Jan O Korbel
Affiliation: European Molecular Biology Laboratory
- High-resolution copy-number variation map reflects human olfactory receptor diversity and evolutionYehudit 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...
- PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing dataJan 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...
- Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversitySebastian M Waszak
Department of Molecular Genetics, Crown Human Genome Center, Weizmann Institute of Science, Rehovot, Israel
PLoS Comput Biol 6:e1000988. 2010....
- Shadow Enhancers Are Pervasive Features of Developmental Regulatory NetworksEnrico 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. ..
- Similar gene expression profiles do not imply similar tissue functionsItai 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...
- Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencingThomas 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...
- Systematic association of genes to phenotypes by genome and literature miningJan 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...
- A cell-based model system links chromothripsis with hyperploidyBalca 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...
- Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylationJoachim 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...
- SHOT: a web server for the construction of genome phylogeniesJan 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...
- Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancerJoachim Weischenfeldt
Genome Biology Unit, European Molecular Biology Laboratory EMBL, Meyerhofstr 1, 69117 Heidelberg, Germany
Cancer Cell 23:159-70. 2013....
- Phenotypic impact of genomic structural variation: insights from and for human diseaseJoachim 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...
- A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKLSusanne 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...
- Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regionsAndreas 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...
- Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytomaDavid 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. ..
- Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiencyJohann 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...