Jan O Korbel

Summary

Affiliation: European Molecular Biology Laboratory
Country: Germany

Publications

  1. pmc High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution
    Yehudit Hasin
    Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel
    PLoS Genet 4:e1000249. 2008
  2. 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
  3. pmc Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity
    Sebastian M Waszak
    Department of Molecular Genetics, Crown Human Genome Center, Weizmann Institute of Science, Rehovot, Israel
    PLoS Comput Biol 6:e1000988. 2010
  4. pmc Shadow Enhancers Are Pervasive Features of Developmental Regulatory Networks
    Enrico Cannavó
    European Molecular Biology Laboratory EMBL, Genome Biology Unit, 69117 Heidelberg, Germany
    Curr Biol 26:38-51. 2016
  5. ncbi request reprint Similar gene expression profiles do not imply similar tissue functions
    Itai Yanai
    Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel
    Trends Genet 22:132-8. 2006
  6. 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
  7. 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
  8. pmc A cell-based model system links chromothripsis with hyperploidy
    Balca R Mardin
    European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany
    Mol Syst Biol 11:828. 2015
  9. pmc Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation
    Joachim B Kunz
    Department of Pediatric Oncology, Hematology and Immunology, Children s Hospital, University of Heidelberg, Germany Molecular Medicine Partnership Unit, EMBL University of Heidelberg, Germany German Cancer Consortium DKTK, Heidelberg, Germany
    Haematologica 100:1442-50. 2015
  10. 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

Detail Information

Publications16

  1. pmc High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution
    Yehudit Hasin
    Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel
    PLoS Genet 4:e1000249. 2008
    ..Furthermore, these deletion alleles may be used in future genetic association studies of olfactory inter-individual differences...
  2. 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...
  3. pmc Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity
    Sebastian M Waszak
    Department of Molecular Genetics, Crown Human Genome Center, Weizmann Institute of Science, Rehovot, Israel
    PLoS Comput Biol 6:e1000988. 2010
    ....
  4. pmc Shadow Enhancers Are Pervasive Features of Developmental Regulatory Networks
    Enrico Cannavó
    European Molecular Biology Laboratory EMBL, Genome Biology Unit, 69117 Heidelberg, Germany
    Curr Biol 26:38-51. 2016
    ..Third, although shadow enhancers can buffer variation, patterns of segregating variation suggest that they play a more complex role in development than generally considered. ..
  5. ncbi request reprint Similar gene expression profiles do not imply similar tissue functions
    Itai Yanai
    Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel
    Trends Genet 22:132-8. 2006
    ..Ectopic expression is possibly explained as expression leakage, caused by spreading of chromatin modifications or the transcription apparatus into neighboring genes...
  6. 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...
  7. 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...
  8. pmc A cell-based model system links chromothripsis with hyperploidy
    Balca R Mardin
    European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany
    Mol Syst Biol 11:828. 2015
    ..Analysis of primary medulloblastoma cancer genomes verified the link between hyperploidy and chromothripsis in vivo. CAST provides the foundation for mechanistic dissection of complex DNA rearrangement processes...
  9. pmc Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation
    Joachim B Kunz
    Department of Pediatric Oncology, Hematology and Immunology, Children s Hospital, University of Heidelberg, Germany Molecular Medicine Partnership Unit, EMBL University of Heidelberg, Germany German Cancer Consortium DKTK, Heidelberg, Germany
    Haematologica 100:1442-50. 2015
    ..This study thus identifies mechanisms that drive progression of pediatric T-cell acute lymphoblastic leukemia to relapse and may explain the characteristic treatment resistance of this condition...
  10. 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...
  11. 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
    ....
  12. 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...
  13. 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...
  14. 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...
  15. pmc 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. ..
  16. 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...