News Release

OGI's investment in cytognomix contributes to the Shannon Human Splicing Pipeline's success

Business Announcement

Ontario Genomics Institute

TORONTO, ON, April 29, 2013 - Ontario Genomics Institute (OGI) congratulates Cytognomix on the success of the Shannon Human Splicing Pipeline, which was recently purchased by the National Cancer Institute (NCI) in the U.S. In 2009, OGI invested in Cytognomix through its Pre-commercialization Business Development Fund (PBDF).

Understanding the wealth of data generated by next-generation sequencing is essential to determining which mutations are clinically significant. Cytognomix's Shannon pipeline assesses the millions of variants of unknown significance detected in cancer genetic testing by predicting mRNA splicing abnormalities. This technology improves accuracy and ease of data interpretation, saving time and reducing mistakes.

Investigators at NCI are using the Shannon pipeline to evaluate somatic and germline variants observed in tumor genome next generation sequences for their potential effects on splicing. According to Dr. Mike Nickerson, Cancer and Inflammation Program, NCI, the analytic tool is being applied to evaluate a variety of variants which can be difficult to interpret in terms of their effects on protein function. Analysis of variants for potential effects on splicing provides a tool to distinguish deleterious mutations from passenger variants and generates hypotheses that can be experimentally evaluated using PCR of reverse-transcribed tumor RNA.

"Cytognomix's Shannon pipeline is resolving significant data interpretation issues in cancer research," said Mark Poznansky, CEO, OGI. "It is rewarding to see the companies we invest in succeed and grow. OGI's investment provided Cytognomix with early stage funding, which allowed them to take important next steps toward bringing their products to market."

According to Peter Rogan, CEO of Cytognomix, "Interpreting gene variants of unknown clinical significance is one of the most important challenges in human genomics. While much effort has been focused on gathering existing knowledge about published variants in databases, our Shannon pipeline discovers previously unrecognized functions of non-coding variants. Cytognomix's mutation analysis software products have been validated in numerous peer-reviewed journal publications. We are pleased that the NCI has chosen the Shannon mRNA splicing mutation pipeline to accelerate their understanding of various forms of cancer."

OGI's PBDF program has invested in opportunities — based in genomics, proteomics or associated technologies — that fall in the proof-of-principle (validation) phase of research and that have the short-term potential to secure a significant next step towards the marketplace. Previous recipients have included Ontario universities, research institutes and companies.


About OGI

The Ontario Genomics Institute (OGI) is a private, not-for-profit corporation focused on driving the life sciences industry in Ontario through the use of genomics to increase the quality of life of all Ontarians through better health outcomes, a healthier environment and sustainable agriculture. OGI's portfolio contains nearly 100 genomics research projects and companies, with total research investment exceeding $800 million and attracting more than $40 million in venture capital. This work is enabled through relationships with Genome Canada, the Government of Ontario through the Ministry of Research and Innovation, and the Ministry of Economic Development, Trade and Employment, and other private and public sector partners. For more information, please visit

About Cytognomix

Since 2009, Cytognomix has been developing and marketing software-based solutions and reagents for clinical genomics from London, Ontario, Canada. Our intellectual property portfolio emphasizes clinical and research diagnostic applications. Products include software for mutation analysis, DNA probe reagents, and companion software to detect chromosome abnormalities. Our Shannon pipeline line of software products is unique in the industry in its ability to accurately predict functionally-significant, non-coding variants in complete genome or exome sequences. Genome-wide DNA probe sets have been designed using our patented abinitio_probesTM. Beginning with sales of scFISH probes, we have since designed and produced genomic microarrays and manufactured solution capture arrays for targeted sequence enrichment. All of our products are described in highly cited, peer reviewed publications. Contact us at for more details.

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