Tutorials

Topic: Sequence Variants

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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: 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.