This computational method, a pioneer in its field, has been baptized as SMUFIN ( Somatic Mutations Finder ) and has been developed by the computational genomics group of the Barcelona Supercomputing Center – Centro Nacional de Supercomputación (BSC-CNS) in collaboration with other research groups Europeans. The study has been published in the journal Nature Biotechnology .
Until now, identifying mutations responsible for the development of tumors involved a slow and complex process that also made it difficult to identify many types of mutations relevant to the tumor. With this new system, scientists are able to detect in a matter of hours any genetic alteration or change responsible for both the appearance of tumors and their development .
This method involves the analysis of the complete genome of a tumor thanks to various computer programs that are executed one after another ; each software being specialized in some type of genetic variation of the tumor. Its operation is very simple: SMUFIN directly compares the genome of healthy cells with the genome of the patient’s tumor cells, then locating any minimal variation in it. This method not only accelerates the process, but also guarantees the discovery of genetic alterations of very aggressive tumors that normally remain hidden in the analysis. In addition, its cost is considerably reduced: sequencing the genome until now had a cost of 2,000 and 3,000 euros; with this system it will drop to about 700 euros.
The new system, according to the authors, guarantees 90% accuracy in detecting virtually all types of genetic mutations . Its use will favor a more specific, cheap and reliable diagnosis for the patient (and thus also a more accurate and less invasive treatment) and the possibility of detecting mutations in hundreds and thousands of tumor genomes in just a few days.
