Article

A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

2021-03-24

Abstract excerpt

Knowledge of the clinical spectrum of rare genetic disorders helps in disease management and variant pathogenicity interpretation. Leveraging electronic health record (EHR)-linked genetic testing data from the eMERGE network, we determined the associations between a set of 23 hereditary cancer genes and 3017 phenotypes in 23544 individuals. This phenome-wide association study replicated 45% (184/406) of known gene...

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Literature Corpus work: 8826d1e9-df87-5bcf-b72f-1330e765af6f
DOI: 10.1101/2021.03.18.21253763

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