People Christian Gilissen Genome bioinformatics

Genome bioinformatics

Developing and applying bioinformatics methods to gain insight into the causes and mechanisms of genetic disorders such as intellectual disability.

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Genome bioinformatics

My research group focuses around three central themes:
  1. Developing novel bioinformatics methods for the improved interpretation of genome variation.
  2. The implementation and application of bioinformatics analysis pipelines to identify novel genetic causes of disease.
  3. The translation of novel technologies and bioinformatics methods from research for the improved genetic diagnosis of patients.
In the past I have mainly focused on exome sequencing as a sequencing technology platform for my studies. My group has implemented the bioinformatics methods required to interpret exome sequencing data. Together with my collaborators we have identified many novel genes for Mendelian disorders. This research has now moved from small-scale studies towards cohort-based exome sequencing in combination with appropriate statistical methods to identify novel disease genes. Within this theme I mostly collaborate with researchers within my department for novel technologies to identify disease genes for rare developmental disorders (Dr. Alexander Hoischen) as well as intellectual disabilities (Dr. Lisenka Vissers). I still have smaller collaborations with various international research groups to analyze and interpret exome sequencing data in order to identify novel disease genes. I also have an ongoing collaboration with Prof. Gert Vriend from the CMBI to integrate protein 3D information and genetic information to improve the interpretation of genome variation. Currently my focus is shifting from whole exome sequencing to whole genome sequencing.
 

Patient care

In 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.

Research group leader

Christian Gilissen PhD

+31 (0)24 366 89 40
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Germline de novo mutation clusters arise during oocyte aging

6 March 2018

Publication in Nature genetics by Jakob Goldmann and Christian Gilissen, resp. themes Reconstructive and regenerative medicine and Mitochondrial diseases.

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Team

Radboud Institute for Molecular Life Sciences

Our main aim is to achieve a greater understanding of the molecular mechanisms of disease. By integrating fundamental and clinical research, we obtain multifaceted knowledge of (patho)physiological processes. read more