People of Beyond the exome
Prof. Dr. rer. medic. Dominik Seelow
Berliner Institut für Gesundheitsforschung
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.
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