Article

A deep learning transformer model predicts high rates of undiagnosed rare disease in large electronic health systems

2023-12-24

Abstract excerpt

It is estimated that as many as 1 in 16 people worldwide suffer from rare diseases. Rare disease patients face difficulty finding diagnosis and treatment for their conditions, including long diagnostic odysseys, multiple incorrect diagnoses, and unavailable or prohibitively expensive treatments. As a result, it is likely that large electronic health record (EHR) systems include high numbers of participants sufferi...

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Literature Corpus work: 7f126b7f-5e84-5fee-887a-bce037ff72af
DOI: 10.1101/2023.12.21.23300393

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