Low frequency variant detection with increased accuracy


QIAGEN Digital Insights

Low frequency variant detection with increased accuracy

Using new QIAseq DNA Targeted Panels with Biomedical Genomics Workbench increases the accuracy of detecting low frequency variants.

We are excited to launch the QIAseq DNA V3 Panel Analysis plug-in for Biomedical Genomics Workbench and Biomedical Genomics Server Solution. The plug-in analyzes and visualizes data from the new QIAseq Targeted DNA Panels — as well as custom DNA panels designed via the Custom Panel Design Service. When combined with Biomedical Genomics Workbench, the QIAseq Targeted DNA Panels enable ‘Digital NGS’ with high accuracy for detecting low frequency variants.

‘Digital NGS’ offers a unique approach, which incorporates unique molecular indices (UMIs) into the starting DNA material before any amplification takes place. This process eliminates errors due to PCR duplicates, which can lead to false positives, false negatives, and an altered allelic fraction/allele frequency of detected variants. By labeling each biomolecule with a UMI, the software is able to filter out PCR artifacts, which increases overall sensitivity and specificity in detecting low frequency variants. In addition, ligation artifacts are automatically removed.

The new QIAseq DNA V3 Panel Analysis plug-in provides a complete, ready-to-use workflow with all necessary analysis tools and many optimized, locked down parameter settings for analyzing Illumina data — making it simple to analyze your UMI-based panel data with Biomedical Genomics Workbench, with no expert bioinformatics expertise needed.