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Chen Hong, Robin Thiele, Lars Feuerbach ( German Cancer Research Center (DKFZ), Heidelberg, Germany)
Analysis of focal copy number variations (CNVs) is highly relevant for cancer research, as they pinpoint driver genes. More specifically, oncogenes and tumor suppressor genes are more often affected by these events than neighbouring passenger. Furthermore, detection of multi-genic minimally deleted regions enable the detection of synergistic co-mutations. The study of focal CNVs in large cancer genome cohorts helps us understand cancer genomic mechanisms and discover potential cancer driver genes. In this study, we developed the GenomeTornadoPlot R-package which efficiently visualizes the locations, lengths and types of CNV of genes from cohortwise NGS data. Furthermore, the software enables the pairwise comparison of genes on the same chromosome to identify co-mutation patterns or identify driver-passenger hierarchies. The visual analysis is supported by the computation adaptable focality scores.