DR-535 An integrative framework to infer candidate synthetic lethal genetic interactions in Dutch cancer genomes

The objective of this study is to infer candidate genetic interactions (combinations of two mutated genes with advantageous or synthetic lethal effect) in cancer genomes to uncover new therapeutic targets and cancer biology. The inference of genetic interactions is performed by a variant-integration framework we are developing and currently testing by only using pediatric cancer genome WGS and RNA-Seq data from the Princess Máxima Centre for pediatric oncology. This framework tests mutated genes and utilizes and integrates all types of gene variants; SNVs, indels, SVs, CNVs, and gene-fusions to leverage a more comprehensive representation of the genomic landscape and increase finding candidate genetic interactions.

Patrick Kemmeren, Prinses Maxima Centrum, The Netherlands