Bioinformatics Seminars

Bioinformatics Seminar

Time: 11AM
Venue: Zoom Webinar

1 June 2021

New methods for analysing transcriptomes in cancer and rare disease

Alicia Oshlack
Peter Mac

Many diseases are caused by mutations in the genome. Cancer is a disease which arises from an accumulation of mutations at a range of scales from single nucleotides to chromosomal rearrangements. The functional consequences of mutations can be transcribed into RNA and detected through transcriptome sequencing. We use transcriptome sequencing to discover the causes and consequences of disease in a variety of context.

In cancer, we can use gene expression profiles to classify tumours into prognostic groups to inform clinical treatments. Events that alter the function of genes by driving novel transcript structures can also be detected using RNA sequencing and we have been working on methods and approaches for this with traditional RNA-seq. In addition, we are working on the analysis of the transcriptome with long read sequencing to give deeper insights into cancer specific transcripts such as fusion genes.

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