The genetic blueprint of an individual has never been more accessible due to the recent availability of advanced and inexpensive DNA sequencing technology.
The study of genomics is of immense value in studying human ancestry, genetic diseases, and biological systems. It also provides a powerful new tool in clinical work, allowing medical diagnosis, treatment, and risk assessment based on an individual’s genetic make-up.
Unfortunately its impact on everyday clinical medicine has been modest to date because existing genomic tools are exclusively focused on the research community and difficult to use, and because working with large-scale genomic data is challenging.
Enter the Genetics and Genomics Analysis Platform: GenAP. Funded by CANARIE, this platform is not only furthering the advanced analysis of genomic data but also making this data much more accessible to biologists and physicians.
A full set of one person’s DNA data requires a stack of 50 DVDs while a large study with 1,000 patients can be hundreds of terabytes of data. This makes it impractical to transfer genomic data using traditional methods, challenging to store it, and virtually impossible to use it without advanced research and education networks like CANARIE, sophisticated software tools, and high performance computing facilities.
GenAP transparently pulls together hundreds of genomic software components and high performance computing systems into a single research tool with the requisite storage capacity and processing power. This distributed system keeps patient medical information behind a firewall using stringent privacy and access considerations while allowing widespread access to public genome datasets.
The GenAP platform allows both researchers and clinicians alike to search and share genomic data more easily, helping speed breakthroughs in research and treatment.
Discoveries in genomics will one day enable family doctors to routinely find rare genetic mutations and prescribe drugs specifically designed to correct them. Families afflicted by these rare disorders will be the first beneficiaries of these tools but everyone else will ultimately benefit, too. As it turns out, conditions that affect many of us – such as asthma, certain cancers, heart disease, and diabetes – may also be the effect of existing or new genetic variants in one’s genome.
The GenAP platform is available through the CANARIE software registry (science.canarie.ca). The registry provides a range of free software platforms and reusable software components to researchers. CANARIE’s goal in creating this registry is to provide researchers with a robust set of reusable software tools to accelerate discovery across a range of research domains.
For more information please contact our contributor(s):