Twist Bioscience Corporation has announced it collaborated with Regeneron Genetics Center LLC (RGC) for the production of a custom next-generation sequencing (NGS) population genetics genotyping assay. Arising from a need to incorporate the genetic differences of global populations, this assay is designed to gain new insights into disease mechanisms, identify novel drug targets, and accelerate drug discovery and development. Twist will market the assay as the Twist Diversity SNP Panel, and will make the content available to researchers globally for their population genomics studies.
Genome-wide association studies using genotyping microarrays have long been a critical tool in understanding how genetic variation impacts disease. Recent reports highlight that the majority of genetic association studies completed with commercially available microarray platforms include genetic markers from people of European descent predominantly, with little global diversity. Underrepresentation of diverse populations in genomic analysis hinders the ability to fully understand disease cause and correlation and perpetuates inequality in patient care.
Addressing this gap, the Twist Diversity SNP panel is inclusive of approximately 1.4 million globally-representative genetic variations known as single-nucleotide polymorphisms (SNPs). Under its new agreement with the RGC, Twist will make this product broadly available to customers beginning today.
“Leveraging Twist’s custom NGS panel design capabilities, the RGC developed a first-of-its-kind, proprietary population genotyping assay that includes DNA probes that capture globally diverse genetic sequence variations,” said John Overton, PhD, vice president and RGC chief sequencing officer. “This targeted panel integrates into our existing fully automated exome processing workflow and provides base calls and imputed variants whose quality already exceeds the array-based approaches we were using. We began using this panel in late 2020 in the RGC and already we are seeing positive results in our integrated research to better understand the biology of human diseases.”
The Diversity SNP assay also enables research centers to consolidate their data generation costs and physical footprints by leveraging next-generation sequencers for both genotyping and exome/custom panels rather than maintaining separate genotyping instrumentation and lab space. While microarrays provide information about the presence or absence of a genetic variant, the Diversity SNP panel produces dynamic, multi-faceted information across a broad spectrum of the population. In addition, the panel can be iterated quickly to build a customized assay incorporating real-time journal and database entries.
“While SNP microarray has been the gold standard of genetic study, we have more and more customers asking for a complete genotyping solution that allows flexibility for customized disease research and we believe this is the future of disease marker testing,” said Emily M. Leproust, PhD, CEO and co-founder of Twist Bioscience. “Collaborating with Regeneron to optimize the assay with content from multiple ethnicities enables increased characterization of diverse populations to improve understanding around disease and potentially therapeutic development as well. We’re pleased to bring the Twist Diversity SNP assay to the scientific community.”