This session will go through the various steps of this basic use function in an overview fashion to cover all the things the user can do.
We will cover how to detect and analyze uniparental disomy (UPD) events from either SNP arrays or NGS data using the newest UPD tool available in NxClinical.
1) Set up sample relationships
2) Run the UPD tool (both iso & heterodisomy)
3) Review new annotations in the variant details tab
4) Discuss new options in the variant filter settings property for UPD events.
At the end of this session, the attendee will have a good understanding of all the capabilities relating to the NxClinical UPD tool.