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首页> 外文期刊>Nature clinical practice. Rheumatology >Primer: genomic and proteomic tools for the molecular dissection of disease.
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Primer: genomic and proteomic tools for the molecular dissection of disease.

机译：引物：用于疾病分子解剖的基因组和蛋白质组学工具。

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Completion of the Human Genome Project has been rapidly followed by the emergence of high-throughput technologies that combine automation, miniaturization, and many other strategies and tools to enable systematic surveys of genome composition and gene expression. Of particular relevance to the prevention and management of disease are technologies such as high-throughput DNA genotyping, microarray-based gene-expression profiling, and mass spectrometry-facilitated protein profiling--platforms that collectively support the comprehensive analysis of DNA sequence variants across the genome and the global gene and protein expression changes that distinguish health from disease. Now used extensively in all facets of biomedical investigation, genomic and proteomic tools are already beginning to pinpoint molecular variants that influence risk and outcome in common diseases, and to thereby inform and direct development of novel molecular biomarkers and drug targets. As evidenced by recent advances in DNA sequencing methods, continued improvements in the scope, power, and cost efficiency of genomic and proteomic technologies should ensure their capacity to provide the scale and depth of knowledge required for translating genome sequence information into major medical impact.
机译：完成人类基因组计划之后，紧随其后的是高通量技术的出现，这些技术结合了自动化，小型化以及许多其他策略和工具，可以对基因组组成和基因表达进行系统的调查。与疾病的预防和管理特别相关的是诸如高通量DNA基因分型，基于微阵列的基因表达谱分析以及质谱辅助的蛋白谱分析等技术，这些平台共同支持对整个DNA序列变体的全面分析。基因组以及全球基因和蛋白质表达变化将健康与疾病区分开来。现在，基因组学和蛋白质组学工具已广泛应用于生物医学研究的各个方面，已经开始查明影响常见疾病风险和结果的分子变异，从而为新型分子生物标记物和药物靶标提供信息和指导。正如DNA测序方法的最新进展所证明的，基因组和蛋白质组学技术的范围，功能和成本效率的不断提高，应确保其提供将基因组序列信息转化为重大医学影响所需的知识的规模和深度的能力。

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