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Today Myriad Genetics (Nasdaq Mygn) went into Wall Street and has grown (upgraded). Myriad Genetics is a healthcare company focused on the development and marketing of novel molecular diagnostic products. Myriad declares to be committed to improve patient healthcare through the commercialization of predictive medicine at $3,000 each), personalized medicine, and prognostic medicine products. The society’s goal is to introduce new molecular diagnostic products that provide life-saving information, improve the quality of life, and save the healthcare system money.
However, we could question why should we pay $3,000 for the diagnostic test in the human breast-cancer. Thus, professor Steven Salzberg at the University of Maryland and his staff have created a computational diagnostic test for mutations in the human breast-cancer genes BRCA1 and BRCA2. This test is based on a software released as Perl source code and is  OSI Certified Open Source. The computational screening test takes the raw DNA sequence data from a whole-genome sequence of an individual human and tests for each of 68 known mutations in the BRCA1 and BRCA2 genes. The system uses the very fast Bowtie alignment program to align all the reads from a deeply-sequenced human genome in just a few hours. For each mutation that it finds, the software reports whether the individual is homozygous or heterozygous for that mutation. This method represents a template that can easily be modified to test for almost any known human genetic mutation.

In Italiano:
Oggi è stata quotata a Wall Street una società che si occupa di test genetici. La società si chiama Myriad Genetics e vende un mucchio di carissimi test genetici, tra cui uno che costa $3000 e funziona piuttosto bene per prevedere rischi di cancro al seno e alle ovaie.
Ci si chiede però per quale motivo si dovrebbero pagare tutti questi soldi se il test è essenziale per conoscere eventuali patologie tumorali, familiarità della malattia, ecc.
Succede anche che il professor Steven Salzberg dell’Università del Maryland (USA) sta provando a mettersi di traverso. Salzberg ha creato un software gratuito che permette di farsi il test da soli a casa, a patto di avere un normale computer di discreta potenza. Otto ore e il gioco è fatto. Qui c’è il link per il software del Prof. Salzberg.