| Summary: | <p>Abstract</p> <p>Background</p> <p><it>CGH-Profiler </it>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.</p> <p>Results</p> <p><it>CGH-Profiler </it>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. <it>CGH-profiler </it>comes with different consistency checks, calculates various statistics and automatically assigns a median copy number ratio to each chromosomal band.</p> <p>Import of CGH profiles from different CGH system vendors is already supported; its extension to other systems can be readily achieved through Perl scripts.</p> <p>CGH profiler can also be used to analyse comparative expressed sequence hybridisation (CESH) data. CESH reveals gene expression patterns according to chromosomal locations in a similar manner as CGH detects chromosomal imbalances.</p> <p>Conclusion</p> <p><it>CGH-Profiler </it>is a useful tool for processing of CGH and CESH data.</p>
|
|---|
