HORARIO: martes 19 de abril de 2016, a las 12:00
LUGAR: Salón de Grados de la Facultad de Biología
TÍTULO: "Ontologies of phenotypes and their applications in personalized medicine"
RESUMEN:The development of formal ontologies for the description of phenotypes for many species including mice and humans has revolutionized our ability to analyse the effects of mutations, elucidate the molecular basis of disease, develop animal models and analyse high throughput experiments. In my talk I will discuss our research on the creation and application of phenotype ontologies to human genomic medicine with an emphasis on the use of phenotypes for disease gene prioritization and understanding the relationships between phenotype and genotype. I will demonstrate how formal ontological analysis and reasoning using the Web Ontology Language (OWL) can not only improve our ability to integrate data but also help to understand the pathobiology of human disease. Finally, I will demonstrate ontology-based tools for analyzing clinical phenotype and genotype data and their application to identifying causal variants for rare disease from personal genomes.
PONENTE: Dr. Robert Hoehndorf (Computational Bioscience Research Center, King Abdullah University of Science and Technology)
IDIOMA: inglés
DURACIÓN TOTAL ESTIMADA: 90 minutos
