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The democratization of genetic analysis

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Bioinformatics is a relatively new area whose origin dates back to the second decade of the 20th century. Since then, it has been developing more and more and the potential of its interdisciplinary applications is practically unattainable. In essence, it consists of applying technological and computational tools linked to statistics in order to collect, analyze, represent and interpret medical and biological data.

That is why it is an essential field for the medical community, which uses genetic sequencing technologies to diagnose people with symptoms that do not seem to refer to a clear cause. However, until very few years ago the data analysis process was long and tedious and had to be carried out by experts in software and programming, and could take months. By the time it reached the sanitarians, it might already be too late.

But this has changed a lot, and in recent times much more accessible platforms have been developed, easy to use and with intuitive interfaces that streamline the process. And that can be used, directly, by doctors or biologists themselves, even if they do not have computer training.

Thus, already in 2017, all over the world this reality began to materialize through the so-called EDGE (Empowering the Development of Genomics Expertise) , a bioinformatics tool that allows the user to obtain readable analyzes without all the hassle of gross outputs of data on the genetics of microorganisms, identification of genetic sequences, and species identification with almost a single click.

Thanks to it, many researchers from different areas who would never have dared to face programming have started to make use of it, enhancing their autonomy. Laboratories located in cities such as Lima (Peru) or Phnom Penh (Cambodia) have implemented it and appreciated the relief that involves not having to constantly be depending on the United States sending them the results.

In addition, it is quite affordable for research centers, hovering around $ 10,000. And not only that: it is an open source tool that allows anyone to participate in its improvement, lowering costs and ensuring its long-term sustainability. Who knows if, in the future, this will make diagnoses possible on the spot, without having to wait even a few hours.

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