Computational Modelling Group

Application of RNA-Seq for gene fusion identification in blood cancers

1st October 2012
Research Team
Marcin Knut
William Tapper

The development of Next Generation Sequencing (NGS) revolutionised different fields of science. RNA-Seq, a variety of NGS, is a method of transcriptome investigation, and a valuable tool in aberrant transcript identification. As such, it can be used to identify gene fusions in various types of cancers, regardless of whether they are the underlying cause of cancer or the result of it. Gene fusions are associated with many types of blood cancers, and accurate determination of them leads to correct diagnosis and appropriate choice of treatment.

Our aim is to design and apply software for analysis of RNA-Seq data, allowing for accurate detection of gene fusions. We are focusing primarily on gain-of-function type of gene fusions in malignancies of myeloid blood lineage.


Life sciences simulation: Bioinformatics, Biomathematics, Biomedical, NextGen Sequencing

Algorithms and computational methods: Classification, statistical analysis

Visualisation and data handling methods: Data Aggregation, Data Management, Database

Software Engineering Tools: RStudio

Programming languages and libraries: C, Perl, R

Computational platforms: Iridis, Linux, NGS

Transdisciplinary tags: Scientific Computing, Software Engineering