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Sven Haag, Daniel Nowak, W.-K. Hofmann, Markus Gumbel (Department of Hematology and Oncology, University Medical Centre Mannheim, Germany; Institute for Medical Informatics, University of Applied Sciences Mannheim, Germany)
Analysing Copy Number Variations (CNVs) from unpaired SNP-Chip samples is a very time consuming task. The analyst has to check every single CNV for polymorphisms, genes or gene breakpoints occuring in that region. This manual process is non deterministic as it can lead to different results when analyzed by different persons. To improve this process in efficiency and effectiveness and to achive a more objective result we developed this application. This application provides a table that shows all CNVs, as identified by CNAG, sorted by an automatically calculated score. The score combines information from the “Database of Genomic Variants" and the "UCSC Genome Browser Database" with medical knowldege and indicates a probability like value that helps the analyst to identify quickly the most interesting CNVs.