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蓝迪思:疾病全景探索者。

LanDis: the disease landscape explorer.

机构信息

Universidad Paraguayo Alemana de Ciencias Aplicadas, Facultad de Ciencias de la Ingeniería, San Lorenzo, Paraguay.

Department of Computer Science, Centre for Systems and Synthetic Biology, Royal Holloway University of London, Egham, UK.

出版信息

Eur J Hum Genet. 2024 Apr;32(4):461-465. doi: 10.1038/s41431-023-01511-9. Epub 2024 Jan 10.

DOI:10.1038/s41431-023-01511-9
PMID:38200084
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10999415/
Abstract

From a network medicine perspective, a disease is the consequence of perturbations on the interactome. These perturbations tend to appear in a specific neighbourhood on the interactome, the disease module, and modules related to phenotypically similar diseases tend to be located in close-by regions. We present LanDis, a freely available web-based interactive tool ( https://paccanarolab.org/landis ) that allows domain experts, medical doctors and the larger scientific community to graphically navigate the interactome distances between the modules of over 44 million pairs of heritable diseases. The map-like interface provides detailed comparisons between pairs of diseases together with supporting evidence. Every disease in LanDis is linked to relevant entries in OMIM and UniProt, providing a starting point for in-depth analysis and an opportunity for novel insight into the aetiology of diseases as well as differential diagnosis.

摘要

从网络医学的角度来看,疾病是互作网络发生扰动的结果。这些扰动往往出现在互作网络的特定邻域,即疾病模块中,而与表型相似疾病相关的模块往往位于附近区域。我们介绍 LanDis,这是一个免费的基于网络的交互式工具 (https://paccanarolab.org/landis),允许领域专家、医生和更广泛的科学界在超过 4400 万对遗传性疾病的模块之间的互作网络距离上进行图形导航。地图式界面提供了疾病对之间的详细比较以及支持证据。LanDis 中的每一种疾病都与 OMIM 和 UniProt 中的相关条目相链接,为深入分析提供了起点,并为了解疾病的病因以及鉴别诊断提供了新的机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b685/10999415/ca3c6beb5b24/41431_2023_1511_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b685/10999415/71c82efa2398/41431_2023_1511_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b685/10999415/ca3c6beb5b24/41431_2023_1511_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b685/10999415/71c82efa2398/41431_2023_1511_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b685/10999415/ca3c6beb5b24/41431_2023_1511_Fig2_HTML.jpg

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本文引用的文献

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Disease gene prediction for molecularly uncharacterized diseases.对分子特征不明疾病的疾病基因预测。
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Bioinformatics. 2014 Aug 1;30(15):2235-6. doi: 10.1093/bioinformatics/btu144. Epub 2014 Mar 22.
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Improving GO semantic similarity measures by exploring the ontology beneath the terms and modelling uncertainty.通过探索术语下的本体和建模不确定性来改进 GO 语义相似性度量。
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