Jan O Korbel
Affiliation: European Molecular Biology Laboratory
- 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 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...
- 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...
- 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...
- 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...
- 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...
- 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...