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基于网络的方法从表型角度研究人类疾病。

Network-Based Methods for Approaching Human Pathologies from a Phenotypic Point of View.

机构信息

Department of Molecular Biology and Biochemistry, University of Malaga, 29071 Malaga, Spain.

CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.

出版信息

Genes (Basel). 2022 Jun 17;13(6):1081. doi: 10.3390/genes13061081.

Abstract

Network and systemic approaches to studying human pathologies are helping us to gain insight into the molecular mechanisms of and potential therapeutic interventions for human diseases, especially for complex diseases where large numbers of genes are involved. The complex human pathological landscape is traditionally partitioned into discrete "diseases"; however, that partition is sometimes problematic, as diseases are highly heterogeneous and can differ greatly from one patient to another. Moreover, for many pathological states, the set of symptoms (phenotypes) manifested by the patient is not enough to diagnose a particular disease. On the contrary, phenotypes, by definition, are directly observable and can be closer to the molecular basis of the pathology. These clinical phenotypes are also important for personalised medicine, as they can help stratify patients and design personalised interventions. For these reasons, network and systemic approaches to pathologies are gradually incorporating phenotypic information. This review covers the current landscape of phenotype-centred network approaches to study different aspects of human diseases.

摘要

网络和系统方法研究人类病理学正在帮助我们深入了解人类疾病的分子机制和潜在的治疗干预措施,特别是对于涉及大量基因的复杂疾病。复杂的人类病理景观传统上被划分为离散的“疾病”;然而,这种划分有时会出现问题,因为疾病高度异质,并且在不同患者之间可能存在很大差异。此外,对于许多病理状态,患者表现出的症状(表型)集不足以诊断特定疾病。相反,根据定义,表型是直接可观察到的,并且可以更接近病理学的分子基础。这些临床表型对于个性化医学也很重要,因为它们可以帮助对患者进行分层并设计个性化干预措施。出于这些原因,病理的网络和系统方法正在逐渐纳入表型信息。这篇综述涵盖了以表型为中心的网络方法研究人类疾病不同方面的当前格局。

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