NGS in Molecular Pathology: Tackling the Interpretation Challenge in a High-throughput Diagnostic Setting
This webinar provides specific use cases from a molecular pathology lab demonstrating how an automated bioinformatics pipeline can improve somatic variant assessment and reporting.
Next-generation sequencing of tumor samples is becoming increasingly common in the molecular pathology setting, but the adoption of this technology brings challenges in data management and clinical interpretation, and requires bioinformatics tools to analyze, interpret, and database the large number of variants originating from NGS assays. In a high-throughput context, the delivery of actionable results from NGS data needs to be clinically robust (informed, traceable and reproducible). Moreover, in a cancer diagnostics setting, fast turnaround times are essential for patient care.
In this online seminar, Matthew J. McGinniss, Executive Director of Clinical Genomics at cancer diagnostics firm Genoptix, shares how his team validated an automated pipeline for somatic variant assessment and reporting in a high-throughput diagnostic setting. This pipeline supports the interpretation of genomic alterations including copy number variants and translocations and allows clinical molecular geneticists and molecular pathologists to provide quality clinical laboratory services to oncologists, pathologists, and clinicians. To conclude, Dr. McGinniss shares some clinical use cases demonstrating the variant assessment pipeline.