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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 DNA sequencing may soon help families more… ....

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Rapid DNA Sequencing Tech Breaks the Speed Record for Reading Whole Genomes

In just 7 hours, 18 minutes, a team of researchers at Stanford Medicine went from collecting a blood sample to offering a disease diagnosis. ....

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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 , Stanford Medicine , Guinness World , Human Genome Project , Oxford Nanopore Technologies , Stanford Hospital , Human Heredity , Africa Initiative , European Joint Programme , Rare Diseases , Global Alliance ,

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. ....

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

(The Conversation is an independent and nonprofit source of news, analysis and commentary. ....

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