DR-164 Functional annotation of the mutated regulatory landscape in glioblastoma

Glioblastoma multiforme (GBM) is the most lethal brain tumour. Mutations in certain genes have been implicated in GBM. However, the DNA sequence encoding for genes (coding regions) only represent 1% of the tumour DNA. We aim to use the whole genome sequencing (WGS) and clinical data from the Hartwig’s recurrent GBM cohort, together with other publicly available datasets, to characterise the mutations in the non-coding regions in GBM patients, and to determine if certain mutations in these regions can predict survival or response to therapy. We are particularly interested in structural variants (SVs) and require BAM/CRAM files to generate comparable new SV calls across all datasets (ie between Hartwig dataset and other datasets generated elsewhere), as we have recently for a combination of previously published and new ovarian tumour BAM files (see https://www.biorxiv.org/content/10.1101/2020.05.11.088278v1).

Colin Semple The University Court of the University of Edinburgh United Kingdom