Article
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
American journal of human genetics - 5 Jul 2018
Son Jung Hoon, Xie Gangcai, Yuan Chi, Ena Lyudmila, Li Ziran, Goldstein Andrew, Huang Lulin, Wang Liwei, Shen Feichen, Liu Hongfang, Mehl Karla, Groopman Emily E, Marasa Maddalena, Kiryluk Krzysztof, Gharavi Ali G, Chung Wendy K, Hripcsak George, Friedman Carol, Weng Chunhua, Wang Kai
Abstract excerpt
Integration of detailed phenotype information with genetic data is well established to facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However, how to accurately and efficiently extract phenotypes from heterogeneous EHR narratives remains a challenge. Here, we present...
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