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DNA 测序技术的十年展望。

A decade's perspective on DNA sequencing technology.

机构信息

The Genome Center at Washington University School of Medicine, Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA.

出版信息

Nature. 2011 Feb 10;470(7333):198-203. doi: 10.1038/nature09796.

DOI:10.1038/nature09796
PMID:21307932
Abstract

The decade since the Human Genome Project ended has witnessed a remarkable sequencing technology explosion that has permitted a multitude of questions about the genome to be asked and answered, at unprecedented speed and resolution. Here I present examples of how the resulting information has both enhanced our knowledge and expanded the impact of the genome on biomedical research. New sequencing technologies have also introduced exciting new areas of biological endeavour. The continuing upward trajectory of sequencing technology development is enabling clinical applications that are aimed at improving medical diagnosis and treatment.

摘要

人类基因组计划结束后的十年见证了测序技术的惊人爆炸式发展,使得人们能够以前所未有的速度和分辨率提出并回答大量有关基因组的问题。在这里,我将举例说明这些信息如何增强了我们的知识,并扩大了基因组对生物医学研究的影响。新的测序技术也为生物研究领域带来了令人兴奋的新方向。测序技术的持续发展为改善医疗诊断和治疗的临床应用提供了可能。

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Charting a course for genomic medicine from base pairs to bedside.为基因组医学绘制从碱基对到床边的路线图。
Nature. 2011 Feb 10;470(7333):204-13. doi: 10.1038/nature09764.
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Initial impact of the sequencing of the human genome.人类基因组测序的初步影响。
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The origin of the Haitian cholera outbreak strain.海地霍乱疫情暴发菌株的起源。
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Enhancing fever of unknown origin diagnosis: machine learning approaches to predict metagenomic next-generation sequencing positivity.提高不明原因发热的诊断水平:采用机器学习方法预测宏基因组下一代测序阳性结果
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Non-coding RNAs, a double-edged sword in breast cancer prognosis.非编码RNA,乳腺癌预后中的一把双刃剑。
Cancer Cell Int. 2025 Apr 1;25(1):123. doi: 10.1186/s12935-025-03679-0.
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Unraveling the Mysteries of Sleep: Exploring Phylogenomic Sleep Signals in the Recently Characterized Archaeal Phylum Lokiarchaeota near Loki's Castle.揭开睡眠之谜:探索位于洛基城堡附近新发现的古菌门洛基古菌中的系统发育睡眠信号。
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Perspectives on Microbiome Therapeutics in Infectious Diseases: A Comprehensive Approach Beyond Immunology and Microbiology.传染病中微生物组疗法的展望:超越免疫学和微生物学的综合方法。
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Sensing Hachimoji DNA Bases with Janus MoSH Monolayer Nanodevice: Insights from Density Functional Theory (DFT) and Non-Equilibrium Green's Function Analysis.使用Janus MoSH单层纳米器件传感八碱基DNA碱基:来自密度泛函理论(DFT)和非平衡格林函数分析的见解
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Diversity of human copy number variation and multicopy genes.人类拷贝数变异和多拷贝基因的多样性。
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