A New Twist on Diagnostics Development: Partnership with SynBio Pioneers to Accelerate NGS-based Diagnostic Testing

Methylation and low-frequency variation detection made easier? By combining our integrated, comprehensive computational platform with synthetic DNA innovator Twist Bioscience’s NGS Methylation Detection System and Unique Molecular Identifier (UMI) Adapter System, researchers now have even more powerful tools in their NGS analysis Kit.

DNA methylation (the process of adding methyl groups to DNA segments) is an epigenetic modification that regulates gene expression and interplays with genetic and environmental alterations. Aberrant DNA methylation has been confirmed as one of the hallmarks of cancer, an area in which researchers are studying its patterns for use as a potential biomarker for prognosis, diagnosis, treatment response, and therapeutic targets. In the case of colorectal cancer, for example, methylation profiles obtained from blood liquid biopsy have shown potential in early-stage detection of disease.

Twist’s NGS Methylation Detection System provides robust sample preparation and target enrichment solutions for identifying methylated regions in the human genome, and its UMI Adapter System detects low-frequency variants in low-input sample sources such as cell-free DNA (cfDNA). Together, they can be used to better characterize and understand the genetic mechanisms linked to not only cancer, but also neurodegeneration and rare diseases.

The addition of the DNAnexus platform to this end-to-end NGS-based workflow means users will be able to easily explore and analyze the complex datasets generated by the systems in a single, scalable, cloud-based environment, thereby reducing their data analysis timeline after performing a sequencing run.

This, in turn, could reduce the time to design, validate, and commercialize new, high- quality, next-generation sequencing (NGS)-based diagnostic tests. “With the integrated DNAnexus platform, Twist customers can now reduce the complex data analysis bottleneck, which we believe will offer significant time savings and cost advantages,” said DNAnexus president John Ellithorpe, PhD.

The core of Twist’s DNA synthesis and engineering platform is a proprietary technology that “writes” DNA on a silicon chip. The company is leveraging this technology to manufacture a broad range of synthetic DNA-based products, including synthetic genes, tools for NGS preparation, and antibody libraries for drug discovery and development.

“Our customers can now access industry-leading computational infrastructure platforms to support their bioinformatics needs and reduce their data analysis timeline after performing a sequencing run with our NGS Methylation Detection and UMI Adapter

Systems,” said Twist CEO Emily M. Leproust, PhD. “This collaboration with DNAnexus is another example of our ongoing commitment to providing our customers with the tools they need for complete, customized, end-to-end workflows.”

Learn more. Engage with DNAnexus today.