13. Bioinformatics and interpretation for clinical reporting of an integrated whole genome and transcriptome assay

Whole genome and transcriptome sequencing (WGTS) enables comprehensive detection of cancer genome variation from a single cancer specimen, however, clinical reporting of these assays is challenged by the need for significant computational infrastructure and breadth of genomic algorithms needed for analysis. Here, we report on the deployment of a clinical bioinformatics process for comprehensive genomic profiling of a patient's tumour.