Computational Biology Group > Computational Biology and Bioinformatics Website

The CBB group at the Institute for Medical Genetics and Human Genetics at Charité-Universitätsmedizin Berlin develops algorithms and applications in the field of Gene Ontology, Phenotypic Analysis, Machine Learning, and modeling of biological networks with the tools of linear algebra and graph theory. We also collaborate on the computational analysis of wetlab biological data, especially in the fields of human hereditary disease and the molecular basis of bone development and fracture healing.

We are a multidisciplinary team of computer scientists, bioinformaticians, biologists, and MDs.

Latest News


[04.10.2014]   Paper about the application of HPO and Uberpheno for the interpretation of CNV findings published in Journal of Medical Genetics
[30.09.2014]   "Deletions of chromosomal regulatory boundaries are associated with congenital disease" published in Genome Biology
[14.09.2014]   Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome published in Science Translational Medicine. The PhenIX browser is online!
[04.08.2014]   "Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases" published in Bioinformatics
[14.07.2014]   Methods for quality assessment of phenotype annotation data published at the PhenoDay @ ISMB
[05.07.2014]   Paper about the influence of specific disease categories on candidate gene prediction using model organism phenotypes published in Journal of Biomedical Semantics
[11.04.2014]   Phenotype Ontologies and Cross-Species Analysis for Translational Research [pubmed]
[10.04.2014]   Jannovar: A Java Library for Exome Annotation [pubmed]
[22.02.2014]   Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation [pubmed]
[11.11.2013]   New HPO-paper online [NAR]
New article published in Genome Research: Improved exome prioritization of disease genes through cross species phenotype comparison [pubmed]
[12.09.2013]   Paper with the Hecht lab on ChIP-seq analysis of HOXD13 mutatations [pubmed]
[10.09.2013]   Paper with the Babel lab on T Cell Receptor analysis by NGS [pubmed]
[17.06.2013]   A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT [pubmed]
  PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome [pubmed]
[20.03.2013]   Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy [pubmed]
[04.03.2013]   Mutations in the IL-21 receptor gene identified as the cause of a novel a primary immunodeficiency syndrome by exome sequencing. Our lab contributed the exome sequencing and computational analysis thereof to this elegant paper by the group of Prof. Klein in Munich. Congratulations to the first authors Daniel Kotlarz and Natalia Zietara!
[25.02.2013]   The cross-species phenotype resource got three positive reviews (see here)
[01.02.2013]   Published an easy-to-access and up-to-date resource for cross-species phenotype analysis [advance access]
[30.01.2013]   Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice [pubmed]
[29.10.2012]   Using phenotype ontologies for the interpretation of CNVs [pubmed]
Genomic Rearrangements at the PITX1 Locus identified as cause of Liebenberg syndrome [pubmed]
[29.08.2012]   PIGO identified as second disease gene for HPMR syndrome [pubmed]
[20.08.2012]   Paper on Bayesian Ontology Querying published in Bioinformatics
[17.05.2012]   Human Variome Project ASHG Satellite Meeting: Getting Ready for the Human Phenome Project [website],

Tuesday 6th November 2012, Satellite of ASHG meeting, San Francisco, CA


Paper by Koehler et al. on ontological standards for phenotypes in neurogenetics published in Human Mutation. [pubmed]

Paper on Deep Phenotyping for Precision Medicine published as part of a special issue of Human Mutation on Deep Phenotying [pubmed].
[15.12.2011]   Paper investigating the allele distribution in NGS data published in Nucleic acids research. [pubmed]
[12.10.2011]   Manuscript on p-value calculation for semantic similarity searches published in BMC Bioinformatics
 [30.10.2011]   Manuscript by Sebastian K et al. on ontology improvement by means of logical term definitions and automatic reasoning published in BMC Bioinformatics
 [27.04.2011]    A new book, Introduction to Bio-Ontologies, was published at CRC Press in June 2011!

                           Introduction to Bio-Ontologies
  Review article on bioinformatics in human genetics published in Human Mutation [pubmed]
 [31.03.2011]   Article on transcriptome assembly of RNA-seq data from a sheep model published in BMC Genomics[pubmed]
 [22.03.2011]   An article on exome-sequence analysis, Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. appears in Bioinformatics [pubmed].
 [26.11.2010]   Manuscript on prediction of long-range enhancer-target gene interactions published in Nucleic Acid Research [NAR]
 [30.08.2010]   Disease gene for HPMR discovered by Identity-by-descent (IBD=2) algorithm (Krawitz, Schweiger, et al., Nature Genetics, 2010)

An article written by Sebastian K and our group has been selected for publication in the 2010 International Medical Informatics Association (IMIA) Yearbook of Medical Informatics as one of the best papers on decision support.