测序技术从第1代发展至今的第4代,读长从长到短,又再由短至长.每一次技术进步都有力地促进了生命科学和临床医学研究的发展.其中高通量测序又称下一代测序(next generation sequencing,NGS)技术即二代测序技术因其通量大、精确度高且信息量丰富,不同的测序平台在通量、读长、准确度、速度和成本方面各具优势,在基因组从头测序、重测序、转录组及表观遗传学研究中发挥了重要作用.近年来,NGS的数据产出一直呈现出指数增长的趋势,并逐渐应用于个性化医疗和遗传诊断等临床服务.NGS在临床肿瘤的研究与检测中也显示出巨大的市场价值,但是在此背后却同时存在着一定程度的风险,不得不引起我们的重视和警惕.%Sequencing technology has been developed from the 1st generation to the 4th one,and the length of reads is from long to short and from short to long again. Its progress has promoted the development of life science and clinical medical research. Next generation sequencing (NGS) technology has high flux,high accuracy and huge quantity of information. Different sequencing platforms have their own advantages in flux,length of reads, accuracy,speed and cost. They play important roles in de novo genome sequencing,resequencing,transcriptome and apparent genetics. In recent years,the datum output of NGS shows the trend of exponential growth,and has been gradually applied to clinical services,such as personalized medicine and genetic diagnosis. NGS in clinical oncology research and determination also shows a huge market value,but at the same time it hides certain degree of risk, which should be paid great attention and vigilance.
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