Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria

• Aaron M. Cohen ,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: cohenaa@ohsu.edu

  Affiliation Department of Medical Informatics & Clinical Epidemiology, School of Medicine, Oregon Health & Science University, Portland, Oregon, United States of America

  http://orcid.org/0000-0002-4610-9912

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• Steven Chamberlin,

  Roles Data curation, Validation, Writing – original draft, Writing – review & editing

  Affiliation Department of Medical Informatics & Clinical Epidemiology, School of Medicine, Oregon Health & Science University, Portland, Oregon, United States of America

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• Thomas Deloughery,

  Roles Data curation, Funding acquisition, Methodology, Validation

  Affiliation Department of Medical Informatics & Clinical Epidemiology, School of Medicine, Oregon Health & Science University, Portland, Oregon, United States of America

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• Michelle Nguyen,

  Roles Data curation

  Affiliation Department of Medical Informatics & Clinical Epidemiology, School of Medicine, Oregon Health & Science University, Portland, Oregon, United States of America

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• Steven Bedrick,

  Roles Conceptualization, Software, Writing – review & editing

  Affiliation Department of Medical Informatics & Clinical Epidemiology, School of Medicine, Oregon Health & Science University, Portland, Oregon, United States of America

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• Stephen Meninger,

  Roles Funding acquisition, Investigation, Resources, Validation, Writing – review & editing

  Affiliation Alnylam Pharmaceuticals, Cambridge, Massachusetts, United States of America

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• John J. Ko,

  Roles Conceptualization, Funding acquisition, Supervision, Writing – review & editing

  Affiliation Alnylam Pharmaceuticals, Cambridge, Massachusetts, United States of America

  http://orcid.org/0000-0003-1023-4647

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• Jigar J. Amin,

  Roles Conceptualization, Funding acquisition, Project administration, Writing – review & editing

  Affiliation Alnylam Pharmaceuticals, Cambridge, Massachusetts, United States of America

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• Alex J. Wei,

  Roles Conceptualization, Funding acquisition, Writing – review & editing

  Affiliation Alnylam Pharmaceuticals, Cambridge, Massachusetts, United States of America

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• William Hersh

  Roles Conceptualization, Data curation, Funding acquisition, Methodology, Supervision, Validation, Writing – original draft, Writing – review & editing

  Affiliation Department of Medical Informatics & Clinical Epidemiology, School of Medicine, Oregon Health & Science University, Portland, Oregon, United States of America

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