Like many genetic diagnostic laboratories past and current, the Victorian Clinical Genetics Service (VCGS), one of the first laboratories in Australian to be accredited for clinical genomic testing, used to employ a variety of different molecular tests and targeted sequencing panels to meet different demands for clinical genomic testing. However, with increased scale, and improvements in lab automation and capture chemistries, the cost of data generation has now dropped to a level where it is more efficient to use exome sequencing as the underlying platform for most clinical genomic applications. Here we will discuss our experience with transitioning from physical targeted panels to in-silico panels backed by exomes, and provide an outlook on emerging clinical genomic applications, including epigenomics and newborn screening.

Advances in Next Generation Sequencing (NGS) are driving improvements in detection, treatment and routine monitoring of cancer. Faster and more accurate assays will ultimately lead to better outcomes for patients. Hear from key opinion leaders in the cancer research and clinical oncology field, and learn how they overcome their research hurdles using Twist’s robust and effective NGS target enrichment solutions.

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.