Overview
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Explore genomic advances in hereditary cancer risk assessment through this 36-minute webinar presented by Dr. Jennie Dring and Dr. Sevana Yaghoubian. Learn about comprehensive variant detection methods, streamlined genomic workflows, and alignment with evolving clinical guidelines in the rapidly advancing field of hereditary cancer testing. Discover how the UK's NHS Genomic Laboratory Hub network delivers testing across a broad range of clinical indications under the National Genomic Test Directory. Examine the West Midlands Genomic Laboratory's experience implementing next-generation sequencing (NGS) solutions for hereditary cancer testing, including their transition to the SOPHiA DDM™ Platform. Understand how this transition improved turnaround times, reduced hands-on laboratory work, and enhanced variant detection capabilities. Follow a detailed walkthrough of the SOPHiA DDM™ analysis workflow, covering each critical stage from initial quality control procedures through the identification of challenging genetic variants. Gain insights into the new generation of the SOPHiA DDM™ platform and preview future laboratory plans for continued innovation in genomic testing workflows.
Syllabus
Genomic advances in hereditary cancer: Optimizing variant detection and interpretation workflows
Taught by
Labroots