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Description
Aggregation, Interpretation, and Visualization of Gene Fusions in Cancer
Many cancers are defined by the presence of recurrent, subtype-defining gene fusions. While there is an abundance of informatics tools for detection of gene fusions from RNA-Seq data, these tools show little predictive overlap. Further, while annotation databases for gene fusions exist, it remains difficult to automatically annotate newly-detected gene fusions against these resources. The aim of this project is to (1) Develop methods for aggregating and comparing the results of different fusion detection tools against each other, (2) Visualizing those results in terms of fused protein domains, read evidence, and annotation status, and (3) Automatically annotating fusions for presence in selected online databases. These methods will be incorporated into a new R package and made available to the community. This project will facilitate the development of improved methods for understanding the diversity and recurrence of gene fusions, and help facilitate the clinical translation of RNA-Seq based fusion detection.
Team Lead: Rod Docking | rdocking@bcgsc.ca | @rdocking | Grad Student | BC Cancer Agency