Oxford Nanopore Technologies, the company delivering a new generation of nanopore-based molecular sensing technology, and Geneyx, an AI platform for human genetic analysis and interpretation, are aiming to team up to develop the first scalable software solution for the end-to-end analysis and clinical reporting of nanopore sequencing data. The advanced platform will seamlessly empower clinical centres including hospitals, genetic labs and researchers with human whole-genome sequencing data and analysis.

The new software platform, which is anticipated to be commercially available following the completion of a pilot phase, is intended to advance the future clinical use of nanopore sequencing and will be designed to load, visualise and annotate nanopore sequencing data. Once available, it will be of immediate use in newborn screening and the research and characterisation of rare and undiagnosed diseases, providing “one-click” analysis of whole human sequencing data, including actionable genetic variants.

The collaboration will combine Geneyx’s data analysis capabilities with Oxford Nanopore’s human-variation workflow and secure data transfer. The platform will seamlessly integrate with EPI2ME, Oxford Nanopore’s data analysis solution, which will perform the secondary sequence analysis. The results will then be pushed to the Geneyx cloud and on-site capability, where precise annotation and classification of the variants will be performed, providing a further layer of simplified bioinformatics designed for future clinical use.

The partnership will kick off with pilot projects to evaluate this software solution within third-party sites. The Geneyx solution is currently used by 4,000 active users in 36 countries worldwide.

Gordon Sanghera, CEO, Oxford Nanopore Technologies, commented: “We are excited to collaborate with Geneyx to develop an end-to-end analysis tool for the clinical reporting of nanopore sequencing data. Through this seamless integration, customers will benefit from the combined power of nanopore sequencing with Geneyx’s AI-powered analysis for an added layers of insight to support critical workflows such as newborn screening and research into rare disease.”