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人工智能在医学遗传学和分子医学中的影响和未来:正在进行的革命。

The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.

机构信息

Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Department of Electrical and Computer Engineering, Graduate School of Engineering and Sciences, Abdullah Gul University, Kayseri, Turkey.

出版信息

Funct Integr Genomics. 2024 Aug 16;24(4):138. doi: 10.1007/s10142-024-01417-9.

Abstract

Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular medicine, as in many other fields. The growth in patient data, identification of new diseases and phenotypes, discovery of new intracellular pathways, availability of greater sets of omics data, and the need to continuously analyse them have led to the development of new AI platforms. AI continues to weave its way into the fabric of genetics with the potential to unlock new discoveries and enhance patient care. This technology is setting the stage for breakthroughs across various domains, including dysmorphology, rare hereditary diseases, cancers, clinical microbiomics, the investigation of zoonotic diseases, omics studies in all medical disciplines. AI's role in facilitating a deeper understanding of these areas heralds a new era of personalised medicine, where treatments and diagnoses are tailored to the individual's molecular features, offering a more precise approach to combating genetic or acquired disorders. The significance of these AI platforms is growing as they assist healthcare professionals in the diagnostic and treatment processes, marking a pivotal shift towards more informed, efficient, and effective medical practice. In this review, we will explore the range of AI tools available and show how they have become vital in various sectors of genomic research supporting clinical decisions.

摘要

人工智能(AI)平台已经成为遗传学和分子医学以及许多其他领域的关键工具。随着患者数据的增长、新疾病和表型的识别、新的细胞内途径的发现、更多组学数据的可用性以及对这些数据进行持续分析的需求,新的 AI 平台不断涌现。人工智能继续深入遗传学领域,有可能带来新的发现并改善患者护理。这项技术正在为包括畸形学、罕见遗传性疾病、癌症、临床微生物组学、人畜共患病研究、所有医学领域的组学研究在内的各个领域的突破奠定基础。人工智能在促进对这些领域的深入理解方面发挥着作用,预示着个性化医疗的新时代的到来,在这个时代,治疗和诊断是根据个体的分子特征量身定制的,为对抗遗传或后天获得的疾病提供了更精确的方法。随着这些 AI 平台在诊断和治疗过程中帮助医疗保健专业人员,它们的重要性正在增加,标志着向更具信息性、效率更高和更有效的医疗实践的重大转变。在这篇综述中,我们将探讨现有的各种 AI 工具,并展示它们如何在支持临床决策的基因组研究的各个领域中变得至关重要。

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