Tutorials

Topic: Aoh

Tutorial: Modern CMA Solutions: New GDA-Cyto and GSA-Cyto SNP arrays with NxClinical (30 mins)

Learn more about this modern CMA from Illumina and its applicability for prenatal, postnatal, reproductive, and cancer genetics in this 30-minute webinar presented by Dan Saul, Customer Success Manager at BioDiscovery.

Tutorial: Combinatorial analysis of Copy Number and Sequence Variants at your fingertips (30 mins)

In this 30-minute webinar, presented by Sam Dougaparsad, learn how NxClinical seamlessly uncovers compound heterozygous aberrations from any array or NGS platform.

Tutorial: What is NxClinical and how can it help my clinical case review? (30 mins)

In under 30 minutes, learn the basics of NxClinical software, the latest features included in the 6.0 release, and its applications to your clinical case review. This tech tour webinar session was presented by Brian Lee, Customer Success Manager.

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: 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.