Oxford Nanopore Partners With Saphetor To Improve Clinical Data Interpretation

Oxford Nanopore Technologies has announced a collaboration with Saphetor, an advanced next-generation sequencing data analysis firm, to use Saphetor’s data analysis software for Oxford Nanopore’s sequencing technology.

The partnership will combine Oxford Nanopore’s EPI2ME™ research software and VarSome Clinical, an IVD medical device certified with a CE mark and compliant with HIPAA standards, offered by Saphetor, with a goal of providing a sample to answer informatics solution. Oxford Nanopore’s sequencing platform currently provides researchers with tools to decipher raw sequencing data, including basecalling, with the aid of artificial intelligence through MinKNOW™ device software. Their secondary analysis covers initial data processing, such as identifying variants, aided by EPI2ME software and a variety of pre-configured workflows that focus on human genomic and epigenomic variations. Collaborating with Saphetor introduces a tertiary analysis layer, concentrating on genetic variants and the prioritization of variants potentially associated with various medical conditions. VarSome Clinical offers sophisticated visualization capabilities, allowing for the simultaneous visualization of different variant categories within a specific region of interest, categorized by predicted impact, phase information (if available), and colocation with other known variants from publicly available databases. Additionally, it provides a sample viewer for a straightforward and filterable overview of the variation landscape within the analyzed sample. The platform also allows real-time, dynamic data filtering with the option to save and reuse named filters.

Initially, this end-to-end solution will concentrate on the analysis of long-read whole-genome sequencing, primarily for rare and undiagnosed diseases, within the clinical research context. Upon validation, the platform is poised to greatly enhance the clinical application of information-rich data generated by Oxford Nanopore, facilitating variant discovery, annotation, and classification.

Gordon Sanghera, CEO of Oxford Nanopore Technologies, expressed his enthusiasm for this collaboration, emphasizing the potential impact on clinical research in areas such as cancer and rare and undiagnosed diseases. By combining Oxford Nanopore’s long nanopore sequencing reads with Saphetor’s comprehensive tertiary analysis, this partnership is set to provide valuable insights and drive future clinical use of rich genomic data.