Abstract

This talk provides an overview of the bioinformatics tools used for studying primary immunodeficiencies (PIDs), which are hereditary diseases of the immune system. Although many bioinformatics tools for PIDs are already freely available and can aid diagnosis, prediction, mutation analysis and classification, most resources are stand-alone systems and thus their integration is challenging. The speakers will discuss the mutation PID databases, the IDbases and the development of a data warehouse for PIDs in OpenClinica.

The second part of the masterclass will present the Mouse Genomes Project. Although belonging to the same species, the strains of mice used in scientific studies are very different. In spite of these differences, there is currently only one mouse reference genome and there is much less evidence for gene structures in genetically distant strains. These distant strains are important as they include founders for recombinant panels. This presentation will present our efforts to generate novel reference genomes and annotations for 16 mouse strains.