Sequencing technologies and genome sequencing.
Sequencing technologies and genome sequencing.
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DOI：
10.1007/s13353-011-0057-x
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发表时间：
2011-11
影响因子：
2.4
通讯作者：
Tretyn, Andrzej
中科院分区：
文献类型：
--
作者：
Pareek, Chandra Shekhar;Smoczynski, Rafal;Tretyn, Andrzej
关键词：
高通量下一代测序（HT-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，与基于桑格法的最先进的毛细管测序仪相比，它可以产生超过100倍的数据。随着高通量测序机的不断发展和现代生物信息学工具以前所未有的速度进步，以每个生物体基因组测序成本 1,000 美元的目标在不久的将来似乎是现实可行的。自 2005 年以来相对较短的时间内，HT-NGS 技术通过染色质免疫沉淀分析与 DNA 微阵列 (ChIP-chip) 或测序 (ChIP-seq)、RNA 测序 (RNA-seq)、全基因组基因分型、全基因组结构变异、基因组从头组装和重新组装，正在彻底改变人类和动物基因组研究， 突变检测和载体筛选、遗传性疾病和复杂人类疾病检测、DNA 文库制备、配对末端和基因组捕获、线粒体基因组测序和个人基因组学。在这篇综述中，我们讨论了 HT-NGS 的重要特征，如第一代 DNA 测序仪、HT-NGS 的诞生、第二代 HT-NGS 平台、第三代 HT-NGS 平台：包括单分子 Heliscope™、SMRT™ 和 RNAP 测序仪、Nanopore、Archon Genomics X PRIZE 基金会、第二代和第三代 HT-NGS 平台的比较、应用、进展和未来展望 人类和动物基因组研究的测序技术。
The high-throughput - next generation sequencing (HT-NGS) technologies are currently the hottest topic in the field of human and animals genomics researches, which can produce over 100 times more data compared to the most sophisticated capillary sequencers based on the Sanger method. With the ongoing developments of high throughput sequencing machines and advancement of modern bioinformatics tools at unprecedented pace, the target goal of sequencing individual genomes of living organism at a cost of $1,000 each is seemed to be realistically feasible in the near future. In the relatively short time frame since 2005, the HT-NGS technologies are revolutionizing the human and animal genome researches by analysis of chromatin immunoprecipitation coupled to DNA microarray (ChIP-chip) or sequencing (ChIP-seq), RNA sequencing (RNA-seq), 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, DNA library preparation, paired ends and genomic captures, sequencing of mitochondrial genome and personal genomics. In this review, we addressed the important features of HT-NGS like, first generation DNA sequencers, birth of HT-NGS, second generation HT-NGS platforms, third generation HT-NGS platforms: including single molecule Heliscope™, SMRT™ and RNAP sequencers, Nanopore, Archon Genomics X PRIZE foundation, comparison of second and third HT-NGS platforms, applications, advances and future perspectives of sequencing technologies on human and animal genome research.
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影响因子：
3.7
作者：
Bornmann L;de Moya Anegón F;Leydesdorff L
通讯作者：
Leydesdorff L
影响因子：
4.4
作者：
Bowne, Sara J.;Sullivan, Lori S.;Daiger, Stephen P.
通讯作者：
Daiger, Stephen P.
影响因子：
3
作者：
Bright, Lauren A.;Burgess, Shane C.;McCarthy, Fiona M.
通讯作者：
McCarthy, Fiona M.
DOI：
10.1016/0165-022x(86)90038-2
发表时间：
1986-12-01
影响因子：
--
作者：
ANSORGE, W;SPROAT, BS;SCHWAGER, C
通讯作者：
SCHWAGER, C
影响因子：
64.8
作者：
Collins, FS;Green, ED;Guyer, MS
通讯作者：
Guyer, MS