Optimización de la técnica de utrasecuenciación para el estudio de miocardiopatías congénitas humanas

Abstract

Due the actual importance of nucleic acids sequencing, not just in the field of genetic diagnosis, but also on general medicine Since 2005, a new sequencing technique has been developed, called Next Generation Sequencing (NGS), wich allows a rapid and economical sequencing for any genome Its application in clinical practice requires a wide validadtion and fine tuning of the entire workflow wich involve the use of these new technologies at two levels: Workflow in the molecular biology laboratory. Bioinformatics data processing There are different alternatives to archive the goal of providing a rapid and accurate diagnosis. Different workflows were evaluated at laboratory and bioinformatics levels including: Different methods for sample preparation. Several New Generation Sequencing equipment Various methods of informatic data processing. Witth the goal of validating a protocol with high reproductibility and accuracy for the deteccion of genetics variants involved in the diagnosis of congenital cardiovascular diseases.