Resources: Videos
NIPT
Moving from Non-Invasive Prenatal Screening to Prenatal Diagnostics
Non-invasive prenatal testing (NIPT) continues to expand globally to support maternal-fetal patient care. With a growing number of available assays and more labs offering testing, it is essential to have consistency in reporting and the ability to compare results and validate current or new methods.
ctDNA
The Promise of Liquid Biopsy Application to Cancer Disease Diagnostics and Therapeutic Monitoring – Are we there yet?”
Circulating cell free DNA as a surrogate sample type for effective diagnostics has remained an area of significant interest.
NGS
Webinar: Diagnostic Challenges in Cancer Immunotherapy Webinar
Webinar: Cancer immunotherapy is an exciting new advance for the successful treatment of many forms of metastatic cancer. However, only a minority of patients with terminal cancer have durable response with approved immuno-oncology treatments.
NGS QC
Designing Next-Generation Sequencing Controls and Standards for Optimal Quality and Performance
Workshop Video: Listen in as Chief Scientific Officer, Russell Garlick and our esteemed panel from the AMP 2019 workshop as they tackle the technical and regulatory considerations for designing next-generation sequencing controls and standards for optimal quality and performance.
TMB
New Tools and Strategies for High Quality TMB Analysis by NGS
Workshop Video: Three scientific experts present tools and strategies for TMB analysis through the characterization of tumor-normal cell line pairs for TMB standardization using genomic DNA and FFPE DNA,Q2 solutions EA solutions, and blood tumor mutational burden (bTMB) standards
NIPT
Development of SNP Matched NIPT Reference Materials for Validation, Proficiency Testing and Quality Control
Plasma-based non-invasive prenatal testing (NIPT) by Next Generation Sequencing (NGS) is being adopted into clinical laboratories. However, obtaining sufficient amounts of patient-derived reference materials for proficiency testing, assay validations, and daily QC remains difficult if not impossible to obtain. Using consistent, high quality and patient-derived reference materials can help with all of these tasks.
RNA Fusion
Consistent Performance of Highly Multiplexed RNA Fusion Reference Materials Across Different NGS Assays in a Multi-Lab Study
Fusion detection is an important part of cancer disease management, and there is an increasing need for highly multiplexed reference materials to cover mutations which may be rare or difficult to obtain.
ctDNA
Multi-Center Evaluation of Circulating Tumor DNA Assays
Measurements of circulating tumor DNA (ctDNA) hold great potential to detect residual disease and monitor therapeutic response and tumor evolution. However, there are many technical challenges including trace levels of circulating cell free DNA, short DNA fragment sizes, low variant allelic fractions, and the need to detect all variant types.
TMB
Optimizing TMB Use in Cancer Research and Care: The Friends of Cancer Research TMB Harmonization Effort
Harmonization of methods to quantify TMB will facilitate robust biomarker development and optimize clinical utilization and treatment decision-making. Friends aims to better understand the impact of assay variation on clinical outcomes, align standards, and define best practices for TMB assessment.
TMB
Target the Tumor Mutational Burden and Pursue Harmonization
Friends aims to better understand the impact of assay variation on clinical outcomes, align standards, and define best practices for TMB assessment. Listen as Dr. Mark Stewart discusses the role of the tumor mutational burden (TMB) in cancer research and the need for harmonization throughout the process.
EGFR
Enabling Standardised Testing of Liquid Biopsy Assays Detecting EGFR Mutations Using Bespoke Reference Materials
Frequently, patients with non-small cell lung cancer (NSCLC) have limited (if any) tissue available to perform EGFR mutation testing. This can be overcome by testing plasma samples for the presence of mutations in circulating tumor DNA (ctDNA).
ctDNA
New Technology to Generate Commutable and Comprehensive ctDNA Reference Materials for NGS
The need for commutable and comprehensive ctDNA reference materials is evident from the increasing number of liquid biopsy diagnostics and comprehensive panels on the market that are accompanied by reports of discordant results.
cfDNA
Analytical Validation of Oncomine Breast cfDNA Assay v2
MolecularMD performed analytical validation studies for the detection of hotspot mutations and copy number variation using commercially available cfDNA controls, full-length and fragmented cell line DNA dilutions, plasma-derived cfDNA samples and FFPE DNA samples.
FFPE
Optimization Studies for the Development of Highly Multiplexed Reference Materials in FFPE Format for Solid Tumor Profiling
Sourcing individual FFPE samples (remnant patient specimens or cell line derived) for each of the somatic mutations of interest can be expensive and time-consuming.
ctDNA
Use of Amplified and Synthetic ctDNA to Assess Variant Calls from Targeted NGS Panels
The detection of somatic mutations in circulating cell-free DNA(ccfDNA) from plasma samples using next-generation sequencing (NGS) panels is one of the most exciting developments in oncology diagnostics. However...
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.
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.