Getting poster data...
Patricio Yankilevich, Maximiliano de Sousa Serro, Daniel Koile (Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA) - CONICET - Partner Institute of the Max Planck Society, Buenos Aires, Argentina)A personal genome interpretation platform is being developed to identify molecular and genetic variations within the Argentinean population. The analysis and visual interpretation of genetic screening information will allow us to elucidate local disease pathways and identify new drug targets. The platform may help us to better understand the genetic basis of local diseases, to make more accurate diagnosis, to have a better understanding of prognosis and to take better treatment decisions. Eventually, it can be used in clinical trials to speed up time, reduce risks and identify genetic causes in drug response and side effects. The platform has four main components: a computer cluster, an NGS data analysis pipeline, a set of biological knowledge databases and a platform website. The platform workflow moves from reads (data) to identified genetic variants (information) to disease-related biomarkers (knowledge). A final online interactive report is being design to include integrative visualizations, visual quantitative assessments and ideograms to make the personal genome interpretation a more comprehensive experience to medical geneticists, researchers and clinical trails specialists.