By: Kyster Nanan

Group photo of all the attendees and presenters at the event
Group photo of all the attendees and presenters at the event
Group photo of all the attendees and presenters at the event

Led by instructors Bernard Lam (Associate Director, Translational Genomics Laboratory, OICR), Lawrence Heisler (Senior Manager, Genome Sequence Informatics, OICR) and Iain Bancarz (Scientific Associate, OICR), the workshop offered in-depth explorations of next-generation sequencing (NGS) technologies, focusing on their application in molecular diagnostics. The curriculum covered the chemistries and workflows for sequencing by synthesis (e.g. Illumina), semiconductor sequencing (e.g. Ion Torrent) and nanopore sequencing (e.g. Oxford Nanopore Technologies) platforms. The workshop also discussed the strengths and limitations of each of these technologies, particularly in the context of analyzing formalin-fixed, paraffin-embedded (FFPE) tissue. Hands-on computational exercises included assessing data quality using tools like FastQC, visualizing variant calls in IGV and interpreting sequencing data for clinical reporting. A lab tour, facilitated by Sarah Barker and her team, provided attendees with insights into sample workflows, library preparation and instrument operation. 

According to feedback, participants lauded the expert-led sessions and practical content, highlighting the workshop’s impact on their ability to interpret and apply molecular results. Topics like sequencing error analysis, quality control and cancer genomics interpretation were particularly appreciated. 

To support continued learning, all video recordings, lecture slides, bioinformatics exercises and data sets from the workshop are freely available online. These resources are open source and available under a Creative Commons license, allowing others to freely use, adapt and build upon the content. We encourage educators and researchers to leverage these materials to further expand bioinformatics education and training. Anyone interested in exploring these resources can access them here: OMPRN 2024 Workshop Materials. 

OMPRN and CBW are keen on advancing bioinformatics education and supporting the molecular pathology community. This workshop marks a significant step towards addressing gaps in molecular pathology education and future events will build on this success. Special thanks go to the instructors, facilitators and Nia Hughes, the CBW Program Manager. Stay tuned to the OMPRN and CBW mailing lists for announcements on upcoming training opportunities in bioinformatics and other topics. 

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