Canada’s new one-stop shop for genomics research

Major advances in genomics and informatics over the past several years have resulted in individual research projects producing enormous amounts of data. In particular, genomic data from large population and clinical cohorts, coupled with extensive health and lifestyle data, have the potential to generate critical biological insights into human health and novel determinants of disease. These technological developments have emerged as a new challenge for researchers because advances in genomics will be made (or limited) by bioinformatics analytical capacity and the ability to store and analyze data in new and more sophisticated ways.

The Canadian Data Integration Centre was established to help translate the biological research insights into tangible improvements for patients with cancer and chronic disease. Genome Canada recently renewed its commitment to the Canadian Data Integration Centre (CDIC), with a $6.4 million investment to establish a Genome Canada’s Genome Technology Platforms. Housed at the Ontario Institute for Cancer Research (OICR), the CDIC offers opportunities for cutting-edge pan-disease health research and big data analytical approaches.

As Canada’s first public site to offer third generation bioinformatics and genomics tools to support both functional and clinical genomics, the CDIC has emerged as a tried-and-tested solution for challenges faced in the application and management of advanced sequencing technologies, pathology and biospecimen handling, genomics, and data integration. This is evidenced by the platform supporting large-scale health and research initiatives such as the International Cancer Genome Consortium and Canada’s largest population cohort and precision health program, the Canadian Partnership for Tomorrow Project.

The CDIC is led by Dr. Philip Awadalla (Director of the CDIC and CPTP), and co-investigators Lincoln Stein, Jared Simpson, Vincent Ferretti and John Bartlett, bringing together a team of international experts on the collection, harmonization and publication of genomic and phenomic data. Together, they are able to provide the full breadth of support for projects ranging from the initial design, collection and analysis of complex data, through to the development of integrated data portals to facilitate data sharing and the translation of research findings into tangible health outcomes. The CDIC provides client-oriented access services that are customizable to diverse research areas, such as genomics, epigenetics and population level studies, in addition to supporting biopharmaceutical initiatives in biomarkers discovery, drug development and repurposing. Having supported some of the world’s largest programs in data analysis and hosting, including the NCI Cancer Genomic Data Commons and the Pan-Cancer Analysis of Whole Genomes Consortium, the platform has been established as an international leader in genomics, informatics, and translational research.

To date, the CDIC has attracted more than $87 million in grants and generated $14 million in service revenue through providing bespoke support for local and international projects. This has culminated in numerous high-impact publications in Nature, Science and Nature family journals, including a recent study featured in Nature Communications, and highlighted in the Globe and Mail, showing that environmental exposures are more determinant of respiratory health outcomes than inherited genetics.

The investment through Ontario Genomics will support the expansion of the CDIC’s services to include the genomic infrastructure supported by OICRs Genome Technologies and Diagnostics teams. The informatics and bio-computing core at the CDIC is currently the largest academic cancer informatics program in Canada, offering real-time, long-read PromethION direct sequencing technology, Chromium 10X single cell library preparation and is proudly home to the first operational NovaSeq in Ontario. This allows the CDIC to equip researchers and industry clients alike with state-of-the-art software and analytical tools to interrogate the underlying causes of complex diseases. As CDIC researchers help to facilitate a new era of Canadian-led genomics and informatics research projects, they will develop novel technologies and methodologies for long-read sequencing, facilitate the development and clinical roll-out of therapeutic biomarkers and streamline the translation of research innovations to the clinical context. With this renewed commitment from Genome Canada, the CDIC looks forward to supporting national and international efforts to better combat cancer, chronic and infectious disease.

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