Tutorials

Topic: Molecular

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: 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: Building and using Gene & Region Panels in NxClinical (10 mins)

This 10-minute session with Sam Dougaparsad, Customer Success Manager, will review different panel functions for both admins and users. These functions include but are not limited to: creating, loading, modifying, validating, and how to update and save a default analysis workflow.

Tutorial: NxClinical 6.0 Homepage Overview (18 mins)

This session 18-minute session, hosted by Piran Shelley, Customer Success Manager, is a basic introduction to the NxClinical system with the main focus on the home tab and its layout. It will cover the various query limits that can be set from the filter drop-down lists (e.g. Sample Types, Phenotypes, etc.) as well as how to query for samples based on name, attributes, processing dates, etc.

Tutorial: Delving into the genes track - transcript selection, linking out to your favorite databases. (10 mins)

This tutorial should review the source for genes in this track, source for transcripts, bold/canonical indicators in the UI for transcript selection and how to select a different transcript. Users should also be shown that they can link out to external db via right click and how to change the options to their favorite dbs. This tutorial can also show users how to change the transcript source to use transcripts from HGMD, for example.

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.