SRS
Interlaboratory Assessment of Complex Variant Detection
In this study, an international group of collaborating laboratories explored the creation of a synthetic reference sample (SRS) in which multiple technically challenging variants are introduced into a known human genomic background. This single SRS with 23 variants was evaluated using 10 NGS workflows.
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).
ccfDNA
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%.
cfDNA
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.
ctDNA
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.
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...
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.
NIPT
Highly Stable and Commutable NIPT Reference Materials for Validation, Proficiency Testing and Quality Control
Plasma-based DNA next-generation sequencing (NGS) diagnostics for non-invasive prenatal testing (NIPT) has exploded in popularity in recent years. However...
HCV RNA
Technology to Produce Non-Infectious Recombinant Virus as Reference Materials for Unculturable or Highly Dangerous Viral Pathogens
Diagnostic laboratories and test developers need to design, manufacture, and validate assays for pathogenic viruses and this requires stable, reproducibly manufactured positive reference materials.
NGS
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.
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.
ctDNA
Evaluation of Customizable Circulating Tumor DNA (ctDNA) Reference Materials with Multiple Assays
The utility of circulating cell-free DNA (ccfDNA) has led to the development of an ever-increasing number of ctDNA assays that also make use of fundamentally different analytic methods.
ctDNA
Application of the Highly Sensitive SiMSen-Seq Assay and Seraseq®-Designed Reference Materials to Minimal Residual Disease Detection
The reliable detection of minimal residual disease (MRD) becomes possible as ctDNA assays become more sensitive. Sensitive assays require matched reference materials.
ctDNA
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.
NGS
Flexible Tools For The Development And Performance Verification Of Customized Target Enrichment Panels
Implementation of next-generation sequencing for variant identification and discovery presents difficulties both in the selection of genomic loci for inclusion in a panel, as well as the ability
ctDNA
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.
ccfDNA
Donor-Derived Circulating Cell-Free DNA (ccfDNA) Reference Materials for Concordance Studies
The limited quantities of ccfDNA in plasma and the limited amount of ccfDNA that can therefore be obtained from a single donor can make it difficult to assess the sensitivities and specificities of
RNA Fusion
Use of Highly Multiplexed Reference Materials to Facilitate Validation of a Clinical NGS Tumor Fusion RNA Assay
NGS Tumor Fusion RNA Assay Next-generation sequencing (NGS) assays for detection of tumor RNA fusions must undergo rigorous validation before clinical implementation.
VariantFlex
Custom VariantFlex Technology Allows Rapid Design and Testing of Reference Materials for Tumor Genotyping Assays
Development and validation of tumor genotyping assays requires highly characterized reference materials for effective assessment of accuracy, precision,
CNVs
Development of Well Characterized Breast, Lung, and Brain Cancer Copy Number Variation Reference Materials
Copy number variation (CNV) can be a key driver of oncogenesis. Pathogenic CNVs are often associated with unfavorable prognosis and drug resistance.
NGS Validation
Reliable Interpretation of NGS Data Using 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.
Liquid Biopsy
An Efficient and Ultrasensitive NGS Solution for Profiling ctDNA
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.
ccfDNA
Circulating Cell Free DNA Isolated and Amplified from the Plasma of Pancreatic Cancer Patients as Reference Material for ctDNA Assays
The validation and evaluation of circulating tumor DNA (ctDNA) assays poses analytical challenges because the amount of circulating cell-free DNA (ccfDNA) that can be obtained
ctDNA
Patient-Like Circulating Tumor DNA Reference Materials for Evaluation of Next-Generation Sequencing Tests
Clinical oncologists are relying on analysis of circulating tumor DNA (ctDNA) across an increasing number of applications.
Zika
AccuSpan™ Zika Linearity Panel Spans the Dynamic Range of Assays and Allows Evaluation of Analytical Sensitivity
In response to the Zika virus outbreak, several PCR-based assays have been developed and approved under the Emergency Use Authorization (EUA).
NGS
Multiplexed Next-Generation Sequencing Reference Materials for Testing of Inherited Disorders
Next-generation sequencing (NGS) has rapidly advanced the genetic testing for inherited disorders.
ctDNA
A Commutable Circulating Tumor DNA (ctDNA) Reference Material
Commutability is an important aspect of reference materials and relates to how well the materials can mimic the natural analyte.
NGS
Development of Highly Multiplexed Reference Materials for Inherited Cancer Testing
Next Generation sequencing (NGS) has improved the diagonistic yield of genetic testing, but has presented new challenges for test development, validation and quality control management.