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相关概念视频

Issues And Trends In Healthcare Delivery System01:29

Issues And Trends In Healthcare Delivery System

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The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
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Integrated Healthcare System01:20

Integrated Healthcare System

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An integrated healthcare system (IHS) is a set of organizations that provides for or arranges to provide coordinated and continuous service to a defined population. The IHS takes responsibility for that particular population's health status and outcome, both clinically and fiscally. An integrated healthcare system is a well-organized, well-coordinated, and collaborative network. The integrated delivery system is a network that connects different healthcare providers to deliver organized,...
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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In the secretory pathway, vesicles transport proteins from one cellular compartment to another in forward transport to deliver the protein to its correct location. Occasionally, misfolded proteins and incorrect proteins escape their original compartments, and a retrieval pathway is used to return the escaped proteins to their original compartment.
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Allosteric proteins have more than one ligand binding site; the binding of a ligand to any of these sites influences the binding of ligands to the other sites. When a protein is allosteric, its binding sites are called coupled or linked.  In the case of enzymes, the site that binds to the substrate is known as the active site and the other site is known as the regulatory site. When a ligand binds to the regulatory site, this leads to conformational changes in the protein that can influence...
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相关实验视频

Updated: Jul 16, 2025

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
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自动化的HL7v2 LRI信息框架,用于简化基因组学-EHR数据集成.

Robert H Dolin1, Rohan Gupta2,1, Kimberly Newsom3

  • 1Elimu Informatics, Inc, Richmond, CA, USA.

Journal of pathology informatics
|September 18, 2023
PubMed
概括

这项研究引入了将基因组数据转换为HL7v2LRI格式的新工具,使得结构化数据从实验室传输到电子健康记录 (EHR) 成为可能. 这样可以更好地访问EHR系统中的遗传变异和临床注释.

关键词:
临床基因组学 临床基因组学欧洲人权理事会 欧洲人权理事会电子健康记录电子健康记录基因组学模块 基因组学模块HL7 HL7 HL7 HL7 HL7 在线实验室信息学 实验室信息学

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科学领域:

  • 基因组数据集成和健康信息学.
  • 临床生物信息学和电子健康记录 (EHR) 的互操作性.

背景情况:

  • 下一代测序数据通常是VCF格式,但大多数EHR缺乏本地VCF支持,导致非结构化的PDF报告.
  • 虽然FHIR的采用正在增长,但HL7版本2 (HL7v2) 仍然在EHR系统中普遍存在.
  • 实验室结果接口 (LRI) 标准HL7v2为结构化基因组数据通信提供了一个框架.

研究的目的:

  • 将现有的VCF扩展到FHIR转换器,以生成符合HL7v2LRI的数据,包括变体注释.
  • 实施自动化管道,将结构化基因组数据从临床实验室传输到电子健康记录.
  • 提高EHR系统中的基因组信息的数据可访问性和实用性.

主要方法:

  • 开发了一个开源工具 (hl7v2GenomicsExtractor),将基因组解释报告转换为符合HL7v2 LRI的HL7v2观测.
  • 扩展了转换器以支持Epic的基因组导入规范和替代输入格式.
  • 实施了一条自动化管道,用于直接将数据传输到EHR.

主要成果:

  • 成功实施了一条自动化管道,将结构化基因组数据从临床实验室转移到EHR.
  • 遗传变异数据和临床注释 (表型,治疗含义) 现在可以通过Epic的基因组学模块在EHR中查看.
  • 转换器成功地将基因组变异和临床注释数据转换为HL7v2消息,用于EHR集成.

结论:

  • 开发的HL7v2转换器使实验室和EHR之间能够进行结构化,基于标准的基因组数据交换.
  • 这个管道克服了静态PDF报告的局限性,使基因组注释可以在EHR中计算和结构化.
  • 解决基因组解释报告中的数据变异性是开发和部署期间的一个关键挑战.