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Rapid Assembly and Analysis of Clinical Sequencing Data on a Desktop Computer: Using DNASTAR Software to Identify Potential Disease-Causing Mutations
13 Jun 2013
Sarah Thomas
Associate Editor
Product news
DNASTAR offers an integrated suite of software for assembling and analyzing sequence data from all major next-generation sequencing platforms. The software supports key workflows on a desktop computer, including analysis of clinical sequencing data. This poster describes the analysis of exome data from 10 individuals with Kabuki syndrome and 8 control individuals to identify potential disease-causing mutations.
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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.Data AnalysisData analysis hardware and software is available to make data processing straight-forward yet powerful. Data software can be used for math and stats, technical graphing and image analysis. In addition, software is available for specific data analysis of electrophoresis, densitometry, ELISA and DNA sequencing.Chem / BioinformaticsCheminformatics and bioinformatics are computational techniques used in chemistry and biology, respectively, for data acquisition, processing and storage. Cheminformatics focuses on compound information, whereas bioinformatics is mainly applied to analysis and modeling of genomics, genetic and sequencing information. Hardware and software is available for data acquisition, analysis, management and storage.Clinical GeneticsExomesMutationMutations are changes in the DNA sequence that can lead to diseases, including cancer and genetic disorders. Analyzing mutations is crucial in diagnostics, drug development, and personalized medicine. Explore mutation detection tools in our peer-reviewed product directory; compare products, check reviews, and get pricing directly from manufacturers.