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Peter Krawitz
© Peter Krawitz
Prof. Dr. Peter Krawitz

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Affiliations
  • Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn
Research topics
  • deep learning
  • genome analysis
  • GPI-anchor deficiencies
Our research aims at deepening the understanding of genome biology and advancing personalized medicine. Besides our own fields of interest we engage in collaborative research projects with the department of Human Genetics, the Excellence Cluster Immunosensation and with basically any lab on the campus that has challenging high dimensional data. In most of our projects we are using artificial intelligence in the analysis of big biomedical data sets and we are trying to understand what the machines are doing.
Selected publications

Hsieh T-C et al. (2022) GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet Available at: http://dx.doi.org/10.1038/s41588-021-01010-x.

Krawitz PM et al. (2010) Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 42:827-829.

Lupiáñez DG et al. (2015) Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell 161:1012-1025.

Schmidt A et al. (2023) Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings. medRxiv Available at: https://www.medrxiv.org/content/10.1101/2023.04.19.23288824v1.abstract.

Peter Krawitz
© Peter Krawitz
Prof. Dr. Peter Krawitz

Website

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