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- Research interest:Analysis of genomic (re)sequencing data in the context of medical genetics. This comprises analysis of raw data, variant annotation and interpretation, building automated analysis pipelines and user-friendly web-tools. My research focus is both identification of genetics defects, and functional follow-up. We use human embryonic stem cells, in which we introduce relevant mutations. My main topics are related to cognitive genetics and oncology.
- Keywords:BIOINFORMATICS, HUMAN MOLECULAR GENETICS, NEXT GENERATION SEQUENCING, MEDICAL GENETICS, Biomedical sciences (incl. biochemistry)
- Disciplines:Bioinformatics and computational biology, Molecular and cell biology, Oncology, Neurosciences
- Research techniques:Next Generation Sequencing, High performance computing, cloud computing, Variant interpretation, Galaxy
- Users of research expertise:Researchers working with large genomic datasets