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A new web technology helps detect cancer mutations

The research group Biomedical Genomics Pompeu Fabra University (UPF) of Spain has developed a technological tool through a web, open to the entire scientific community, to help detect cancer mutations.

The new tool is called OncoPad and design panels for cancer gene sequencing.

As they explained by the research leaders, Abel González-Pérez and Núria López-Bigas, who just joining the Institute of Biomedical Research (IRB) in Barcelona (northeast), the correct treatment and diagnosis of cancer are increasingly dependent analysis genetic patients.

In this analysis, doctors look for changes in tumor DNA, called mutations, that may have diagnostic value, prognostic or therapeutic for the disease.

In order to identify these mutations, biologists have to sequence the DNA of the tumor, either covering the entire genome, its exome (ie, the functional part of the genome) or only certain genes or gene regions, that are included in panels.

According to the researchers, sequencing through panels has advantages over the whole genome or exome because, in addition to a cost-benefit ratio better, the panels detect fewer false positives due to its higher sensitivity.

There are currently sequencing predesigned panels and marketed by several companies, but usually is unspecific panels, as they are designed to sequence any type of tumor.

cost-benefit ratio to answer specific questions, such as early diagnosis of a particular type of tumor, usually low because most of the genomic regions included are irrelevant.

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