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Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
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.
Afiliação
  • Son JH; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
  • Xie G; 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.
  • Yuan C; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
  • Ena L; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
  • Li Z; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
  • Goldstein A; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
  • Huang L; 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.
  • Wang L; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55901, USA.
  • Shen F; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55901, USA.
  • Liu H; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55901, USA.
  • Mehl K; Division of Nephrology, Department of Medicine, Columbia University, New York, NY 10032, USA.
  • Groopman EE; Division of Nephrology, Department of Medicine, Columbia University, New York, NY 10032, USA.
  • Marasa M; Division of Nephrology, Department of Medicine, Columbia University, New York, NY 10032, USA.
  • Kiryluk K; Division of Nephrology, Department of Medicine, Columbia University, New York, NY 10032, USA.
  • Gharavi AG; Division of Nephrology, Department of Medicine, Columbia University, New York, NY 10032, USA.
  • Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
  • Hripcsak G; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
  • Friedman C; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
  • Weng C; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA. Electronic address: cw2384@cumc.columbia.edu.
  • Wang K; 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; Depa
Am J Hum Genet ; 103(1): 58-73, 2018 07 05.
Article em En | MEDLINE | ID: mdl-29961570
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos