Jan O Korbel

Summary

Affiliation: European Molecular Biology Laboratory
Country: Germany

Publications

  1. pmc PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data
    Jan O Korbel
    Gene Expression Unit, European Molecular Biology Laboratory EMBL, Meyerhofstr, Heidelberg, 69117, Germany
    Genome Biol 10:R23. 2009
  2. pmc Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing
    Thomas Zichner
    Genome Biology Unit, European Molecular Biology Laboratory EMBL, 69117 Heidelberg, Germany
    Genome Res 23:568-79. 2013
  3. pmc Systematic association of genes to phenotypes by genome and literature mining
    Jan O Korbel
    European Molecular Biology Laboratory, Heidelberg, Germany
    PLoS Biol 3:e134. 2005
  4. doi request reprint Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer
    Joachim Weischenfeldt
    Genome Biology Unit, European Molecular Biology Laboratory EMBL, Meyerhofstr 1, 69117 Heidelberg, Germany
    Cancer Cell 23:159-70. 2013
  5. doi request reprint Phenotypic impact of genomic structural variation: insights from and for human disease
    Joachim Weischenfeldt
    Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg, 69117, Germany
    Nat Rev Genet 14:125-38. 2013
  6. doi request reprint A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL
    Susanne Haemmerling
    Department of Paediatric Oncology, Haematology and Immunology, University of Heidelberg Medical Centre, Heidelberg, Germany
    Br J Haematol 157:180-7. 2012
  7. ncbi request reprint SHOT: a web server for the construction of genome phylogenies
    Jan O Korbel
    EMBL, Meyerhofstrasse 1, 69117, Heidelberg, Germany
    Trends Genet 18:158-62. 2002
  8. doi request reprint Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma
    David T W Jones
    Division of Pediatric Neurooncology, German Cancer Research Center DKFZ, Heidelberg, Germany
    Nat Genet 45:927-32. 2013
  9. doi request reprint Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency
    Johann Greil
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    J Allergy Clin Immunol 131:1376-83.e3. 2013
  10. pmc Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions
    Andreas Schlattl
    European Molecular Biology Laboratory EMBL, Genome Biology Research Unit, 69117 Heidelberg, Germany
    Genome Res 21:2004-13. 2011

Collaborators

Detail Information

Publications10

  1. pmc PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data
    Jan O Korbel
    Gene Expression Unit, European Molecular Biology Laboratory EMBL, Meyerhofstr, Heidelberg, 69117, Germany
    Genome Biol 10:R23. 2009
    ..The simulations demonstrated high structural variant reconstruction efficiency for PEMer's coverage-adjusted multi-cutoff scoring-strategy and showed its relative insensitivity to base-calling errors...
  2. pmc Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing
    Thomas Zichner
    Genome Biology Unit, European Molecular Biology Laboratory EMBL, 69117 Heidelberg, Germany
    Genome Res 23:568-79. 2013
    ..Our map represents a resource for population-level studies of SVs in an important model organism...
  3. pmc Systematic association of genes to phenotypes by genome and literature mining
    Jan O Korbel
    European Molecular Biology Laboratory, Heidelberg, Germany
    PLoS Biol 3:e134. 2005
    ..Among the clusters, we observe an enrichment of pathogenicity-related associations, suggesting that the approach reveals many novel genes likely to play a role in infectious diseases...
  4. doi request reprint Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer
    Joachim Weischenfeldt
    Genome Biology Unit, European Molecular Biology Laboratory EMBL, Meyerhofstr 1, 69117 Heidelberg, Germany
    Cancer Cell 23:159-70. 2013
    ....
  5. doi request reprint Phenotypic impact of genomic structural variation: insights from and for human disease
    Joachim Weischenfeldt
    Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg, 69117, Germany
    Nat Rev Genet 14:125-38. 2013
    ..We further present advances in delineating disease-causing elements that are affected by structural variants, and we discuss future directions for research on the functional consequences of structural variants...
  6. doi request reprint A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL
    Susanne Haemmerling
    Department of Paediatric Oncology, Haematology and Immunology, University of Heidelberg Medical Centre, Heidelberg, Germany
    Br J Haematol 157:180-7. 2012
    ..The 15q24 microdeletion may thus represent the first genetic hit to initiate leukaemogenesis and implicates PML and SUMO3 as novel components of the leukaemogenic network in TMD/AMKL...
  7. ncbi request reprint SHOT: a web server for the construction of genome phylogenies
    Jan O Korbel
    EMBL, Meyerhofstrasse 1, 69117, Heidelberg, Germany
    Trends Genet 18:158-62. 2002
    ..SHOT is a useful tool for analysing the tree of life from a genomic point of view. It is available at http://www.Bork.EMBL-Heidelberg.de/SHOT...
  8. doi request reprint Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma
    David T W Jones
    Division of Pediatric Neurooncology, German Cancer Research Center DKFZ, Heidelberg, Germany
    Nat Genet 45:927-32. 2013
    ..Our findings thus identify new potential therapeutic targets in distinct subsets of pilocytic astrocytoma and childhood glioblastoma. ..
  9. doi request reprint Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency
    Johann Greil
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    J Allergy Clin Immunol 131:1376-83.e3. 2013
    ..They are clinically highly relevant per se because in patients with severe combined immunodeficiency (SCID), infections caused by opportunistic pathogens are typically life-threatening early in life...
  10. pmc Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions
    Andreas Schlattl
    European Molecular Biology Laboratory EMBL, Genome Biology Research Unit, 69117 Heidelberg, Germany
    Genome Res 21:2004-13. 2011
    ..Our results suggest that association studies can gain in resolution and power by including fine-scale CNV information, such as those obtained from population-scale sequencing...