疾病表型研究:潜力与挑战。

IF 3.7 Q2 GENETICS & HEREDITY Phenomics (Cham, Switzerland) Pub Date : 2023-01-05 eCollection Date: 2023-06-01 DOI:10.1007/s43657-022-00089-4
Weihai Ying
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摘要

多组学和人工智能等研究领域的快速发展,使得获取和分析人类现象的多维大数据成为可能。越来越多的证据表明,表型组学可以为发现新的疾病风险因素、诊断生物标志物和精确治疗提供一种革命性的策略和方法,这与实现精确医学的传统方法相比具有深刻的优势:首先,患者现象的大数据可以提供比基因组更丰富的信息;第二,对疾病的表型研究可能揭示跨尺度和多维表型参数之间的相关性以及相关性的机制;第三,基于表型的研究是大数据驱动的研究,可以显著提高产生新发现的可能性和效率。然而,人类疾病的表型研究仍处于早期发展阶段,面临着多重重大挑战和任务:首先,分析人类现象多维数据的分析和建模方法存在显著不足;其次,建立患者表型数据获取和管理的通用标准至关重要;第三,应开发新的方法和设备来获取临床环境下患者的表型数据;第四,建立疾病表型研究的监管和伦理准则具有重要意义;第五,重要的是发展有效的国际合作。期望对疾病的表型研究将深刻而全面地提高我们的疾病预防、诊断和治疗能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Phenomic Studies on Diseases: Potential and Challenges.

The rapid development of such research field as multi-omics and artificial intelligence (AI) has made it possible to acquire and analyze the multi-dimensional big data of human phenomes. Increasing evidence has indicated that phenomics can provide a revolutionary strategy and approach for discovering new risk factors, diagnostic biomarkers and precision therapies of diseases, which holds profound advantages over conventional approaches for realizing precision medicine: first, the big data of patients' phenomes can provide remarkably richer information than that of the genomes; second, phenomic studies on diseases may expose the correlations among cross-scale and multi-dimensional phenomic parameters as well as the mechanisms underlying the correlations; and third, phenomics-based studies are big data-driven studies, which can significantly enhance the possibility and efficiency for generating novel discoveries. However, phenomic studies on human diseases are still in early developmental stage, which are facing multiple major challenges and tasks: first, there is significant deficiency in analytical and modeling approaches for analyzing the multi-dimensional data of human phenomes; second, it is crucial to establish universal standards for acquirement and management of phenomic data of patients; third, new methods and devices for acquirement of phenomic data of patients under clinical settings should be developed; fourth, it is of significance to establish the regulatory and ethical guidelines for phenomic studies on diseases; and fifth, it is important to develop effective international cooperation. It is expected that phenomic studies on diseases would profoundly and comprehensively enhance our capacity in prevention, diagnosis and treatment of diseases.

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