Tutorials

Topic: Constitutional Autism Research

Tutorial: Inheritance analysis using array or NGS data (30 mins)

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.

Tutorial: Constitutional singleton case review - Combined Cyto and Molecular analysis using NGS and array data (from raw data to final report) (17 mins)

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.

Tutorial:Utilizing HPO terms to generate SAP scores to prioritize variants and improve case review efficiency (17 mins)

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.

Tutorial: Dealing with mosaicism (detection and measurement options and functionality) (9 mins)

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.

Tutorial: Overview of Admin Functions (10 mins)

This session will go through the various areas of the Admin tab in an overview fashion to cover all the things the admin can do. For example, will show the Users tab and explains how to create, assign privileges, and inactivate users.