Bioinformatics Seminar
Time: 11AM
Venue: Hybrid
14 March 2023
Increasing the clinical utility of RNA-seq in precision medicine
Chelsea MayohChildren's Cancer Institute
The ZERO Childhood Cancer Precision Medicine Program (ZERO) integrates whole genome sequencing, transcriptome sequencing and methylation array to provide an integrated multi-omics’ pipeline to improve treatment outcome for high-risk paediatric cancer patients. The development of a comprehensive RNA-seq pipeline called Carbonite has increased the functional interpretation of DNA mutations and identifies 90% of driver mutations in high-risk paediatric cancer. Through utilising RNA-seq in precision medicine, we can provide predicted function and pathogenicity assessment and resolve the transcriptional consequence of DNA aberrations. Furthermore, through integrating Carbonite with WGS and methylation we can delineate novel molecular subtypes of disease and unravel the tumour immune microenvironment providing personalised therapeutic recommendations.