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New whole genome nanopore sequencing partnership targeting rare disease and oncology

Oxford Nanopore Technologies and AI-driven genomic decision support software company SeqOne have announced a new partnership, which will enable end-to-end analytical workflows from sample to report, focusing on rare diseases in the short-term and oncology in the longer-term.

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

SeqOne’s germVar offers precise and comprehensive variant analysis for single and family cases (CNV, SNPs, INDEL, SV, STR) within an advanced and intuitive interpretation hub (phasing display, in-silico panels, advanced viewers, gold standard scores, and variant knowledge base).

Designed to streamline whole genome variant interpretation at scale, SeqOne DiagAi (RUO) saves time and reduces costs by ranking, shortlisting, and suggesting causative variants with best-in-class accuracy. It also enables one-click HPO extraction from clinical notes with the DiagAI Notes2HPO large language model.

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 recognised, and counting, the Developing Nations Working Group of the Undiagnosed Diseases Network International (DNWG-UDNI) estimates that up to 50% of patients with a rare disease remain undiagnosed even in advanced clinical settings where genome sequencing techniques are applied routinely. This collaboration will simplify the analysis of nanopore sequencing data and will bring the benefits of richer, more complete data to enable the characterisation 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.

Gordon Sanghera, CEO, Oxford Nanopore Technologies, commented: “We are excited to collaborate with SeqOne to provide end-to-end solutions for our customers in rare disease and oncology. Combining nanopore sequencing data with SeqOne’s AI-powered variant interpretation platform will support the time-sensitive workflows of our clinical customers, and we look forward to advancing their research and supporting future clinical use.”

 

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Pathology Horizons 2024

MacDonald Bath Spa Hotel, Bath
18-20 April, 2024

Diagnostics North East Conference 2024

The Catalyst, Newcastle upon Tyne
19 April, 2024

ECCMID 2024 - European Congress of Clinical Microbiology and Infectious Diseases

Fira Gran Via, 08038 Barcelona, Spain
27-30 April 2024

British Society for Microbial Technology Annual Microbiology Conference

UK Health Security Agency, Colindale, London
2 May 2024

EQA Reports: Interpreting Key Information & Troubleshooting Tips

ONLINE - Zoom
Thursday 16th May 2024

Participants’ Meeting: UK NEQAS Immunology, Immunochemistry & Allergy

Sheffield Hallam University, City Campus, Howard Street, Sheffield
24th May 2024

Access the latest issue of Pathology In Practice on your mobile device together with an archive of back issues.

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