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Baltimore, MD, November 5, 2019 – AccuGenomics Inc., a Wilmington, NC developer of powerful control technology that dramatically improves the accuracy and performance of clinical sequencing tests presented interim data on the performance of their spike-in controls to the AMP Reference Materials Forum as part of the Association of Molecular Pathology Annual Meeting. The data were from the FDA-led SEQC2 study examining the impact of wet lab and bioinformatic parameters on the detection accuracy of clinical NGS Assays.
Data presented by Tom Morrison, Ph.D., Chief Scientific Officer and James Willey, MD, Co-founder and George Isaac Professor for Cancer Research & Professor of Medicine in Pulmonary and Critical Care Medicine at the University of Toledo Medical Center located on the University of Toledo Health Science Campus demonstrated the ability of SNAQ-SEQ spike-in controls to improve the reliability of NGS testing for actionable mutations in diagnostic samples.
Key interim results of the liquid biopsy working group were the determination that unique molecular indices (UMIs) were insufficient on their own to eliminate false positives and that the use of SNAQ-SEQ spike in controls could help identify and fix problems with the TST170 pipeline and the elimination of false positive calls occurring below 0.5% VAF. Presentations can be viewed here.
“The use of SNAQ-SEQ spike-in standards help to control for stochastic and technical errors in NGS assays that would otherwise be missed”, said Tom Morrison. “Additionally, using SNAQ-SEQ controls in the study provided a limit of blank and measurement of background error by position for each sample, which improved the overall accuracy of the variant calls.”
The SEQC2 working group are hopeful to complete the analysis of these studies and submit several manuscripts detailing the complete findings early in 2020.
Identification of actionable mutations in circulating tumor DNA (ctDNA) enables gene-targeted therapy of solid tumors based on a simple blood test. NGS methods that attach a unique molecular identifier (UMI) to each DNA molecule control for sequencing technical error and thereby reduce variant allele fraction (VAF) limit of detection (LOD) to <0.01% at a cost of 10-20-fold higher sequencing requirement.…
Patent Issued for Diagnostic Tool to Identify Human Genetic Information – WILMINGTON, NC, December 12, 2018 – AccuGenomics, Inc., a diagnostic company based in Wilmington, NC, is pleased to announce that the United States Patent and Trademark Office (USPTO) has awarded a patent to technology licensed to AccuGenomics. U.S. Patent Number 9,944,973, entitled “Methods for Standardized Sequencing of Nucleic Acids…