Defensive NGS informatics – what can go wrong and how do you know when to throw in the towel? – John Pearson


Next ‐ generation sequencing has radically changed medical research by allowing deep interrogation of the DNA and RNA of pathogenic organisms, families with inherited disorders and the de ‐ novo mutations responsible for tumourigenesis. As with any new technology, a “gold rush” mentality can arise where being first to the answer can push rigour and methodological soundness into the background. In this seminar, I’ll talk from QCMG experience about some of the ways sequencing can go wrong, how the problems became apparent, what we did about them, and tools we developed to try to catch the same problems in future.

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