对NIH资助数据的语义注释,用于支持罕见疾病研究
Szeling Hsu1, Sue Qu1, Yanji Xu1
1Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, USA.
Proceedings. IEEE International Conference on Bioinformatics and Biomedicine
|September 12, 2025
概括
这项研究通过使用自然语言处理 (NLP) 来分析国家卫生研究院 (NIH) 资助数据来增强罕见疾病研究. 一个更新的知识图将绘制研究差距,并激发未来研究.
科学领域:
- 生物医学信息学 生物医学信息学
- 罕见疾病研究 罕见疾病研究
- 医疗保健服务研究 医疗服务研究
背景情况:
- 过去二十年来,罕见病研究项目的数量显著增加.
- 对NIH资助的项目进行系统分析对于评估研究状况和识别差距至关重要.
- 之前的工作建立了基于项目标题的NIH资助的罕见病研究的知识图.
研究的目的:
- 扩大NIH资助数据用于罕见疾病研究的实用性.
- 通过使用一种新的NLP包,确定与罕见疾病相关的项目.
- 用生物医学概念对项目标题和摘要进行语义注释,以澄清研究目标.
主要方法:
- 应用NormMap NLP包,以确定NIH资助的罕见病专注项目.
- 项目标题和摘要的语义注释使用统一医疗语言系统 (UMLS) 生物医学概念.
- 利用提取的信息来为更新知识图的开发提供信息.
主要成果:
- 成功识别和语义注释NIH资助的罕见病研究项目.
- 通过NLP和UMLS概念映射增强数据表示.
- 为更新的知识图形奠定了基础,其中包含了更丰富的语义信息.
结论:
- 基于NLP的语义注释方法有效地丰富了NIH的资金数据.
- 这些增强的数据有助于更深入地了解罕见疾病研究领域.
- 更新的知识图准备通过突出关键领域和潜在的差距来推进罕见病研究.
相关概念视频
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...