The 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, significant obstacles remain before such assays can effectively transition to routine clinical care.

Use of Amplified and Synthetic ctDNA to Assess Variant Calls from Targeted NGS PanelsSuch challenges include: 1) the number of mutant molecules in different aliquots of a sample will differ based on underlying Poisson distributions, 2) library preparation methodology (e.g., amplicon vs. hybrid capture) may alter ctDNA representation, 3) sequencing platform-specific errors, 4) assay-specific errors introduced into libraries, and 5) noise suppression may mask low AF mutations.

The Use of Amplified and Synthetic ctDNA to Assess Variant Calls from Targeted NGS Panels

Watch the video and download this poster to see how we evaluated variant calls generated by targeted sequencing NGS panels using different highly multiplexed ctDNA reference materials that contain INDELs, indels, structural variants, and CNVs at various AFs. 

To access both, simply fill out the form to the right!

Complete this form for your free download:

We’re committed to your privacy. SeraCare will not share or sell your data. View our privacy policy below for details.