Resources: Videos
Cancer
Plasma Mutation Spectrum Matches Known Tumor Mutations in Active Cancer Patients
UNC evaluated a test system that preferentially amplifies fragmented DNA to reduce impact of ex vivo release of cellular DNA, and that capitalizes on “unique molecular identifiers” and variable amplicon lengths to improve assay performance.
Validation
A Practical Guide to Clinical Genomics Assay Validation
Dr. Bob Daber, founder of Gnosity Consults, and Dr. Russell Garlick, CSO of SeraCare discuss real-world examples that illustrate how highly multiplexed, patient-like biosynthetic reference materials offer substantial time and cost advantages over traditional materials and methods.
Validation
Validate Your Clinical Genomics Assay Without Crushing Your Budget or Sanity
In this video, Drs. Greg Tsongalis and Russell Garlick will review how to employ modern NGS QC tools to accelerate the development of your clinical genomics assay for less than it costs with traditional materials and methods.
ctDNA
Case Study: Development and Validation of Clinical ctDNA Cancer Assays
Tony Godfrey of the Boston University School of Medicine will discuss how his lab is developing and validating clinical circulating tumor DNA assays.
NGS QC
Case Study: QC Systems to Comply with CAP, CLIA, & State Regulatory Guidelines
Dr. Robert Daber discusses how labs can establish laboratory QC systems to comply with CAP, CLIA, and state regulatory guidelines.
Cancer
Case Study: Development and Validation of a Cancer Hotspot Assay
Gregory J. Tsongalis of Dartmouth Hitchcock Medical Center will discuss how his lab developed and validated a cancer hotspot assay.
Case Study
Enabling Clinical Genomics with Highly Multiplexed and Patient-Like Reference Materials
Industry expert Dr. Sandi Deans, Consultant Clinical Scientist and Director of UK National External Quality Assessment Service (UK NEQAS) for Molecular Genetics presents a case study of how a global external quality assessment (EQA) organization uses expert-designed, patient-like reference materials to ensure the accuracy and consistency of a clinical genomics application.
NGS Implementation
Roundtable Discussion: Best Practices for Validation, Monitoring, and Controls
Expert panelists provide an overview of the current regulatory landscape for laboratory-developed tests. Our panelists discuss how clinical genomics labs can and should ensure the analytical and clinical validity of their tests amid an uncertain regulatory climate.
Case Study
NGS-based Assay Validation and QC: A Complete Solution for the Clinical Sequencing Lab
Francine Blumental de Abreu, PhD presents how a lab can measurably improve and simplify their validations and daily QC using powerful reference materials, while also implementing easy-to-use lab QC software to track and report all key QC metrics.
NGS Validation
Reliable Interpretation of NGS Data Using Well-Established, Highly-Multiplexed Reference Material
This video shows how Directed Genomics and New England Biolabs use highly multiplexed reference materials during optimization and validation to fine-tune assay performance.
Case Study
An Efficient and Ultrasensitive Next-Generation Sequencing Solution for Profiling Circulating Tumor DNA
Asuragen’s Associate Director of Bioinformatics explains how SeraCare’s ctDNA allows confident quantification of trace levels of ctDNA in their NGS-based assay.
RNA Fusion
Assessing Sensitivity of NGS RNA Fusion Assays Using a Multiplexed and Well-Characterized Linearity Panel
Many targeted NGS-based panels have been introduced to detect RNA fusions useful for prognosis and therapy selection in cancer.
Liquid Biopsy
Expert Perspectives on Liquid Biopsy Clinical Implementations - A Panel Discussion
Drs. Tony Godfrey, Peggy Gulley, and Greg Tsongalis will provide expert perspectives and experiences on what it takes to achieve the full clinical potential for circulating tumor DNA (ctDNA) assays.