Next-generation sequencing: ready for the clinics?

被引：105

作者：

Desai, A. N. ^{[1
]}

Jere, A. ^{[1
]}

机构：

[1] Persistent Syst Ltd, Persistent LABS, Pune 411004, Maharashtra, India

来源：

CLINICAL GENETICS | 2012年 / 81卷 / 06期

关键词：

diagnostics; genetic; genome; next-generation sequencing; EXOME CAPTURE; ARRAY CGH; GENE; VARIANTS; CANCER; MUTATIONS; IDENTIFICATION; FUSION; QUANTITIES; DISCOVERY;

D O I：

10.1111/j.1399-0004.2012.01865.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Desai AN, Jere A. Next-generation sequencing: ready for the clinics? Next-generation sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing and increasing the throughput. Now, the focus is on using NGS technology for diagnostics and therapeutics. In this review, we discuss the possible clinical applications of NGS and the potential of some of the current systems to transition to the clinic. Clinical use of NGS technologies will enable the identification of causative mutations for rare genetic disorders through whole-genome or targeted genome resequencing, rapid pathogen screening and cancer diagnosis along with the identification of appropriate therapy. Routine clinical use of NGS technologies is appealing, but mandates high accuracy, simple assays, small inexpensive instruments, flexible throughput, short run times and most importantly, easy data analysis as well as interpretation. A number of NGS systems launched recently have least some of these characteristics, namely, small instruments, flexible throughput and short run time, but still face a few challenges. Moreover, simplified data analysis tools will need to be developed to minimize the requirement of sophisticated bioinformatics support in clinics. In summary, for successful transition of NGS to clinic, a sustained collaboration between research labs, clinical practitioners and vendors offering sequencing based genetic tests is required.

引用

页码：503 / 510

页数：8

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