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从基因组到临床:转化生物信息学在改善人类健康方面的作用。

From genome to clinic: The power of translational bioinformatics in improving human health.

机构信息

Department of Biochemistry, School of Life Sciences, Central University of Rajasthan, Bandarsindri, Kishangarh, Ajmer, Rajasthan, India.

College of Biotechnology, Sardar Vallabhbhai Patel University of Agriculture and Technology, Meerut, Uttar Pradesh, India.

出版信息

Adv Protein Chem Struct Biol. 2024;139:1-25. doi: 10.1016/bs.apcsb.2023.11.010. Epub 2024 Feb 15.

DOI:10.1016/bs.apcsb.2023.11.010
PMID:38448133
Abstract

Translational bioinformatics (TBI) has transformed healthcare by providing personalized medicine and tailored treatment options by integrating genomic data and clinical information. In recent years, TBI has bridged the gap between genome and clinical data because of significant advances in informatics like quantum computing and utilizing state-of-the-art technologies. This chapter discusses the power of translational bioinformatics in improving human health, from uncovering disease-causing genes and variations to establishing new therapeutic techniques. We discuss key application areas of bioinformatics in clinical genomics, such as data sources and methods used in translational bioinformatics, the impact of translational bioinformatics on human health, and how machine learning and artificial intelligence are being used to mine vast amounts of data for drug development and precision medicine. We also look at the problems, constraints, and ethical concerns connected with exploiting genomic data and the future of translational bioinformatics and its potential impact on medicine and human health. Ultimately, this chapter emphasizes the great potential of translational bioinformatics to alter healthcare and enhance patient outcomes.

摘要

转化生物信息学(TBI)通过整合基因组数据和临床信息,提供个性化医学和定制的治疗方案,改变了医疗保健。近年来,由于量子计算等信息学的重大进展和利用最先进的技术,TBI 弥合了基因组和临床数据之间的差距。本章讨论了转化生物信息学在改善人类健康方面的强大功能,从发现致病基因和变异到建立新的治疗技术。我们讨论了生物信息学在临床基因组学中的关键应用领域,例如转化生物信息学中使用的数据来源和方法、转化生物信息学对人类健康的影响,以及机器学习和人工智能如何用于挖掘大量数据以进行药物开发和精准医学。我们还研究了利用基因组数据所涉及的问题、限制和道德问题,以及转化生物信息学的未来及其对医学和人类健康的潜在影响。最终,本章强调了转化生物信息学改变医疗保健和提高患者治疗效果的巨大潜力。

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Promoting synergistic research and education in genomics and bioinformatics.促进基因组学和生物信息学领域的协同研究与教育。
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