Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 2020

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Catch our new paper that combines clinical signs/symptoms with clinical sequence analysis to improve diagnosis. Congrats to SimulConsult and Mickey Segal for a great job. https://t.co/QWT125FvpU

25 Jul 2020

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