This session will cover both the Self-Reference Algorithm as well as the MSR (multiscale reference) method.
We will cover the basic ideas behind the approaches and dive into the reference builder, its parameters, how to use it and how to load the reference into NxClinical. We will also cover how to set parameters for panels, WES, and WGS data and gender matching. Quality measures (e.g. capture bias, various read counts) will also be discussed.
At the end of this session, the user will have a good idea on when to use each algorithm and the pros and cons of each, how to create reference files and process samples in NxClinical using these methods to get CNV and AOH data.