ResourceLife Sciences
Target Specific Enrichments Combined with Next-Generation Sequencing Revolutionizes the Analysis of Human Exomes
24 Oct 2013Exomes consist of all genomic regions coding for proteins and the untranslated regions (UTRs) flanking them. Next Generation Sequencing (NGS) has changed possibilities for analyzing exomes. A method which allows the discovery of relevant genetic variants at a lower cost is exome enrichment. This white paper shows the development of an efficient workflow for the evaluation of exome enrichment methods that are more effective than whole genome sequencing for researching some scientific questions. It is expected that exome sequencing will be utilized in clinical and genetic diagnostics and personalized disease risk profiling in the near future.
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DNA SequencingDNA sequencing, such as sanger sequencing, is a biological technique that determines the precise order of nucleotide bases in a fragment or template of DNA. DNA sequencers and genetic analyzers are based on capillary electrophoresis, where labeled DNA fragments are electrophoretically separated by size as they migrate through a polymer. Find the best DNA sequencing products, including DNA sequencing kits, genomic libraries and genetic identity kits in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Clinical NGSNext Generation Sequencing (NGS) refers to the use of massive parallel sequencing of multiple small fragments of DNA. This high-throughput genomic analysis yields enormous amounts of sequence data, which if appropriately analyzed could have huge potential for clinical laboratories. For this to happen there are technique and bioinformatic hurdles to be overcome.ExomesGenome SequencingGenome sequencing involves determining the complete DNA sequence of an organism's genome. It provides crucial information about genetic variations, mutations, and diseases. Advances in sequencing technologies, such as next-generation sequencing (NGS), have accelerated research in genomics, diagnostics, and personalized medicine. Explore genome sequencing tools in our peer-reviewed product directory; compare products, check reviews, and get pricing directly from manufacturers.Brazil