This 14-minute session, hosted by Sam Dougaparsad, Customer Success Manager, will focus on inheritance analysis and will cover the parent of origin column for SNP arrays as well as how to use inheritance pattern filtering in both CNV and NGS data.
This session is intended to give a “typical” end-to-end case review process for CNV/AOH/Seq Var data. One example shows a combination of array and NGS where there is only pathogenic Seq var data as well as a potential combination of Seq Var and CNV/AOH.
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.