摘要
几乎是完整的人类基因组序列已随时可得,它可提供研究机会的基础,而推翻目前的我们对人类生物学的理解。新一代测序技术的出现彻底改变了我们质疑基因及其转录产物和如何分析、诊断、监测甚至治疗人类疾病的方法。随着研究者们越来越多的了解遗传和环境因素之间的相互作用促成常见疾病的发病,个人遗传图谱的医学价值正在显著增加。随着测序成本的大幅降低,个人的全基因组测序正成为现实,个性化的基因组医学领域发展迅速。现在迫切需要准确的注释人类基因组中重要的序列的所有功能和它们之间促成健康和疾病的变化。我们的基因组的绝大多数产生RNA转录。这种非常灵活的分子不仅编码蛋白质信息,而且有很大的结构动力和可塑性、DNA / RNA /蛋白质相互作用的能力和催化活性。它是与人类疾病有明确的联系的生物网络的关键的调节器,有需要更全面的了解它的功能,使其最大限度地运用在医疗实践中。这篇综述重点关注了我们的基因组的复杂性和测序技术对了解其在健康和疾病的许多产物和功能的影响。
关键词: 新一代基因测序,非编码的RNA,GWAS,个性化医学,捕捉测序
Current Gene Therapy
Title:Seq and You Will Find
Volume: 16 Issue: 3
Author(s): Nicole Schonrock, Nicky Jonkhout, John S. Mattick
Affiliation:
关键词: 新一代基因测序,非编码的RNA,GWAS,个性化医学,捕捉测序
摘要: The human genome sequence is freely available, nearly complete and is providing a foundation of research opportunities that are overturning our current understanding of human biology. The advent of next generation sequencing has revolutionized the way we can interrogate the genome and its transcriptional products and how we analyze, diagnose, monitor and even treat human disease. Personal genetic profiles are increasing dramatically in medical value as researchers accumulate more and more knowledge about the interaction between genetic and environmental factors that contribute to the onset of common disorders. As the cost of sequencing plummets, whole genome sequencing of individuals is becoming a reality and the field of personalized genomic medicine is rapidly developing. Now there is great need for accurate annotation of all functionally important sequences in the human genome and the variations within them that contribute to health and disease. The vast majority of our genome gives rise to RNA transcripts. This extraordinarily versatile molecule not only encodes protein information but also has great structural dynamics and plasticity, capacity for DNA/RNA/protein interactions and catalytic activity. It is a key regulator of biological networks with clear links to human disease and a more comprehensive understanding of its function is needed to maximise its use in medical practice. This review focuses on the complexity of our genome and the impact of sequencing technologies in understanding its many products and functions in health and disease.
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Cite this article as:
Nicole Schonrock, Nicky Jonkhout, John S. Mattick , Seq and You Will Find, Current Gene Therapy 2016; 16 (3) . https://dx.doi.org/10.2174/1566523216666160524144159
DOI https://dx.doi.org/10.2174/1566523216666160524144159 |
Print ISSN 1566-5232 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5631 |
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Programmed Cell Death (PCD) is recognized as a pivotal biological mechanism with far-reaching effects in the realm of cancer therapy. This complex process encompasses a variety of cell death modalities, including apoptosis, autophagic cell death, pyroptosis, and ferroptosis, each of which contributes to the intricate landscape of cancer development and ...read more
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