BioDiscovery Resources


View now on-demand

Watch these short NxClinical tutorials narrated by the experts at BioDiscovery and learn how to perform administrative functions or get the most out the software with in-depth sessions on how to execute basic use features.

Tutorial: Constitutional singleton case review - Cytogenetic workflow (from raw data to final report) (27 mins)

This 15-minute session, hosted by Dan Saul, Customer Success Manager, will demonstrate a “typical” end-to-end case review process for CNV/AOH data. We will start at the point where the sample is already loaded and processed in the system and walk through the review process (filtering, pre-classification, variant prioritization...) to end at the final report.

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: Increase efficiency and improve turnaround time by utilizing the Variant Interpretation Assistant system (13 mins)

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. 

Tutorial: Detecting CNV & AOH events from SNP array data (18 mins)

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.

Tutorial: Detecting CNV & AOH events from NGS data using the MSR and Self-Reference Algorithms (19 mins)

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. 

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.