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MPCCC Tech Talks engage clinical and research communities with technological innovations in cancer medicine, and are a platform for enhancing research capabilities, encouraging multi-disciplinary interaction, and facilitating a collaborative approach.

Somatic variant calling in whole genome sequencing, opportunities, challenges and solutions

Whole genome sequencing (WGS) of tumour tissue opens up many opportunities for deeper understanding of cancer cell biology, including the detection of complex structural rearrangements, driver mutations, somatic mutation signatures, and subclonal clustering and reconstruction of cancer evolution.

Accurate somatic variant calling remains a challenging bioinformatics task due to many factors including sample quality and purity, depth of coverage, and processing artefacts. Consequently, state of the art variant calling tools frequently disagree on their results.

In this talk, Dr Bernie Pope will discuss the challenges encountered and lessons learnt from a large international prostate cancer study consisting of more than one thousand tumour samples. As a response to some of these challenges, he will also discuss our new software tool called Varlap, that has proven useful in quality control and identification of problematic variant calls.


About the speaker: Associate Professor Bernie Pope

Bernard Pope is a Victorian Health and Medical Research Fellow at Melbourne Bioinformatics within The University of Melbourne. His research focuses on applying computational techniques to biological questions, especially relating to human genomics and cancer.

After completing a computer science PhD in programming languages, Bernard undertook an internship at Microsoft Research in Cambridge UK, before returning to a lecturing position at The University of Melbourne. In 2010 he joined the newly-formed VLSCI (now Melbourne Bioinformatics), a $100M project to build a world-leading centre for bioinformatics and computational biology.

Since then, Bernard has collaborated on a number of research projects in breast, colorectal and prostate cancer, with an emphasis on genomic factors underlying disease risk and progression. Following his training as a computer scientist, Bernard is particularly interested in addressing algorithmic and computational challenges associated with biomedical research.


Event details

1-2pm, Friday 20 November 2020

This event will be held online via Zoom. Zoom joining details are:

Zoom link: https://monash.zoom.us/j/87698145190?pwd=cVRFUTVEK3c1TTQ2N0oyY3R3Tmp4dz09

Meeting ID: 876 9814 5190
Password: 140660

Register for webinar >>


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