Beyond the exome

DFG funded Research Group

People of Beyond the exome

Prof. Dr. rer. medic. Dominik Seelow

Testbeschreibung Berliner Institut für Gesundheitsforschung
Charité-Universitätsmedizin Berlin
Charitéplatz 1,
D-10117 Berlin, Germany

Phone: +49 (0)30 450 539096
FAX: +49 (0)30 450 539965

Dominik Seelow, Dr. rer. medic., is professor for Bioinformatics and Translational Genetics and research group leader at the Berlin Institute of Health (BIH) and Charité-Universitätsmedizin Berlin. His research focus is the development of user-friendly software and databases for the elucidation of monogenic disease. All applications are free to use and most are web-based. Some examples are HomozygosityMapper which is aimed at the discovery of disease-linked genomic regions in consanguineous families, MutationTaster for the evaluation of the disease-causing potential of DNA variants, MutationDistiller, combining gene variant and phenotype annotation for the identification of the disease mutation in WES data, RegulationSpotter giving a user-friendly estimation of the potential impact of extra-transcriptic DNA variants, and ePOSSUM, which predicts the effect of DNA variants on transcription factor binding.

Publications (selection)

Schwarz JM, Hombach D, Köhler S, Cooper DN, Schuelke M, Seelow D. RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. Nucleic Acids Res 2019;47(W1):W106-W113

Hombach D, Schuelke M, Knierim E, Ehmke N, Schwarz JM, Fischer-Zirnsak B, Seelow D. MutationDistiller: user-driven identification of pathogenic DNA variants. Nucleic Acids Res 2019;47(W1):W114-W120

Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014;11:361-2.

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D. A systematic, large-scale comparison of transcription factor binding site models. BMC Genomics 2016;17:388

Seelow D, Schuelke M. HomozygosityMapper2012-bridging the gap between homozygosity mapping and deep sequencing. Nucleic Acids Res 2012;40(Web Server issue):W516-20