Use of synthetic CNV fragments to mimic copy number alterations for ctDNA reference standards

Diagnostic assays of cancer in cell-free (cfDNA) demand reliable reference standards for assessing assay reliability and sensitivity. Here we describe an extension of the Twist Pan-cancer reference standard with a novel copy number variant (CNV) of a common cancer maker ERBB2. This poster illustrates the reliability of the ERBB2 CNV spike and the challenges that accompany CNV assay development, with the most reliable results deriving from the proportional contributions of the donor ERBB2 reads to the HG38 designed CNV spike in.

Covered in this Poster

Design of the CNV reference standard for ERBB2

CNV standard reacts similarly as native cfDNA within assay preparation

Performance of the CNV standard in ddPCR and NGS assays

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Genes

Oligo Pools

NGS Target Enrichment Solutions

Variant Libraries

Synthetic Controls

Antibody Discovery

Use of synthetic CNV fragments to mimic copy number alterations for ctDNA reference standards

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