Welcome!

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

 

[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 [advance access]
[07.10.2012]		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
[16.05.2012]		Paper by Koehler et al. on ontological standards for phenotypes in neurogenetics published in Human Mutation. [pubmed]
[16.05.2012]		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!
[26.04.2011]		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)
[17.08.2010]		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.