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Comparison of Custom Designed KASP and TaqMan Genotyping Assays for a Rare Genetic Variant Identified Through Resequencing GWAS Loci
14 Jan 2016A next-generation sequencing (NGS) study was undertaken to uncover rare variants surrounding the gene loci associated with the complex neurodegenerative dementia Alzheimer’s disease. Following functional annotation with in silico databases, several variants were prioritized for direct genotyping in case and control samples to gather further support for their potential role as the functional variant responsible for the GWAS signal. This application note evaluates the effectiveness of two genotyping technologies, TaqMan and KASP, for successful design of custom genotyping assays for one of the rare deleterious missense coding variants identified in the NGS study.
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Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.SNPs TechnologySingle nucleotide polymorphisms (SNPs) are individual base variations in a DNA sequence. SNPs are used in research to study predispositions to disease and drug discovery. Products for studying single nucleotide polymorphisms include SNP arrays and detection systems to detect polymorphisms, SNP typing systems for genotyping DNA, and PCR to amplify specific SNPs.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.Alzheimers ResearchAlzheimer�s disease is a neurodegenerative condition characterized by progressive memory loss and cognitive decline. Research focuses on understanding the molecular and cellular mechanisms of the disease, as well as developing effective treatments and diagnostic tools. Browse our peer-reviewed product directory to find the best Alzheimer�s research products, compare options, check reviews, and get pricing directly 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.SNP GenotypingGenotyping