One main focus of this platform concerns the analysis of the genome, the genes, and in particular the promoter elements, key in unravelling the regulatory networks, which are a major focus of the work of the entire consortium, and key components in any the molecular networks underlying many of the diseases to be analysed within the second funding period of the National Genome Research Network (NGFN-2). This analysis will be based on genomic sequencing, to understand the evolution of regions of the human genome, and to provide a resource for the further analysis of rat phenotypes, on the detailed analysis of promoter elements, their modification and their function.

The second important focus of this platform is the establishment of genotype-phenotype correlation, and in particular the identification of disease genes and the analysis of disease processes. For this, we will provide core capabilities in genotyping and resequencing of potential disease genes, try to validate the influence of specific SNPs on allele specific expression and the function of genes coding for mitochondrial proteins, provide a common resource for physical haplotyping and carry out an exhaustive analysis of haplotypes for a set of important genes, provide resources for the identification of large scale genomic changes on genomic DNA and tissue arrays, and carry out high throughput cloning of translocation breakpoints defining monogenic or polygenic disorders.