Sebastian Bauer
Sebastian Bauer
Unknown affiliation
Verified email at sebastianbauer.info - Homepage
TitleCited byYear
Walking the interactome for prioritization of candidate disease genes
S Köhler, S Bauer, D Horn, PN Robinson
The American Journal of Human Genetics 82 (4), 949-958, 2008
8752008
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
5862014
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease
PN Robinson, S Köhler, S Bauer, D Seelow, D Horn, S Mundlos
The American Journal of Human Genetics 83 (5), 610-615, 2008
5732008
Ontologizer 2.0—a multifunctional tool for GO term enrichment analysis and data exploration
S Bauer, S Grossmann, M Vingron, PN Robinson
Bioinformatics 24 (14), 1650-1651, 2008
4342008
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ...
Nature genetics 42 (10), 827-829, 2010
3182010
Improved detection of overrepresentation of Gene-Ontology annotations with parent–child analysis
S Grossmann, S Bauer, PN Robinson, M Vingron
Bioinformatics 23 (22), 3024-3031, 2007
2972007
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ...
The American Journal of Human Genetics 85 (4), 457-464, 2009
2792009
Improved exome prioritization of disease genes through cross-species phenotype comparison
PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ...
Genome research, 2013
1972013
GOing Bayesian: model-based gene set analysis of genome-scale data
S Bauer, J Gagneur, PN Robinson
Nucleic acids research 38 (11), 3523-3532, 2010
1462010
Microindel detection in short-read sequence data
P Krawitz, C Rödelsperger, M Jäger, L Jostins, S Bauer, PN Robinson
Bioinformatics 26 (6), 722-729, 2010
982010
Introduction to Bio-ontologies
PN Robinson, S Bauer
Taylor & Francis US, 2011
812011
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
S Köhler, SC Doelken, BJ Ruef, S Bauer, N Washington, M Westerfield, ...
F1000Research 2, 2013
652013
An improved statistic for detecting over-represented gene ontology annotations in gene sets
S Grossmann, S Bauer, P Robinson, M Vingron
Research in Computational Molecular Biology, 85-98, 2006
562006
Model-based gene set analysis for Bioconductor
S Bauer, PN Robinson, J Gagneur
Bioinformatics 27 (13), 1882-1883, 2011
452011
Bayesian ontology querying for accurate and noise-tolerant semantic searches
S Bauer, S Köhler, MH Schulz, PN Robinson
Bioinformatics 28 (19), 2502-2508, 2012
432012
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and …
SC Doelken, S Köhler, CJ Mungall, GV Gkoutos, BJ Ruef, C Smith, ...
Disease models & mechanisms 6 (2), 358-372, 2013
412013
Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders
C Rödelsperger, P Krawitz, S Bauer, J Hecht, AW Bigham, M Bamshad, ...
Bioinformatics 27 (6), 829-836, 2011
412011
Improving ontologies by automatic reasoning and evaluation of logical definitions
S Köhler, S Bauer, C Mungall, G Carletti, C Smith, P Schofield, G Gkoutos, ...
BMC bioinformatics 12 (1), 418, 2011
382011
Methods for searching with semantic similarity scores in one or more ontologies
PN Robinson, MH Schulz, S Bauer, S Köhler
US Patent App. 12/461,517, 2009
36*2009
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process
V Heinrich, J Stange, T Dickhaus, P Imkeller, U Krüger, S Bauer, ...
Nucleic acids research 40 (6), 2426-2431, 2012
312012
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