This session will give a brief overview of how the SAP score is calculated for single genes as well as CNV/AOH events that cover multiple genes and how to use it to identify the most relevant variant.
This session will cover how the whole genome view should be reviewed to detect low level mosaic events that might not have been called. We will also show how to merge mosaic events with many small calls clustered in an area and how to convert an alleleic event into a mosaic AOH.
This session will cover how the Variant Interpretation Assistance (VIA) system is designed to increase the efficiency of the case review process by pre-classifying CNV and AOH events.
This 18-min session presented by Dan Saul, Customer Success Manager, will cover the SNP-FASST2 and SNP-Rank algorithms for CNV and AOH detection. At the end of this session, the user will understand how the different parameters in the SNP-FASST2 and SNP-Rank algorithms impact the sensitivity and specificity of the CNV and AOH detection from SNP array data.
This tutorial 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.