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.
Bioinformatics and Translational Genetics
The main research area of the Bioinformatics and Translational Genetics group is the elucidation of single gene disorders (diseases caused by DNA mutations in a single gene). We are developing user-friendly software that can be used by non-IT specialists. This allows the physicians – who know most about the patients and their disorders – to analyse genetic data by themselves. All our applications are free to use for academic research.
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
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.
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.