Nature sub-journal: Scientists develop new tool for tumor fusion gene prediction

Cancer is driven by genetic alterations that include small variants such as single nucleotide substitutions, small insertions and deletions, and large structural variations (SVs)
.
SVs can cause the expression of gene fusions, thereby promoting the occurrence and development of tumors
.
Recently, a research team from the University of Mainz in Germany published an article entitled "Accurate detection of tumor-specific gene fusions reveals strongly immunogenic personal neo-antigens" in "Nature Biotechnology", and developed a set of predicting clinical tumor sample-specific genes.
Fusion's new tool EasyFuse
.

The researchers first used 17 existing fusion gene analysis tools to predict 52 known fusion genes in the cell lines MCF7 and SKBR3.
The results found that the existing analysis tools did not predict well, and only 5 tools met the author's design.
the minimum standard set
.
The analytical tools currently used ignore the identification rate of a single tool, and the sensitivity is reduced
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To improve the prediction efficiency of tumor-associated fusion genes, the researchers developed the EasyFuse system
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The system initially filters only inconsistent read pairs, which can reduce reads by more than 90%, shorten runtime, and improve computational performance, sensitivity, and accuracy
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The EasyFuse system can predict fusion genes for various types of samples, and the predicted fusion genes are independent of tumor type or content
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Based on the prediction results of the EasyFuse system, the researchers analyzed and verified the relevance of the fusion gene encoding as a neoantigen
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This study provides a better technology and platform for the prediction of tumor-related fusion genes
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At the same time, this study also shows that fusion genes can provide abundant tumor-associated antigens, providing a new strategy for personalized immunotherapy for patients
.

Paper link:

https://doi.
org/10.
1038/s41587-022-01247-9

Note: This research result is excerpted from the journal "Nature biotechnology".
The content of the article does not represent the views and positions of this website and is for reference only
.