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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache, Lisa; Hughey, Jacob J; Hebbring, Scott; Marlo, Joy; Zhao, Wanke; Ho, Wanting T; Van Driest, Sara L; McGregor, Tracy L; Mosley, Jonathan D; Wells, Quinn S; Temple, Michael; Ramirez, Andrea H; Carroll, Robert; Osterman, Travis; Edwards, Todd; Ruderfer, Douglas; Velez Edwards, Digna R; Hamid, Rizwan; Cogan, Joy; Glazer, Andrew; Wei, Wei-Qi; Feng, QiPing; Brilliant, Murray; Zhao, Zhizhuang J; Cox, Nancy J; Roden, Dan M; Denny, Joshua C.
Afiliação
  • Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Hughey JJ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Hebbring S; Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, USA.
  • Marlo J; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Zhao W; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
  • Ho WT; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
  • Van Driest SL; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • McGregor TL; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Mosley JD; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Wells QS; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Temple M; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Ramirez AH; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Carroll R; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Osterman T; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Edwards T; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Ruderfer D; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Velez Edwards DR; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Hamid R; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Cogan J; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Glazer A; Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Wei WQ; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Feng Q; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Brilliant M; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Zhao ZJ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Cox NJ; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Roden DM; Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, USA.
  • Denny JC; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Science ; 359(6381): 1233-1239, 2018 03 16.
Article em En | MEDLINE | ID: mdl-29590070
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Genéticas Inatas Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Genéticas Inatas Idioma: En Ano de publicação: 2018 Tipo de documento: Article