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Updated: May 8, 2025

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
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Published on: October 13, 2023

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通过集群和分类时间版本的生物本体学来生成罕见和未被诊断的疾病的假设

Michael S Bradshaw1, Connor Gibbs2, Skylar Martin1

  • 1Department of Computer Science, University of Colorado Boulder, Boulder, CO, United States of America.

PloS one
|December 26, 2024
PubMed
概括

这项研究引入了一种新的计算工具,BOCC,以揭示遗传变异和罕见疾病症状之间的隐藏联系. 通过整合蛋白质相互作用和表型数据,BOCC有助于诊断当直接遗传联系是未知的患者.

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