Frank Tüttelmann, Institute of Human Genetics (Homepage)
Martin Dugas / Julian Varghese, Institute of Medical Informatics (Homepage)

The Clinical Research Unit (CRU) addresses male infertility in an integrated approach in translational projects to increase the fraction of patients with a clear-cut causal diagnosis. To this end, all of the projects heavily rely on exchange of clinical data and materials from specialised biobanks (e.g. DNA, spermatozoa, testicular tissue). Thus, within this Core Project (CP), we will make the decentralised data-/biobanks readily accessible for all projects and consecutively will be able identify previously undetected genotype-phenotype correlations.

The seven projects will produce datasets of unprecedented quality and quantity from a wide range of state-of-the-art technologies and analysing such datasets requires profound bioinformatic knowledge. We will centralise the essential expertise in this CP, address the inherent challenges of genome-wide technologies, improve available and develop novel data analysis pipelines, and, thereby, provide bioinformatics support to the other projects. Methylome analyses require even more specific expertise and the respective pipelines will be established in Münster. This will, in perspective, open new research areas for the CRU and beyond.

Bringing together the initially project-specific and separate datasets opens up the way for novel integrated analyses. Such integrated analyses of, amongst others, clinical, genomic, epigenomic, expression, and protein data, are only possible within a consortium like this CRU and constitute one of the major added values of our group’s efforts. This will allow in silico prediction of additional candidate genes as well as networks for male reproductive phenotypes, improving individual diagnostic procedures, e.g. targeted sequencing of specific genes (precision medicine). Finally, this will lead to the development of a ‘Male Fertility Gene Atlas’, an invaluable resource for all researchers in the field of Andrology.