Article

An algorithm to identify patients with rare genetic disorders and its real-world data application

2023-01-31

Abstract excerpt

<h4>Objectives</h4> Develop a digital phenotyping algorithm (PheIndex) using electronic medical records (EMR) data to identify children aged 0-3 who have been diagnosed with genetic disorders or present with illness with an increased risk for genetic disorders from a mother-child cohort. <h4>Methods</h4> We established 13 criteria for the algorithm where two metrics – a quantified score and a classification – were...

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Literature Corpus work: 2d75e1b0-3163-5be9-9256-203ca6756896
DOI: 10.1101/2023.01.27.23285056

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