PheSom:一种基于术语频率的方法,用于基于MeSH词汇的基础上测量人类表型相似性
Xinhua Liu1,2, Ling Gao1, Yonglin Peng3
1Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang, China.
Frontiers in genetics
|July 27, 2023
概括
我们开发了PheSom,这是一种使用MeSH术语计算表型相似性的新方法. 这种方法通过识别复杂疾病的更可靠的表型-基因关联来增强药物重新用途.
科学领域:
- 计算生物学是一种计算生物学.
- 生物信息学是一种生物信息学.
- 医疗信息学医学信息学
背景情况:
- 药物重新定位需要准确的表型相似性计算.
- 现有的方法可能无法完全捕捉复杂的表型关系.
研究的目的:
- 提出PheSom (MeSH上的表型相似性),这是测量表型相似性的新方法.
- 为了提高准确性,利用MeSH条款和TF-IDF权重.
主要方法:
- 使用OMIM的MeSH术语来定义表型.
- 开发了PheSom算法,结合了术语频率-反向文档频率 (TF-IDF).
- 使用表型相关基因评估PheSom.
主要成果:
- 创建了一个7,739 × 7,739表型相似性得分矩阵.
- 已证明表型对数减少,相似性得分增加.
- 展示了与表型相关的基因的重叠率增加,具有更高的相似性得分,验证了该方法的可靠性.
结论:
- PheSom提供了可靠的表型相似性的衡量标准.
- 该方法对确定复杂疾病的新型治疗策略具有前景.
- 这种方法可以推动药物重用倡议.
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