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Next-Generation Sequencing: The Translational Medicine Approach from Bench to Bedside to Population

机译:下一代测序:从板凳到床头再到人群的转化医学方法

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摘要

Humans have predicted the relationship between heredity and diseases for a long time. Only in the beginning of the last century, scientists begin to discover the connotations between different genes and disease phenotypes. Recent trends in next-generation sequencing (NGS) technologies have brought a great momentum in biomedical research that in turn has remarkably augmented our basic understanding of human biology and its associated diseases. State-of-the-art next generation biotechnologies have started making huge strides in our current understanding of mechanisms of various chronic illnesses like cancers, metabolic disorders, neurodegenerative anomalies, etc. We are experiencing a renaissance in biomedical research primarily driven by next generation biotechnologies like genomics, transcriptomics, proteomics, metabolomics, lipidomics etc. Although genomic discoveries are at the forefront of next generation omics technologies, however, their implementation into clinical arena had been painstakingly slow mainly because of high reaction costs and unavailability of requisite computational tools for large-scale data analysis. However rapid innovations and steadily lowering cost of sequence-based chemistries along with the development of advanced bioinformatics tools have lately prompted launching and implementation of large-scale massively parallel genome sequencing programs in different fields ranging from medical genetics, infectious biology, agriculture sciences etc. Recent advances in large-scale omics-technologies is bringing healthcare research beyond the traditional “bench to bedside” approach to more of a continuum that will include improvements, in public healthcare and will be primarily based on predictive, preventive, personalized, and participatory medicine approach (P4). Recent large-scale research projects in genetic and infectious disease biology have indicated that massively parallel whole-genome/whole-exome sequencing, transcriptome analysis, and other functional genomic tools can reveal large number of unique functional elements and/or markers that otherwise would be undetected by traditional sequencing methodologies. Therefore, latest trends in the biomedical research is giving birth to the new branch in medicine commonly referred to as personalized and/or precision medicine. Developments in the post-genomic era are believed to completely restructure the present clinical pattern of disease prevention and treatment as well as methods of diagnosis and prognosis. The next important step in the direction of the precision/personalized medicine approach should be its early adoption in clinics for future medical interventions. Consequently, in coming year’s next generation biotechnologies will reorient medical practice more towards disease prediction and prevention approaches rather than curing them at later stages of their development and progression, even at wider population level(s) for general public healthcare system.
机译:人类长期以来一直在预测遗传与疾病之间的关系。仅在上世纪初,科学家才开始发现不同基因与疾病表型之间的涵义。下一代测序(NGS)技术的最新趋势为生物医学研究带来了巨大的动力,反过来又极大地增强了我们对人类生物学及其相关疾病的基本了解。最新的下一代生物技术已开始在我们对各种慢性病如癌症,代谢紊乱,神经退行性异常等机制的当前理解上取得长足进步。我们正在经历主要由下一代生物技术推动的生物医学研究的复兴诸如基因组学,转录组学,蛋白质组学,代谢组学,脂质组学等。尽管基因组学研究处于下一代组学技术的最前沿,但是,由于高昂的反应成本和无法获得大型仪器所需的计算工具,它们在临床领域的实施一直十分缓慢。规模数据分析。然而,基于序列的化学的快速创新和稳步降低的成本,以及先进的生物信息学工具的发展,近来促使在医学遗传学,传染性生物学,农业科学等不同领域启动和实施大规模大规模并行基因组测序程序。大规模组学技术的最新进展将医疗研究从传统的“从台到床”方法带入了更多的连续体,其中将包括对公共医疗的改进,并将主要基于预测性,预防性,个性化和参与性医学方法(P4)。最近在遗传学和传染病生物学方面的大规模研究项目表明,大规模并行的全基因组/全外显子组测序,转录组分析和其他功能基因组学工具可以揭示大量独特的功能元件和/或标记,否则它们将是传统测序方法无法检测到。因此,生物医学研究的最新趋势正在催生通常被称为个性化和/或精密医学的医学新分支。据信后基因组时代的发展完全重组了当前疾病预防和治疗的临床模式以及诊断和预后的方法。朝着精确/个性化医学方法方向迈出的下一个重要步骤应该是在诊所早日采用该方法以用于将来的医学干预。因此,在来年的下一代生物技术将使医学实践更多地转向疾病预测和预防方法,而不是在其发展和进步的后期阶段治愈它们,甚至在更广泛的公众健康体系中也可以治愈它们。

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