Bioinformatics Seminars

Bioinformatics Seminar

Time: 11AM
Venue: Hybrid

14 March 2023

Increasing the clinical utility of RNA-seq in precision medicine

Chelsea Mayoh
Children'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.

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