RNAsum: Implementing patients transcriptome profiling in precision oncology setting | Dr Jacek Marzec and Dr Sehrish Kanwal

Presentation of an open source tool using RNA sequencing data from cancer patients to complement genome-based findings and aid therapeutic targets prioritisation.

Dr Jacek Marzec
Bioinformatician, Precision Oncology
University of Melbourne Centre for Cancer Research

Dr Sehrish Kanwal
Bioinformatician, Precision Oncology
University of Melbourne Centre for Cancer Research

Precision oncology is becoming a standard approach in cancer patient care, with cancer molecular characterisation through genome sequencing being the major focus. However, there is growing evidence showing that patients' transcriptome profiling is useful in complementing genome-based findings and aids in improving therapy recommendations and patient outcomes.

This talk will demonstrate RNAsum, a robust tool capable of using RNA sequencing data from cancer patients to verify and complement DNA profiling results. Our approach for incorporating transcriptome profiling into precision oncology framework, associated opportunities and challenges, as well as clinical utility will be discussed.

Reproducible and scalable technologies are transforming the way scientists and researchers translate data-driven analysis from research to clinical settings. Dr Sehrish Kanwal will join Dr Marzec to highlight the approach taken by Genomics Platform Group at UMCCR, to deploy and share whole genome/transcriptome data analysis workflows and clinical reports.

Dr Jacek Marzec is a bioinformatician in Precision Oncology group of the University of Melbourne Centre for Cancer Research. His research focuses on computational analyses and visualisation of heterogeneous sets of cancer data.

Jacek has been involved in development of bioinformatic pipelines for analysing patients transcriptome profiles and integrating these data with publicly available genome-scale data from large cohorts to enrich the knowledge about patients cancer. He has been also involved in a number of research projects exploring molecular makeup of pancreatic cancer to better understand the mechanisms of carcinogenesis and progression of this aggressive disease.

Dr Sehrish Kanwal is a Bioinformatics Scientist at Centre for Cancer Research. She has a keen interest in workflows, digital reproducibility and data-centric computational analysis methods. During her current work at UMCCR, she supports sequencing data analysis pipelines, testing and maintaining existing workflows with an emphasis on improving reporting strategies for cancer-relevant genomic and transcriptomic features.