01696nas a2200193   4500008004100000245009300041210006900134300001000203490000600213520105200219653001501271100001401286700001701300700002401317700001601341700002401357700001501381856010601396       2007                        eng d00aFunctional profiling and gene expression analysis of chromosomal copy number alterations0 aFunctional profiling and gene expression analysis of chromosomal  a432-50 v13 a<p>Contrarily to the traditional view in which only one or a few key genes were supposed to be the causative factors of diseases, we discuss the importance of considering groups of functionally related genes in the study of pathologies characterised by chromosomal copy number alterations. Recent observations have reported the existence of regions in higher eukaryotic chromosomes (including humans) containing genes of related function that show a high degree of coregulation. Copy number alterations will consequently affect to clusters of functionally related genes, which will be the final causative agents of the diseased phenotype, in many cases. Therefore, we propose that the functional profiling of the regions affected by copy number alterations must be an important aspect to take into account in the understanding of this type of pathologies. To illustrate this, we present an integrated study of DNA copy number variations, gene expression along with the functional profiling of chromosomal regions in a case of multiple myeloma.</p>10ababelomics1 aConde, L.1 aMontaner, D.1 aBurguet-Castell, J.1 aTarraga, J.1 aAl-Shahrour, Fatima1 aDopazo, J.  uhttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1759793501792nas a2200217   4500008004100000245012200041210006900163300001000232490000700242520078800249653013601037653016501173100001401338700001701352700002401369700001601393700002001409700002401429700001501453856010601468       2007                        eng d00aISACGH: a web-based environment for the analysis of Array CGH and gene expression which includes functional profiling0 aISACGH a webbased environment for the analysis of Array CGH and   aW81-50 v353 aWe present the ISACGH, a web-based system that allows for the combination of genomic data with gene expression values and provides different options for functional profiling of the regions found. Several visualization options offer a convenient representation of the results. Different efficient methods for accurate estimation of genomic copy number from array-CGH hybridization data have been included in the program. Moreover, the connection to the gene expression analysis package GEPAS allows the use of different facilities for data pre-processing and analysis. A DAS server allows exporting the results to the Ensembl viewer where contextual genomic information can be obtained. The program is freely available at: http://isacgh.bioinfo.cipf.es or within http://www.gepas.org.10aAnimals Cluster Analysis Computational Biology/*methods Computer Graphics Gene Expression Profiling/*methods Humans Internet Models10aGenetic *Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis/*methods Programming Languages *Software Systems Integration User-Computer Interface1 aConde, L.1 aMontaner, D.1 aBurguet-Castell, J.1 aTarraga, J.1 aMedina, Ignacio1 aAl-Shahrour, Fatima1 aDopazo, J.  uhttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17468499