Oxford Nanopore Technologies plc, a company providing next-generation nanopore-based molecular sensing technology, and Saphetor, a next-generation sequencing data analysis company, today announce a new partnership to support supports comprehensive analysis of nanopore sequencing data and enables comprehensive analysis of nanopore sequencing data. -end of workflow.The collaboration with Saphetor will enable direct connectivity between secondary and tertiary analyses, connecting Oxford Nanopore EPI2ME™ research software to VarSome Clinical, a CE marked IVD medical device and HIPAA compliant platform from Saphetor. This will provide an integrated solution from pattern interpretation to variation interpretation.The Oxford Nanopore sequencing platform now provides search tools to understand raw sequencing signals and provide initial analysis, including base calling. The main tools use AI to convert raw signals into sequential data through the device’s software, MinKNOW™. Secondary analysis focuses on the early stages of data analysis, e.g. variant identification, supported by EPI2ME software and a series of pre-configured workflows, including a focuses on human genetic variation and epigenetics. The collaboration with Saphetor will provide another level of tertiary analysis focusing on genetic variants and prioritizing those potentially associated with disease conditions.VarSome Clinical provides high-quality visualization including simultaneous display of different variant types in a single view for a given region of interest, classified by predicted impact of the variant, phase information (if available) and colocalization from other known variants in this region from publicly available databases. It also provides a sample viewer that provides a simple, filterable view of the overall variation landscape of the analyzed sample. Additionally, it enables proactive and dynamic data filtering in real-time with the ability to save and reuse named filters.To start, the comprehensive solution will focus on long-read whole-genome sequencing analysis for rare and undiagnosed diseases, initially in clinical research. Once validated, the platform is expected to increase future clinical use of the information-rich data generated by Oxford Nanopore, enabling variant detection, annotation and classification.
“We are excited to collaborate with Saphetor to provide end-to-end solutions for our customers. Combining long nanopore sequencing reads with Saphetor’s comprehensive tertiary analysis for clinical researchers in cancer, and rare and undiagnosed diseases will be hugely impactful and will support future clinical use with information rich data.”
Gordon Sanghera, CEO, Oxford Nanopore Technologies.
“The potential of long read sequencing in the clinical setting is tremendous. It could have a great impact for both cancer and rare conditions by bringing structural variants into play as part of clinical decision making. Oxford Nanopore have been pioneering in the sequencing space for a number of years now – to be part of their continued success is very exciting, and we are greatly looking forward to helping accelerate the adoption of long read sequencing technologies into the clinic so that early adopters can start to establish clinical utility and advance genomic healthcare.”
Andreas Massouras, CEO, Saphetor SA.
