Article

Discovering Monogenic Patients with a Confirmed Molecular Diagnosis in Millions of Clinical Notes with MonoMiner

2021-07-07

Abstract excerpt

<h4>Purpose</h4> Cohort building is a powerful foundation for improving clinical care, performing research, clinical trial recruitment, and many other applications. We set out to build a cohort of all patients with monogenic conditions who have received a definitive causal gene diagnosis in a 3 million patient hospital system. <h4>Methods</h4> We define a subset of half (4,461) of OMIM curated diseases for which a...

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Literature Corpus work: ac1822e0-8f87-52b5-8041-6a52305e89d4
DOI: 10.1101/2021.07.05.21259995

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