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SOPHiA GENETICS

  • Data-Driven Medicine is a big step forward for rare diseases

    Rare disease diagnosis has been improved with the introduction of technologies such as genomics and artificial intelligence, which help clinicians analyse results more efficiently. “It’s impossible to overemphasise the importance of speedy diagnosis for anyone with a medical condition”, says Lewis Darnell, Clinical Scientist and Deputy Quality Manager in the Molecular Genetics Department within Nottingham...

    4 min read
  • AI: accelerating the diagnosis of rare diseases

    “Serial referral” could be the title for the diagnostic journeys of some rare disease patients. Artificial intelligence (AI) now sets out to help to break this arduous cycle of referrals. For many patients, a quick visit to the doctor’s office may not be enough, as the physician will likely need to do multiple tests to...

    3 min read

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