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...
Determining and using the most effective and safest treatment is of great importance in cancer disease management. Recently, a potential biomarker has been identified in immunotherapy: tumor mutational burden (TMB), an assessment of the number of relevant mutations in a tumor.
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.
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.
Genomic cancer testing is a powerful tool for identifying the individual and often complex genomic alterations underlying carcinogenesis and cancer progression. SeraCare has developed reference material that contains 15 clinically-relevant NTRK fusions in a single reference sample.
Validation of a Novel One-Step Digital PCR Platform with Precision Circulating Cell-Free DNA Standards
EGFR (epidermal growth factor receptor) mutation testing is an important drug target for the treatment of non-small cell lung carcinoma (NSCLC). Read about the validation of a novel, fully integrated dPCR platform for the detection and absolute quantification of EGFR T790M.
CleanPlex UMI Lung Cancer Panel for Detecting Low-Frequency Variants Using Targeted Amplicon Sequencing Approach & Molecular Barcodes
Watch the video and download this free poster to see how the recovered number of UMIs is one of the keys for accurate detection of rare mutations with fewer false positives.
Two-Part Workshop Video: Two scientific experts present how they achieve the assay sensitivities required for clinical applications while preserving specificity and overall assay performance.
How Can Labs Implement a Best-In-Class, Robust, and Compliant Next-Generation Sequencing QC Program?
Two-Part Workshop Video: Two scientific thought leaders discuss applying up-to-date quality control systems and standardization to NGS oncology assays in order to meet current guidelines and regulatory compliances.
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.
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).
Use of Molecular Identifiers and Targeted NGS to Enable Variant Detection Below 1% Allele Frequencies in Circulating Cell-Free DNA
Watch the video to see how Swift BioSciences' analysis accurately and reproducibly identified known variants as low as 0.25%.
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.
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.
Development and Testing of Reference Materials for NGS based Somatic Variant Detection and Fusion Detection in Myeloid Cancers
See how the development of these reference materials aid the development, optimization, and verification of NGS-based myeloid disease testing, providing laboratories greater assurance in their ability to correctly detect these genomic events in myeloid patient samples.
In this roundtable discussion, three industry experts share practical learnings on implementing a best-in-class clinical NGS lab QC management program on time and budget.
By focusing on the impact of QC stops on reporting results, lab productivity, and reimbursement; and the use of tools such as reference materials and data management solutions, our goal with this survey was to gain greater insight into the QC habits and best practices of the clinical NGS community worldwide.
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...
NGS QC: Part 1
Welcome to our video series on how to use SeraCare's QC Solutions to get up and running faster and stay up and running longer with your clinical NGS assays. This video series will highlight how you can use SeraCare's QC management solutions to address assay validation, training, troubleshooting, QC review, and QC reporting.
NGS QC: Part 2
Welcome to our video series on how to use SeraCare's QC Solutions. This second video will focus on how to more quickly troubleshoot your NGS assays so you can get back up and running faster and proactively monitor assay performance to stay up and running longer.
NGS QC: Part 3
Welcome to our video series on how to use SeraCare's QC Solutions to get up and running faster and stay up and running longer with your clinical NGS assays. This third video will illustrate how to load, review, and generate QC reports.
A practical guide to validating a clinical NGS assay with real-world examples from leading clinical genomics experts.
This video shows how Directed Genomics and New England Biolabs use highly multiplexed reference materials during optimization and validation to fine-tune assay performance.
Multi-Laboratory Assessment of a New Reference Material for Quality Assurance of Circulating Tumor DNA Measurements
The accurate diagnosis and monitoring of cancer, using circulating tumor DNA, is a major challenge, given the low concentration and complexity of the target molecules.
Asuragen’s Associate Director of Bioinformatics explains how SeraCare’s ctDNA allows confident quantification of trace levels of ctDNA in their NGS-based assay.
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.
A Comprehensive, Targeted NGS Method that Rapidly and Accurately Detects ctDNA Variants at 0.1% Frequency in Plasma Samples
See how this targeted NGS method is able to distinguish a low-frequency ctDNA signal from background noise in plasma cell-free DNA using a streamlined PCR-based workflow.
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.
A Novel Circulating Tumor DNA Reference Material Compared on Next-Generation Sequencing to Digital PCR Assays
Watch the video and download this free poster to see how SeraCare has developed a size-selection and DNA processing method to mimic the size profile of native ctDNA.
A panel of clinical genomics experts provides an overview of the regulatory landscape for laboratory-developed tests. Panelists discuss how clinical genomics labs can and should ensure the analytical and clinical validity of their tests amid an uncertain regulatory climate.
Learn how highly multiplexed NGS reference materials can help you speed development, validate more robustly, and implement better clinical genomics assays. Find ways to streamline your lab’s processes to get your assay in production faster and keep your metrics on track.
Drs. Tony Godfrey, Peggy Gulley, and Greg Tsongalis provide expert perspectives on what it takes to achieve full clinical potential for ctDNA assays.
QC Case Study
This case study details how Navican built a best-in-class QC protocol. They discuss how and why they implemented SeraCare reference materials and iQ NGS QC Management software.
Dr. Bob Daber and Dr. Russell Garlick 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.
Gregory J. Tsongalis of Dartmouth Hitchcock Medical Center discusses how his lab developed and validated a cancer hotspot assay.
Dr. Robert Daber discusses how labs can establish laboratory QC systems to comply with CAP, CLIA, and state regulatory guidelines.
Tony Godfrey of the Boston University School of Medicine discusses how his lab is developing and validating clinical circulating tumor DNA assays.
NGS QC Metrics
Francine Blumental de Abreu, PhD presents how a lab can measurably improve and simplify their validations and daily QC using powerful reference materials and lab QC software to track and report all key QC metrics.
Dr. Sandi Deans, Director of UK NEQAS for Molecular Genetics, presents a case study of how a global EQA organization ensures the accuracy and consistency of a clinical genomics application.
A protocol, developed in partnership with Thermo Fisher Scientific, that ensures a thorough and accurate assessment of your Ion Torrent Oncomine Myeloid Research Assay using the Seraseq Myeloid Reference Materials (RNA and DNA).
This report by clinical genomics experts focuses on the validation and implementation of clinical NGS assays. Find case studies as well as an overview of validation processes for laboratory-developed clinical genomics tests and specific validation guidelines.
This guide contains best practices to help you develop an NGS-based clinical genomics assay and bring it online as quickly and cost-effectively as possible. Overcome the top three assay development challenges faced by clinical laboratories.