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下一代测序相关原理
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Abstract:
下一代测序Next-generation sequencing (NGS)技术是目前人类和动物基因组学研究领域最热门的话题，随着高通量测序机器的不断发展和现代生物信息学工具的迅猛进步，下一代测序在对于DNA和RNA的检测方面有了突出的进展。自2005年以来，NGS技术与DNA测序、RNA测序相结合，应用于全基因组基因分型、全基因组结构变异、基因组的从头组装和重新组装、突变检测和载体筛选、遗传性疾病和复杂人类疾病的检测。本文旨在研究学习下一代测序的技术原理，以便于更加灵活地使用这项技术。
Next-Generation Sequencing (NGS) technology is currently the hottest topic in the field of human and animal genomics research. With the continuous development of high-throughput sequencing machines and the rapid progress of modern bioinformatics tools, outstanding progress of the next- generation sequencing has been made in DNA and RNA detection. Since 2005, NGS technology has been combined with DNA sequencing and RNA sequencing to be applied to the whole genome genotyping, genome-wide structural variation, de novo assembling and re-assembling of genome, mutation detection and carrier screening, detection of inherited disorders and complex human diseases. The purpose of this paper is to study and learn the technical principles of the next-generation sequ- encing, so as to use this technology more flexibly.
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