Bioinformatics Seminars

Bioinformatics Seminar

Time:
Venue: Na

9 July 2019

Na

Finding Gene Fusions in Clinical Cancer Samples

Thomas Conway
PeterMac

Fusion genes (novel transcripts composed of parts of more than one original gene) can yield important diagnostic and prognostic information for the management of cancer. Finding clinically relevant gene fusions is a task of growing importance in clinical bioinformatics. The Molecular Pathology department at PeterMac does not currently do RNA sequencing to identify fusions ; but that is expected to shift in the near future ; so we want to have tools in place. Unfortunately ; existing tools tend to be quite expensive to run ; and in addition to the potentially valuable information about the presence or absence of clinically relevant fusions ; also yield a lot of information that is not useful to clinicians ; and which the reporting scientist must wade through. Since the Molecular Pathology Department at PeterMac reports on about 1 ;000 genomic assays/month ; it is highly desirable to have the capability to detect clinically relevant fusions in a focused and efficient way. In this seminar ; we will present some work we have done to try and achieve this goal. It is very much work-in-progress ; but sheds some light on the problem ; and the general problem of finding precise and efficient methods for bioinformatic analysis.


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