Tutorials

Topic: Copy Number

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Tutorial: UPD Detection from SNP arrays or NGS data (10 mins)

This 10-minute tutorial session 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.

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: Making your oncology case review process more efficient through an institutional knowledgebase integrated with NxClinical 6.0 (25 mins)

During this 25-minute webinar, Soheil Shams, Founder & CEO of BioDiscovery, will utilize a number of example oncology cases to highlight the most effective workflow and case review benefits of this new feature in NxClinical 6.0.

Tutorial: Copy Number analysis by NGS: Urban legend or true reality? (30 mins)

In this 30 minute session, Sam Dougaparsad, Customer Success Manager, will discuss the current market approaches and strategies to Copy Number analysis in NGS which include a crowded field of algorithmic pipelines for CNV analysis.

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: Cancer predisposition review (combined CNV and Seq var analysis) (25 mins)

This session will demonstrate how to review a cancer predisposition panel using a decision tree to mark events and how to perform a combined CNV and Seq Var analysis.

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: 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.