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基因开放EHR原型设计与创建中的挑战

Challenges in Design and Creation of Genetic openEHR-Archetype.

作者信息

Maranhão Priscila A, Bacelar-Silva Gustavo, Gonçalves-Ferreira Duarte, Vieira-Marques Pedro, Cruz-Correia Ricardo

机构信息

CINTESIS, Porto, Portugal.

出版信息

Stud Health Technol Inform. 2018;247:835-839.

Abstract

Since the Human Genomic Project discovered the sequencing of human genome, the interest about genome content in clinical practice has increased. Genetic information has become a key point to understand diseases or improve treatments, for example, the nutrigenomic and nutrigenetics. However, the huge amount of data generated raises the need for Electronic Health Record (EHR) improvements as it becomes increasingly necessary that it includes more specific genetic information. Thus, we aim to propose standard genetic archetypes (in openEHR) and describe our main challenges in this context. We assessed 2 bibliographical databases (Pubmed and Web of science) to determine the main clinical statements needed to create the archetypes. The clinical statements were organized in archetype-concepts, and they were created in openEHR archetype editor. One archetype - genetic test results - was created from a set of genetic data and submitted to CKM repository for review. Based on the modeled archetypes, an openEHR template can be created from the proposed archetype, mainly in the nutrigenomic area, genetic labs and others related to genetic.

摘要

自人类基因组计划发现人类基因组测序以来,临床实践中对基因组内容的关注度不断提高。遗传信息已成为理解疾病或改善治疗的关键点,例如营养基因组学和营养遗传学。然而,产生的大量数据引发了对电子健康记录(EHR)进行改进的需求,因为越来越有必要让其包含更具体的遗传信息。因此,我们旨在提出标准遗传原型(在openEHR中)并描述我们在此背景下的主要挑战。我们评估了两个文献数据库(PubMed和科学网),以确定创建原型所需的主要临床陈述。临床陈述被组织成原型概念,并在openEHR原型编辑器中创建。一个原型——基因检测结果——是从一组遗传数据创建的,并提交到CKM存储库进行审核。基于建模的原型,可以从提议的原型创建一个openEHR模板,主要应用于营养基因组学领域、基因实验室以及其他与遗传学相关的领域。

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