IBioBA Bioinformatics Core Facility

MARTA CORDOBA; PATRICIO YANKILEVICH; PATRICIO YANKILEVICH; MARCELO KAUFFMAN; MAXIMILIANO DE SOUSA SERRO

Simposio; Frontiers in Bioscience 2; 2016

The Bioinformatics Core Facility at the Biomedicine Research Institute of Buenos Aires (IBioBA) deals with the analysis of biological data with the aim to elucidate local disease pathways and identify specific gene and protein targets associated with disease. Our interdisciplinary team has experience in diverse areas such as high-throughput sequencing data analysis and interpretation, gene expression profiling, variant calling, structural variation analysis, gene regulation, functional genomics, medical and predictive genetic testing analysis, information visualization and laboratory information management systems.Our mission is to contribute to the research excellence with recognizable impact on the scope and quality of the collaborative research projects by consulting researchers on bioinformatics tools, databases, data analysis and interpretation. We apply bioinformatics methodology to the increasing amount of biomedical and genomic data to formulate knowledge and medical tools, which can be used by scientists, clinicians, and patients. This is an emerging field known as Translational Bioinformatics. Our online tools are INSECT 2.0 for cis-regulatory modules prediction and analysis, and Diagno to help medical doctors to diagnose based on the patients' genetic profile and complementary information, identifying the most probable recessive and dominant genes associated with disease.The development of a computational platform of human genome analysis and interpretation for Personalized Medicine is our major focus. The platform pipeline use over 15 public open source algorithms, developed by research groups from leading institutions, which conform today?s best practices in NGS data analysis. This guarantees a transparent data analysis and reproducibility.