A new holistic genome viewer for molecular genetics

The new tools used to explore the human genome produce an enormous amount of data. This data has to be processed and converted to comprehensible, cytogenetic views. The current options in the genome browsers like Ensemble (Cytoview) and UCSC are not designed for the complex relationships we have to visualize. Next to this “static” data, there is a huge amount of data coming from genome-wide experiments like arrayCGH or very specific data from QF-PCR and FISH. To get a better understanding and or interpretation of all kind of data we need new sophisticated tools tailor made to suit for every genome level, from chromosome to protein. At the Erasmus MC, the Departments of Cytogenetics, Cell-Biology and Bioinformatics are working together to define, explore and make programs for a new generation 2D and 3D genome viewers which can be customised for special data visualizations. Starting with all the public data available today we have made an attractive 2D and 3D viewer for cytogenetic purposes. The visualization of duplicons and pseudogenes and there role in the occurrence of mutations and rearrangements is our first challenge, mainly because there are thousands of inter- and intra-chromosomal relationships through the whole genome. Second, the viewers can give you a better insight for the selection of cytogenetic assays, and the occurrence of polymorphisms in the arrayCGH