Recognising the transformative research of the Nanopore Community on Rare Disease Day

Revealing hidden genetic variants in rare disease with nanopore sequencing

Danny Miller and Ahmad Tayoun's research is revealing hidden variants unresolved by traditional methods, highlighting the potential of nanopore sequencing to address the many challenges in identifying the molecular basis of rare diseases.

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Empowering NHS rapid diagnostic testing with long-read DNA sequencing

Rapid access to genomic information can change lives. Emma Baple discussed the potential of using nanopore technology to rapidly detect genetic variants and to reduce time to genetic results in critical care settings in the future.

Pushing the boundaries of rare disease research

From antithrombin deficiency to neuropathies, researchers across the globe are identifying disease-associated variation — putting the future of healthcare in the hands of scientists.

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What you’re missing matters

With the ability to read any length of DNA, short to ultra-long, nanopore sequencing captures more genomic variation—including structural variation and methylation—empowering researchers to take a wider lens on rare diseases.

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A year of game-changing collaborations.

In 2023, we announced partnerships with Genomics England, Geneyx, Fabric Genomics, Seq One Genomics, Saphetor and more, to accelerate genomic advancements in rare disease research.

We look forward to reflecting on all of the discoveries of 2024 next year. You can find out more about the application of nanopore technology for clinical research here.