DR-539 Validation of RNA-seq derived mutational profiles using paired somatic and germline DNA references in multi-omics tumor profiling

This project evaluates the accuracy of computationally inferring genetic mutations directly from RNA-sequencing data. While RNA-seq is primarily used for transcriptomic profiling, extracting mutational data from it can maximize the utility of available clinical samples. By utilizing paired somatic and germline DNA data alongside RNA-seq, we will benchmark our variant-calling pipelines. This methodology will clarify the concordance between RNA-derived variants and true DNA mutations, advancing multi-omics profiling techniques and offering deeper biological insights for cancer patients without requiring parallel DNA sequencing.

Jean-Philippe Theurillat, Institute of Oncology Research, Switzerland