Next-generation DNA sequencing techniques

Abstract

Next-generation high-throughput DNA sequencing techniques are opening fascinating opportunities in the life sciences. Novel fields and applications in biology and medicine are becoming a reality, beyond the genomic sequencing which was original development goal and application. Serving as examples are: personal genomics with detailed analysis of individual genome stretches; precise analysis of RNA transcripts for gene expression, surpassing and replacing in several respects analysis by various microarray platforms, for instance in reliable and precise quantification of transcripts and as a tool for identification and analysis of DNA regions interacting with regulatory proteins in functional regulation of gene expression. The next-generation sequencing technologies offer novel and rapid ways for genome-wide characterisation and profiling of mRNAs, small RNAs, transcription factor regions, structure of chromatin and DNA methylation patterns, microbiology and metagenomics. In this article, development of commercial sequencing devices is reviewed and some European contributions to the field are mentioned. Presently commercially available very high-throughput DNA sequencing platforms, as well as techniques under development, are described and their applications in bio-medical fields discussed.

Evaluation of next-generation sequencing software in mapping and assembly

“…1, 62 Their advantages in speed and cost 62 and their higher capabilities in detecting divergent types of variants 56,[59][60][61]63 granted their wide applications in the field of medical research and diagnostics. 64 Moreover, genomics, 64 functional genomics, 9 proteomics, 64 transcriptome analysis, 65 epigenetic research 66 and the characterization of new virus 67 and bacterium 68,69 all benefited from these technologies immediately after their introduction into the market.…”

Graphene nanodevices for DNA sequencing

“…The need for cheaper and faster techniques drove both scientists and companies to work on new sequencing technologies [3,4]. Second-generation sequencers involved in-vitro amplification of DNA strands and their clustering onto dedicated surfaces as well as sequencing-by-synthesis [5], where fluorescently tagged nucleotides are included by a polymerase, which enables to instantly read off a signal for each base. These improvements substantially increased the degree of parallelism and reduced reagent volumes, leading to much faster and cheaper sequencing.…”

Molecular genetic tools for environmental monitoring of New Zealand's aquatic habitats, past, present and the future

“…The recent arrival of next-generation sequencing (NGS) has drastically modified scientific approaches in basic, applied and clinical research (Ansorge 2009;Metzker 2010;Richardson 2010). The major advance offered by NGS is the ability to produce enormous volumes of sequence (DNA or RNA) data cheaply, allowing for rapid sequencing of entire genomes or transcriptomes, respectively.…”