APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation

被引:4354
作者
Metzker, Michael L. [1 ,2 ,3 ]
机构
[1] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[3] LaserGen Inc, Houston, TX 77054 USA
关键词
SHORT-READ; STRUCTURAL VARIATION; GENOME SEQUENCE; MULTIPLEX AMPLIFICATION; REVERSIBLE TERMINATORS; DNA-SYNTHESIS; EXON CAPTURE; SCALE; IDENTIFICATION; NUCLEOTIDE;
D O I
10.1038/nrg2626
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Demand has never been greater for revolutionary technologies that deliver fast, inexpensive and accurate genome information. This challenge has catalysed the development of next-generation sequencing (NGS) technologies. The inexpensive production of large volumes of sequence data is the primary advantage over conventional methods. Here, I present a technical review of template preparation, sequencing and imaging, genome alignment and assembly approaches, and recent advances in current and near-term commercially available NGS instruments. I also outline the broad range of applications for NGS technologies, in addition to providing guidelines for platform selection to address biological questions of interest.
引用
收藏
页码:31 / 46
页数:16
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