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Next Generation Reference Materials for Somatic Mutation Detection in Circulating Cell-Free DNA

Advances in next generation sequencing (NGS) are enabling larger panel sizes and increased sensitivities for liquid biopsies. These advances lead to a need for patientlike reference materials (RMs) with more clinically relevant alterations at lower levels than before. To address this need, we generated novel circulating tumor DNA (ctDNA) RMs that combine much of the content of our Seraseq™ ctDNA reference materials and add additional variants and copy number alterations (CNAs). Because limits of detection of individual mutations are now at or below 0.2 % variant allele frequency (VAF) in some ctDNA assays, we also reduced the lowest VAF from 0.1 % to 0.01 %. Here we provide data on the initial testing of these RMs.

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Scientific poster: Next Generation Reference Materials for Somatic
Mutation Detection in Circulating Cell-Free DNA
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