A major challenge in the era of precision medicine is to ensure quick and reliable identification of potentially disease-causing genetic variants with a streamlined workflow.
This webinar will focus on how SOPHiA overcomes these challenges by enabling experts to deal with the vast amounts of genetic data coming from both targeted and exome applications, and how to accurately detect the variants of interest. You will have the opportunity to discover how our platform offers advanced analytical performance in calling challenging variants like large Indels, CNVs, Alu insertions, and Boland inversions. Additionally, you will learn how SOPHiA manages difficult research contexts such as pseudogenes or homopolymeric regions.
This session is a must-see for laboratories using Next-Generation Sequencing for hereditary disorders, willing to implement an efficient and reliable secondary analysis solution in their routine workflow.
Research Use Only (RUO), Not for Use in Diagnostic Procedures
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5:00pm (CET) / 11am (EST) : Advanced germline variant analysis with the SOPHiA Platform
5:50pm (CET) / 11:50am (EST) : Q&A
6:00pm (CET) / 12:00pm (EST) : Closing