Peter Krawitz

Summary

Publications

  1. doi request reprint Microindel detection in short-read sequence data
    Peter Krawitz
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin
    Bioinformatics 26:722-9. 2010
  2. pmc Improved exome prioritization of disease genes through cross-species phenotype comparison
    Peter N Robinson
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Genome Res 24:340-8. 2014
  3. pmc Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
    Daniel M Ibrahim
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Genome Res 23:2091-102. 2013
  4. ncbi request reprint Jannovar: a java library for exome annotation
    Marten Jäger
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, Berlin, Germany
    Hum Mutat 35:548-55. 2014
  5. pmc Clinical diagnostics in human genetics with semantic similarity searches in ontologies
    Sebastian Kohler
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Am J Hum Genet 85:457-64. 2009
  6. ncbi request reprint Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
    Uwe Kornak
    1 Institute of Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Brain 137:683-92. 2014

Collaborators

Detail Information

Publications6

  1. doi request reprint Microindel detection in short-read sequence data
    Peter Krawitz
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin
    Bioinformatics 26:722-9. 2010
    ..While several reliable algorithms are available for automated SNV detection, the automated detection of microindels in deep short-read data presents a new bioinformatics challenge...
  2. pmc Improved exome prioritization of disease genes through cross-species phenotype comparison
    Peter N Robinson
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Genome Res 24:340-8. 2014
    ....
  3. pmc Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
    Daniel M Ibrahim
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Genome Res 23:2091-102. 2013
    ..The methodology described can be used to investigate a wide spectrum of TFs and mutations that have not previously been amenable to ChIP-seq experiments. ..
  4. ncbi request reprint Jannovar: a java library for exome annotation
    Marten Jäger
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, Berlin, Germany
    Hum Mutat 35:548-55. 2014
    ..Jannovar is freely available under the BSD2 license. Source code as well as the Java application and library file can be downloaded from http://compbio.charite.de (with tutorial) and https://github.com/charite/jannovar. ..
  5. pmc Clinical diagnostics in human genetics with semantic similarity searches in ontologies
    Sebastian Kohler
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Am J Hum Genet 85:457-64. 2009
    ..We have implemented our methods in a freely available web application for the field of human Mendelian disorders...
  6. ncbi request reprint Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
    Uwe Kornak
    1 Institute of Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Brain 137:683-92. 2014
    ..It emphasizes that alterations in membrane shaping-proteins are one of the major emerging pathways in axonal degeneration and suggests that this group of molecules should be considered in neuroprotective strategies. ..