Variant Atlas is a controlled-access, web-based platform for exploring and discovering a group of research participant’s genomic and phenotypic data. The platform was designed and developed by Dr. Warren Kaplan and the Data Sciences Platform group at the Garvan Institute of Medical Research.
Variant Atlas has been developed to house genome cohorts of any size and tailored to the needs of clinicians, scientists and bioinformaticians.
It includes capability to:
- explore genomic characteristics at the cohort-level
- query specific genes or variants of interest across a group of research participants
- identify variants in patient subgroups according to particular clinical features
It has been customised for Australian Genomics to enable the storage, querying, filtering and analyses of genomic data from our diverse research cohorts.
How do I access genomic data in Variant Atlas?
Aggregated genomic data from our Mitochondrial diseases, Acute Care, Brain Malformations, and Epileptic Encephalopathies flagships are now available in Variant Atlas for analysis. Additional rare disease and cancer datasets from our flagships will continue to be added to the platform.
To access the Variant Atlas aggregated data, please complete the Variant Atlas Registration Form via this link.
Please note, authorised users will have access to run aggregated data queries across cohorts to examine allele frequencies and cohort-level genomic characteristics. However the linked clinical data component of the platform is not accessible.
For general access enquiries please contact firstname.lastname@example.org
More on Variant Atlas
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.
Find out more about the features of Variant Atlas in this product summary.
An instruction video on how to use Variant Atlas is available here: Demo Video