Pioneering European collaboration to advance genetic diagnostics: introducing the European Long Read Innovation Network (ELRIN)
Oxford Nanopore Technologies collaborates with the University of Tübingen and European sites to consolidate Oxford Nanopore sequencing as a first-line diagnostic tool.
Oxford Nanopore Technologies today announces its support for the European Long Read Innovation Network (ELRIN), a novel European consortium led by experts from the University of Tübingen. This initiative aims to advance sequencing-based clinical diagnostics by establishing a European network to showcase the potential of Oxford Nanopore whole genome sequencing in routine clinical testing. ELRIN will focus on implementing whole genome sequencing as a potential first-line diagnostic tool for rare diseases and familial cancers, addressing significant unmet needs in healthcare.
The ELRIN consortium is committed to setting new standards for clinical genetic testing, ensuring that these tools are accessible and practical for clinical use across Europe. This involves creating a robust infrastructure for access to, and sharing of, reference data, procedures, and analyses. It is also dedicated to building a sustainable, future-proof framework that incorporates next-generation sequencing into routine clinical practice, ensuring ongoing benefits for healthcare systems across European member states.
ELRIN will systematically explore the potential of Oxford Nanopore sequencing for rare diseases and familial cancer by:
Gathering deep control data for genome-wide Copy Number Variation (CNV) and Structural Variant (SV) analyses, including ‘exotic’ variants such as mobile element insertions (MEI), and exact positioning of duplications and inversions, across different populations.
Developing reference data sets for nanopore-based epigenomic data and integrating epigenomic analysis into diagnostics.
Investigating the use of Oxford Nanopore sequencing for common diseases.
By integrating Oxford Nanopore Technologies’ advanced sequencing technology, capable of any read length, ELRIN will move beyond the limitations of legacy sequencing technologies to uncover complex genetic variations previously undetectable. The ELRIN consortium will also interact with broader research efforts, such as the 1Million Genomes initiative, expanding the potential applications of Oxford Nanopore sequencing in healthcare.
ELRIN focuses on providing comprehensive genomic insights and promises to enhance patient-relevant outcomes by offering more precise and timely characterisation of diseases, particularly for rare diseases and complex cancer syndromes. The consortium will also explore the role of epigenetics in unsolved causes of disease.
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"We are proud to support the ELRIN initiative, which exemplifies our commitment to making genomic data accessible and impactful in clinical settings”, said Gordon Sanghera, CEO of Oxford Nanopore Technologies. “This collaboration will harness the full potential of Oxford Nanopore sequencing to improve patient outcomes across Europe."
"ELRIN represents a significant step forward in the integration of cutting-edge sequencing technology into clinical practice,” added Olaf Rieß, Professor at the University of Tübingen and ELRIN lead. “By establishing a comprehensive network and reference data sets, we aim to pave the way for more accurate and timely diagnoses for patients with rare and complex genetic conditions."
The advantages of Oxford Nanopore sequencing reads could make this the gold standard in rare disease diagnostics in the near future. This is urgently needed for patients and doctors as about 40-50% of all patients with rare diseases remain unsolved with legacy sequencing techniques, comprising about 15 million rare diseases patients in Europe and more than 150 million patients worldwide. In addition, early and complex cancer syndromes remain unsolved. Thus, there is a strong medical need to further develop novel technologies in clinical routine testing to identify new causes of genetic conditions.
With scientists from 21 laboratories across 11 European countries – Germany, Denmark, Romania, Italy, Netherlands, Slovenia, France, Czech, Switzerland and Sweden – the ELRIN network is poised to transform the landscape of clinical genetic testing. By uniting expertise and innovative technology, ELRIN aims to accelerate potential diagnoses, improve patient care, and support the integration nanopore sequencing into routine clinical testing.