Genome bioinformaticsMy research group focuses around three central themes:
- Developing novel bioinformatics methods for the improved interpretation of genome variation.
- The implementation and application of bioinformatics analysis pipelines to identify novel genetic causes of disease.
- The translation of novel technologies and bioinformatics methods from research for the improved genetic diagnosis of patients.
Patient careIn my research I have in part focused on showing the feasibility of clinical applications for novel technologies and I have published various scientific papers on this topic. I worked in close collaboration with Dr. Lisenka Vissers and Dr. Kornelia Neveling to perform proof-of-concept studies of novel genomic technologies for clinical applications. We showed that these novel technologies could be successfully implemented in the clinic but also that the diagnostic yield and thus benefits for patients improved considerably. My work focuses on establishing efficient bioinformatics workflows that reduce manual labor and software that aid in the interpretation of genome variation.
Germline de novo mutation clusters arise during oocyte aging6 March 2018
Publication in Nature genetics by Jakob Goldmann and Christian Gilissen, resp. themes Reconstructive and regenerative medicine and Mitochondrial diseases.read more