Classification, Ontology, and Precision Medicine

被引：221

作者：

Haendel, Melissa A. ^{[1
,2
,3
]}

Chute, Christopher G. ^{[4
,5
,6
]}

Robinson, Peter N. ^{[7
,8
]}

机构：

[1] Oregon Hlth & Sci Univ, Oregon Clin & Translat Res Inst, Portland, OR 97201 USA

[2] Oregon State Univ, Linus Pauling Inst, Corvallis, OR 97331 USA

[3] Oregon State Univ, Ctr Genome Res & Biocomp, Corvallis, OR 97331 USA

[4] Johns Hopkins Univ, Sch Med, Baltimore, MD USA

[5] Johns Hopkins Univ, Sch Publ Hlth, Baltimore, MD USA

[6] Johns Hopkins Univ, Sch Nursing, Baltimore, MD USA

[7] Jackson Lab Genom Med, 10 Discovery Dr, Farmington, CT 06032 USA

[8] Univ Connecticut, Inst Syst Genom, Farmington, CT USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2018年 / 379卷 / 15期

关键词：

PATIENT-REPORTED OUTCOMES; ELECTRONIC HEALTH RECORDS; PHENOTYPE ONTOLOGY; IDENTIFICATION; SYSTEM; REPRESENTATION; DIAGNOSTICS; GENERATION; DISCOVERY; FRAMEWORK;

D O I：

10.1056/NEJMra1615014

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A GOAL OF PRECISION MEDICINE1 IS TO STRATIFY PATIENTS IN ORDER TO improve diagnosis and medical treatment. Translational investigators are bringing to bear ever greater amounts of heterogeneous clinical data and scientific information to create classification strategies that enable the matching of intervention to underlying mechanisms of disease in subgroups of patients. Ontologies are systematic representations of knowledge that can be used to integrate and analyze large amounts of heterogeneous data, allowing precise classification of a patient. In this review, we describe ontologies and their use in computational reasoning to support precise classification of patients for diagnosis, care management, and translational research.

引用

页码：1452 / 1462

页数：11

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