Sequencing technologies and genome sequencing
Top Cited Papers
Open Access
- 23 June 2011
- journal article
- review article
- Published by Springer Nature in Journal of Applied Genetics
- Vol. 52 (4) , 413-435
- https://doi.org/10.1007/s13353-011-0057-x
Abstract
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.Keywords
This publication has 148 references indexed in Scilit:
- Transcriptome Profiling Using Single-Molecule Direct RNA SequencingPublished by Springer Nature ,2011
- Comprehensive Polyadenylation Site Maps in Yeast and Human Reveal Pervasive Alternative PolyadenylationCell, 2010
- Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar AtaxiaAmerican Journal of Human Genetics, 2010
- Identification of Causal Sequence Variants of Disease in the Next Generation Sequencing EraPublished by Springer Nature ,2010
- Next-generation sequencing: the solution for high-resolution, unambiguous human leukocyte antigen typingHuman Immunology, 2010
- Neurogenetics: Advancing the “Next-Generation” of Brain ResearchNeuron, 2010
- Use of cancer‐specific genomic rearrangements to quantify disease burden in plasma from patients with solid tumorsGenes, Chromosomes and Cancer, 2010
- RNA‐Seq: A Method for Comprehensive Transcriptome AnalysisCurrent Protocols in Molecular Biology, 2010
- RNA-seq: from technology to biologyCellular and Molecular Life Sciences, 2009
- Next-generation sequencing of vertebrate experimental organismsMammalian Genome, 2009