Venere Sabrina Barrese
Data integration for the analysis of the oncogenic potential of gene fusions.
Rel. Elisa Ficarra, Marta Lovino. Politecnico di Torino, Master of science program in Biomedical Engineering, 2020
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Abstract
The cells' life cycle is strictly related to the DNA replication and transcription. Under certain conditions the DNA may break and create aberrant products known as gene fusions. A gene fusion is made up of two genes, usually coming from different chromosomes and called gene pairs. After the breaking event, a portion of both genes can be lost, and the point in which each gene breaks is known as breakpoint. Gene fusions have been proven to be related to certain types of cancers, and in this case they are defined as driver gene fusions. Gene fusion detection tools are commonly used to identify gene fusions in a biological sample.
However, these tools detect a high number of putative fusions in tumor samples and sometimes do not confidently label them as oncogenic
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