Challenges of Detecting Copy Number Variants and Runs of Homozygosity on a Single Array

26 Mar 2013

In constitutional genetics research, analysis of single nucleotide polymorphisms (SNPs) provides invaluable insight into a number of conditions. When analyzed in conjunction with copy number variation (CNV) data from array comparative genomic hybridization (aCGH) arrays, this insight can aid in the identification of additional genetic variants to those yielded by the CNV data alone. This review explores the various applications of combined arrays, the challenges faced in their implementation and their many advantages such as the easy to interpret, flexible data they provide.

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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.Microarray AnalysisMicroarrays, also known as biochips, are used for the detection and analysis of multiple genes, proteins, antibodies, or biomarkers on a single microchip. This can reveal information on protein or gene expression, single nucleotide polymorphism (SNP), copy number variation (CNV), epigenetics and patient health in clinical diagnostic tests. Discover a range of microarray scanners and prefabricated antibody, protein, RNA and DNA microarrays for your analysis or consider creating your own custom microarrays with a microarray printer. Find the best microarray products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.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.Gene Expression and Molecular CloningMolecular cloning is a set of techniques that utilizes vectors to transfer recombinant DNA into host cells and is an essential tool for investigating the expression of genes and proteins in bacterial or mammalian cells. A variety of vectors optimized for gene cloning and expression in a range of host organisms are available, alongside competent cells for genetic replication. Here, you can explore a range of molecular tools, high-quality genomic and cDNA libraries, premade clones, transformation and transfection reagents and mutagenesis or gene expression detection assays and expression arrays. Find the best gene expression and molecular cloning products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Copy Number VariationLoss of HeterozygosityGenetic VariationSNP Genotyping
Challenges of Detecting Copy Number Variants and Runs of Homozygosity on a Single Array