CGH-Profiler: Data mining based on genomic aberration profiles

Background: CGH-Profiler is a program that supports the analysis of genomic aberrations measured by Comparative Genomic Hybridisation (CGH). Comparative genomic hybridisation (CGH) is a well-established, molecular cytogenetic method that allows the detection of chromosomal imbalances in entire genomes. This technique is widely used in routine molecular diagnostics. Typically, chromosomal imbalances are described in a complex syntax based on the International Standard for Cytogenetic Nomenclature (ISCN). This semantic description of chromosomal imbalances hinders a large-scale statistical analysis across different experiments, e.g. for finding aberration patterns associated with a particular disease type or state. Results: CGH-Profiler circumvents the semantic ISCN description by importing data from different CGH system vendors and by directly transferring the data into a table format that is readily accessible for subsequent statistical analysis. CGH-profiler comes with different cons...

• Type: Journal
• Year: 2005
• Where: BMCBI
• Authors: Falk Schubert, Bernhard Tausch, Stefan Joos, Roland Eils
• Keywords: BMCBI 2005, Chromosomal Imbalances, Comparative Genomic Hybridisation, Molecular Cytogenetic Method