Date: Sunday September 4, 2016
Time: 9:00 – 17:00
Venue: World Forum, room: Europe 1
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. The aim of the course is to provide an up to date summary of recent developments in the creation and application of bio-ontologies to human genomic medicine with an emphasis on the use of phenotypes, and the relationships between phenotype and genotype. The course will introduce public resources and tools for creating and using ontologies, such as Protégé, AberOWL and Bioportal with some exercises based on users’ own problems. We will discuss the mapping of biological and biomedical data to ontologies using methods from datamining and natural language processing. Finally we 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.
The tutorial is aimed at computational biologists and medical informaticians interested in incorporating ontologies, in particular phenotype ontologies into their analysis pipelines, but clinicians and biologists with basic informatics expertise would also find the course accessible and useful.