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利用协同过滤加速罕见病诊断。

Leveraging Collaborative Filtering to Accelerate Rare Disease Diagnosis.

作者信息

Shen Feichen, Liu Sijia, Wang Yanshan, Wang Liwei, Afzal Naveed, Liu Hongfang

机构信息

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

出版信息

AMIA Annu Symp Proc. 2018 Apr 16;2017:1554-1563. eCollection 2017.


DOI:
PMID:29854225
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5977716/
Abstract

In the USA, rare diseases are defined as those affecting fewer than 200,000 patients at any given time. Patients with rare diseases are frequently misdiagnosed or undiagnosed which may due to the lack of knowledge and experience of care providers. We hypothesize that patients' phenotypic information available in electronic medical records (EMR) can be leveraged to accelerate disease diagnosis based on the intuition that providers need to document associated phenotypic information to support the diagnosis decision, especially for rare diseases. In this study, we proposed a collaborative filtering system enriched with natural language processing and semantic techniques to assist rare disease diagnosis based on phenotypic characterization. Specifically, we leveraged four similarity measurements with two neighborhood algorithms on 2010-2015 Mayo Clinic unstructured large patient cohort and evaluated different approaches. Preliminary results demonstrated that the use of collaborative filtering with phenotypic information is able to stratify patients with relatively similar rare diseases.

摘要

在美国,罕见病被定义为在任何特定时间影响不到20万患者的疾病。罕见病患者经常被误诊或漏诊,这可能是由于医护人员缺乏相关知识和经验。我们推测,电子病历(EMR)中可用的患者表型信息可用于加速疾病诊断,因为我们直觉认为医护人员需要记录相关表型信息以支持诊断决策,尤其是对于罕见病。在本研究中,我们提出了一种结合自然语言处理和语义技术的协同过滤系统,以基于表型特征辅助罕见病诊断。具体而言,我们在2010 - 2015年梅奥诊所的非结构化大型患者队列上运用了四种相似度度量和两种邻域算法,并对不同方法进行了评估。初步结果表明,结合表型信息使用协同过滤能够对患有相对相似罕见病的患者进行分层。

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本文引用的文献

[1]
A Predictive Model for Medical Events Based on Contextual Embedding of Temporal Sequences.

JMIR Med Inform. 2016-11-25

[2]
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Am J Hum Genet. 2015-7-2

[3]
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Nat Methods. 2014-8-3

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Bringing big data to personalized healthcare: a patient-centered framework.

J Gen Intern Med. 2013-9

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Disease Ontology: a backbone for disease semantic integration.

Nucleic Acids Res. 2011-11-12

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PhenomeNET: a whole-phenome approach to disease gene discovery.

Nucleic Acids Res. 2011-7-6

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Bioinformatics. 2010-3-24

[8]
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Am J Hum Genet. 2008-11

[9]
Zooplankton Species Groups in the North Pacific: Co-occurrences of species can be used to derive groups whose members react similarly to water-mass types.

Science. 1963-5-3

[10]
SNOMED-CT: The advanced terminology and coding system for eHealth.

Stud Health Technol Inform. 2006

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