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The research group is part of the Centre for Functional Genomics and of the BIH's Exploratory Diagnostic Sciences section which is lead by Ute Scholl and Dominik Seelow.

Dominik Seelow

Prof. Dr. Dominik Seelow

Professor of Bioinformatics and Translational Genetics

Contact information
Address:Postal address: Charitéplatz 1, 10117 Berlin
Office: Platz vor dem Neuen Tor 4, 10115 Berlin

Research focus

Identification of disease mutations

The advent of high-throughput DNA sequencing technologies has revolutionised the study of genetic disease. However, humans carry several millions of deviations from the human genome ‘reference’ sequence, so called DNA variants. Due to the large amounts of data, experimental analysis or even a manual assessment of the potential effects of the variants is not feasible. Therefore, bioinformatic methods have to be applied to identify the variant with the highest disease-causing potential.

We have developed several applications to help physicians and researchers in this daunting task:

HomozygosityMapper (https://www.homozygositymapper.org) and AutozygosityMapper (https://www.genecascade.org/AutozygosityMapper/) are aimed at the identification of disease-linked genetic regions in consanguineous families.

GeneDistiller (https://www.genedistiller.org) is a candidate gene search engine which allows researchers to find the genes most likely to cause the disease they study.

MutationTaster (https://www.mutationtaster.org) predicts the effect of DNA variants on the protein encoded by the gene they reside in and their potential to destroy the protein’s function.

MutationDistiller (https://www.mutationdistiller.org) combines GeneDistiller and MutationTaster. The effect of a DNA variant on the protein and the possible role of this protein in the pathogenesis of a specific disorders are brought together to find the most likely disease mutation in a flood of variants.

FABIAN-variant  (https://www.genecascade.org/FABIAN/) evaluates the effect of DNA variants on transcription factor binding.

RegulationSpotter (https://www.regulationspotter.org) is aimed at the user-friendly search for disease mutations outwith protein-coding genes.

Digital 'deep' phenotyping of diseases and clinical signs

Personalised medicine or precision medicine requires detailed information about a patient’s disorder, i.e. the clinical signs he or she shows – and those which are explicitly absent. We have developed a tool that records a patient's diseases, clinical signs, and symptoms in a standardised and machine-readable format.

SAMS - Symptom Annotation Made Simple (https://www.genecascade.org/SAMS/)

Complete list of maintained software: https://www.genecascade.org/

Publication record / citations: Google Scholar

Selected publications

Further activities

The research group is part of the DFG Research Unit Beyond The Exome(DFG FOR2841) aimed at a better understanding of the role of the non-coding genome.

We are working on certifying some of our tools for diagnostic use. The project MutationSearch is funded by the BIH's Digital Health Accelerator.

Dominik Seelow is Executive Editor of Nucleic Acids Research's Web Server Issue.

He is also the coordinator of the Human Genetics module in the Charité's international Molecular Medicine Master programme.