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Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

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Son JH1, Xie G2, Yuan C1, Ena L1, Li Z1, Goldstein A1, Huang L3, Wang L4, Shen F4, Liu H4, Mehl K5, Groopman EE5, Marasa M5, Kiryluk K5, Gharavi AG5, Chung WK6, Hripcsak G1, Friedman C1, Weng C7, Wang K8.

1 Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA. 2 Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA. 3 Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA. 4 Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55901, USA. 5 Division of Nephrology, Department of Medicine, Columbia University, New York, NY 10032, USA. 6 Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA. 7 Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA. Electronic address: cw2384@cumc.columbia.edu. 8 Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: wangk@email.chop.edu.