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Updated: Jul 2, 2025

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
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GPAD:基于自然语言处理的应用程序,从OMIMIM中提取基因疾病关联发现信息

K M Tahsin Hassan Rahit1,2, Vladimir Avramovic1,2, Jessica X Chong3,4

  • 1Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.

BMC bioinformatics
|February 27, 2024
PubMed
概括

一个新的工具,基因表型协会发现 (GPAD),使用自然语言处理从OMIM中提取基因疾病协会. 尽管发现后外体序列的发现增加,但近年来显示下降,需要更大的队列和增加模型生物的使用.

关键词:
基因发现 基因发现基因与疾病的关系门德尔的障碍是门德尔的障碍.在NLP中,我们使用了NLP.罕见疾病基因是罕见疾病的基因.基因发现的趋势

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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