 2020
Medical researchers from across the globe will gain new insight into some of the most devastating inherited conditions, thanks to anonymised genomic and clinical summary data made available by Australian Genomics today. The data is housed on the Variant Atlas platform, which was developed for Australian Genomics by researchers at the Garvan Institute of Medical Research.
The platform connects the genomic and clinical data of research participants from four Australian rare disease clinical studies, including studies of mitochondrial disorders, epileptic encephalopathies (a group of severe brain disorders) and brain malformations.
It is hoped this crucial genomic information, provided to medical researchers, will underpin new discoveries that enable better treatments for a range of conditions.
“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,” says Dr Warren Kaplan, Chief of Informatics at the Kinghorn Centre for Clinical Genomics at Garvan. His team manages the processing and integration of genomic and clinical data into the platform.
Connecting genomic and clinical data
The Variant Atlas is a controlled-access platform designed to support the analysis of Australian Genomics research cohorts. Researchers are able to explore genomic information at a cohort-level, search for specific genes or variants of interest across a group of research participants, and identify variants in patient subgroups according to particular clinical features.
This data release makes genomic data from four of Australian Genomics’ rare disease flagships available: mitochondrial disorders, acute care genomics, epileptic encephalopathies and brain malformations. Further cohorts will be added to the platform later in the year.
The data is anonymised and displayed in aggregate form, so that the information on each contributing individual is not displayed. Data such as the overall genomic characteristics of different patient groups or how common different DNA variations are in particular groups provides important information for medical researchers.
Access driving innovation
Dr Kaplan said that the driver behind the Variant Atlas was to find an innovative solution for medical researchers to more quickly and easily explore complex genomic data.
“Variant Atlas visualises data across the whole human genome, allowing researchers to securely scan millions of data points, and instantly hone in on different regions, genes or DNA mutations of interest,” he says.
“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,” says Dr Marie-Jo Brion (QIMR Berghofer, Australian Genomics), who is the Manager of Australian Genomics’ Data Federation and Analysis Program.
“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.”
Researchers and clinicians who wish to access the Variant Atlas data are referred to instructions provided by Australian Genomics.