DNA methylation is a key epigenetic signal that helps control gene expression. It is often misregulated in cancers and thus has become an important marker in oncology research. Most current methods for methylation detection involve differential conversion of bases (e.g., C to T and meC to C) during library preparation. These methods can have batch effects that are difficult to control and thus researchers could benefit from a set of known standards that can be used to calibrate methylation experiments. Twist has developed a set of methylation controls for just that purpose. Our controls can be spiked into samples to calibrate methylation measurements. By using a set of 48 orthogonal sequences with different sequences, numbers of CpG sites, and levels of methylation, researchers can quantitatively assess conversion efficiencies.

Learn about capture sequencing with Twist’s RNA Exome panel using a novel design strategy.

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.