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Rapid DNA sequencing promises timely diagnosis for thousands of rare disease cases

For children suffering from rare diseases, it usually takes years to receive a diagnosis. This “diagnostic odyssey” is filled with multiple referrals and a barrage of tests, seeking to uncover the root cause behind mysterious and debilitating symptoms. A new speed record in&#...
United States Oxford Nanopore Kevin Doxzen Matthew Junzman Global Alliance For Genomics Health Human Heredity Health In Africa Initiative

Record-breaking rapid DNA sequencing promises timely diagnosis for thousands of rare disease cases

A new speed record in DNA sequencing may soon be key to casting a wider net and providing a faster turnaround for critical diagnosing of rare diseases, especially in children
United States Oxford Nanopore Matthew Junzman Global Alliance For Genomics Health Human Heredity Health In Africa Initiative European Joint Programme On Rare Diseases

Record-breaking rapid DNA sequencing promises timely diagnosis for thousands of rare disease cases

Record-breaking technology can sequence an entire human genome in a matter of hours. The work could be a lifeline for people suffering from the more than 5,000 known rare genetic diseases.
United States Oxford Nanopore Matthew Junzman Global Alliance For Genomics Health Human Heredity Health In Africa Initiative European Joint Programme On Rare Diseases

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Record-breaking rapid DNA sequencing promises timely diagnosis for thousands of rare disease cases

Record-breaking technology can sequence an entire human genome in a matter of hours. The work could be a lifeline for people suffering from the more than 5,000 known rare genetic diseases.
United States Oxford Nanopore Matthew Junzman Global Alliance For Genomics Health Human Heredity Health In Africa Initiative European Joint Programme On Rare Diseases

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