NEW YORK – Oxford Nanopore Technologies said on Wednesday that it has inked a partnership with Swiss next-generation sequencing data analysis company Saphetor to enable tertiary analysis of nanopore sequencing data for variant interpretation and prioritization.
Financial details of the deal were not disclosed.
Under the collaboration, the companies plan to establish "a direct connection between secondary and tertiary analysis" of nanopore sequencing data by integrating Oxford Nanopore's Epi2Me research software with Saphetor's VarSome Clinical, a CE-marked IVD medical device and HIPAA-compliant analysis platform.
According to Oxford Nanopore, VarSome Clinical can visualize different variant categories in a single view for a given region of interest, including predicted variant impact, phase information, and co-location of other known variants in that region from publicly available databases.
The collaboration will first aim to develop an end-to-end workflow focusing on the analysis of long-read whole-genome sequencing for rare and undiagnosed diseases, initially for clinical research.
Once validated, the platform is expected to enhance the future clinical use of nanopore sequencing data by enabling variant discovery, annotation, and classification.