#rare-disease-diagnosis

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fromTNW | Deep-Tech
1 week ago

DeepRare outperforms doctors in a rare disease diagnosis study

In a head-to-head comparison with five experienced physicians, each with more than a decade of practice, the system achieved higher accuracy across the board. DeepRare correctly identified the disease on its first suggestion 64.4 per cent of the time, compared to 54.6 per cent for the doctors. When given three suggestions instead of one, the AI system achieved diagnostic success in 79 per cent of cases versus 66 per cent for the human specialists.
Artificial intelligence
Medicine
fromPsychology Today
2 weeks ago

The Process of Being Diagnosed With a Rare Condition

Sphincter of Oddi dysfunction is a rare condition affecting digestive juice flow that causes severe abdominal pain and is often overlooked in medical diagnosis despite being treatable.
Medicine
fromNature
1 month ago

How DeepMind's genome AI could help solve rare disease mysteries

AlphaGenome uses AI to predict effects of non-coding DNA mutations, helping interpret previously triaged variants and aiding diagnosis of undiagnosed rare diseases.
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