RARE Daily

Oxford Nanopore and SeqOne Partner to Support Nanopore Sequencing for Rare Diseases

March 18, 2024

Rare Daily Staff

Oxford Nanopore Technologies and SeqOne, an AI-driven genomic decision support software, entered into a new partnership enabling end-to-end analytical workflows from sample to report, focusing on rare diseases in the short-term and oncology in the longer-term.

The partnership will provide end-to-end solutions for whole genome nanopore sequencing reads at scale in future clinical applications, including rare disease and oncology.

“The partnership with Oxford Nanopore Technologies represents a significant step forward for our customers in integrating cutting-edge long-read sequencing into their healthcare diagnostics routine workflows and research efforts,” said Martin Dubuc, CEO, SeqOne, “This collaboration not only enhances our ability to offer comprehensive genomic analyses but also strengthens our commitment to transforming patient care through innovative, data-rich genomic insights.”

Available on SeqOne’s platform, the germVar application enables AI-enhanced whole genome variant interpretation from Oxford Nanopore EPI2ME, currently for research use only.

SeqOne’s germVar WGS offers precise and comprehensive variant analysis for single and family cases within an advanced and intuitive interpretation hub. After a successful test period with early adopters, germVar is now readily available for free trial testing within molecular diagnostic laboratories.

With currently more than 9,000 different rare diseases recognized, the Developing Nations Working Group of the Undiagnosed Diseases Network International (DNWG-UDNI) estimates that up to 50 percent of patients with a rare disease remain undiagnosed even in advanced clinical settings where genome sequencing techniques are applied routinely. This collaboration will enable the simplified analysis of nanopore sequencing and will bring the benefits of richer, more complete data to enable the characterization of rare diseases.

In the future, the collaboration will deliver other variant interpretation applications addressing the needs of cancer predisposition and somatic analysis.

In parallel, leveraging its best-in-class bioinformatics capabilities, SeqOne also announced its global Research Partnership Program that will leverage Oxford Nanopore Adaptive Sampling’s data-rich insights to develop custom bioinformatic pipelines, working closely with the medical community and life science companies to improve diagnostic yield and patient care pathways.

An example of such research partnerships includes a collaboration with Pr. Laurent Mesnard, nephrologist at the APHP. Sorbonne Université, Paris and co-director of the National Centre for Thrombotic microangiopathies, to improve aHUS rare disease diagnostic yield and care pathway with a custom, patent-pending, bioinformatic pipeline enabling CFH tandem double hybrid detection.

Photo: Martin Dubuc, CEO, SeqOne

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