Identification and Comparison of BRCA1 and BRCA2 Variants

7 May 2013

Combined use of Mutiplicom’s BRCA MASTR assay with Ion Torrent’s sequencing technology and data analysis using CLC Genomics Workbench results in high sensitive and specific detection and annotation of cancer relevant mutations in BRCA1 and BRCA2. This application note shows how to analyze amplicon sequencing data and identify cancer relevant variants in these two highly-studied tumor-suppressor genes using CLC Genomics Workbench.

CLC DNA Workbench Software

CLC bio

The New Standard for Desktop-Based Bioinformatics Tools CLC DNA Workbench provides a software environment which enables users to perform advanced DNA sequence analyses such as assembly of DNA sequence data, graphically and algorithmically advanced primer design, while offering user-friendly molecular cloning tools. CLC DNA Workbench is a bioinformatics software package containing a range of specialized DNA analyses and bioinformatics tools for molecular biology. It is based on the CLC Free Workbench framework, and has similar work environment, user interface, and framework for graphical viewing. When using CLC DNA Workbench, researchers working in molecular biology labs will be able to do most daily bioinformatics work, including data management and reporting, in one single integrated and user-friendly software package. Platform independent CLC DNA Workbench is from the new generation of bioinformatics software - software that also runs on the latest versions of Mac OS X, Windows, and Linux. Efficient collaboration support The full compatibility between all types of CLC workbenches provides strong support for efficient collaboration within research groups; advanced analyses and data searches can be performed on a CLC DNA Workbench, while more basic work tasks may be performed by the remaining researchers equipped with CLC Free Workbenches. Throughout the project, all researchers can be given easy access to knowledge obtained through sharing of sequence data and sharing of research results. Examples could be figures showing annotated sequences, alignments and their underlying sequences, reports on DNA characteristics, phylogenetic trees, BLAST results etc.

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Identification and Comparison of BRCA1 and BRCA2 Variants