高通量测序在临床分子诊断中的应用与展望
发布时间：2018-09-15 07:17
【摘要】：高通量测序又称下一代测序(NGS),是一种新型的遗传学筛查和诊断技术,它的不断革新加速了人们对遗传学标志物及疾病分子机制的认识,特别是针对复杂遗传性疾病。NGS技术的出现促使临床基因诊断逐渐从单基因时代跨越到多基因时代。随着靶向基因组测序、全外显子组测序以及全基因组测序项目在临床中的广泛应用,医务工作者将逐渐改变对复杂遗传性疾病的管理策略,最终将依据遗传学检测结果对每一位患者进行2次分类并给予精准治疗。另外,生物信息学分析方法的不断更新和便捷的数据分析软件包也使NGS在临床诊断中的应用更加广泛。文章中主要论述了现有NGS的主流平台、现阶段NGS在临床分子诊断中的主要应用策略以及应用NGS检测序列变异的数据分析方法。
[Abstract]:High-throughput sequencing, also known as next-generation sequencing (NGS), is a new genetic screening and diagnosis technology, and its continuous innovation has accelerated the understanding of genetic markers and molecular mechanisms of disease. Especially, the emergence of complex genetic disease. NGS technology promotes clinical gene diagnosis from single gene era to multi gene era. With the wide application of targeted genome sequencing, total exon sequencing and whole-genome sequencing projects in clinical practice, medical workers will gradually change their management strategies for complex genetic diseases. Each patient will eventually be classified twice and given accurate treatment based on genetic results. In addition, the continuous updating of bioinformatics analysis methods and convenient data analysis software also make NGS more widely used in clinical diagnosis. This paper mainly discusses the mainstream platform of NGS, the main application strategy of NGS in clinical molecular diagnosis and the data analysis method of detecting sequence variation with NGS.
【作者单位】： 哈尔滨医科大学附属第四医院检验科;
【分类号】：R440
本文编号：2244154
[Abstract]:High-throughput sequencing, also known as next-generation sequencing (NGS), is a new genetic screening and diagnosis technology, and its continuous innovation has accelerated the understanding of genetic markers and molecular mechanisms of disease. Especially, the emergence of complex genetic disease. NGS technology promotes clinical gene diagnosis from single gene era to multi gene era. With the wide application of targeted genome sequencing, total exon sequencing and whole-genome sequencing projects in clinical practice, medical workers will gradually change their management strategies for complex genetic diseases. Each patient will eventually be classified twice and given accurate treatment based on genetic results. In addition, the continuous updating of bioinformatics analysis methods and convenient data analysis software also make NGS more widely used in clinical diagnosis. This paper mainly discusses the mainstream platform of NGS, the main application strategy of NGS in clinical molecular diagnosis and the data analysis method of detecting sequence variation with NGS.
【作者单位】： 哈尔滨医科大学附属第四医院检验科;
【分类号】：R440
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