Development of a software for the integrative analysis of DNA copy number changes

• Applicant: Dr. Reinhard Ullmann
• Subject Area: Human Genetics
• Term: from 2010 to 2015
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 167979339

The phenotypic consequences of DNA copy number variants (CNVs) are considerably variable. This hampers their use as diagnostic and prognostic markers. With our software we want to ease the interpretation of CNVs by enabling the combinatory analysis of genetic and epigenetic changes. While the focus of the ongoing project is on the analysis of DNA array based data, in the project applied now we want to concentrate our efforts on the analysis of next generation sequencing data. Users lacking programming skills should be enabled to analyze and visualize the results of such high throughput experiments and to interpret these results together with array based datasets generated in their own lab. We want to implement established algorithms that allow the identification of CNVs and chromatin modifications by the sequencing depth within NGS experiments. Heatmaps shall facilitate the clear display of results and cluster algorithm shall highlight similarities between cases. Statistical methods will be implemented to identify concurrent aberrations in order to identify possible synergistically effects.

• DFG Programme: Research Grants