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Author Details
Full Name
Sebastian Bauer
Affiliation
Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin
ORCID
Career Start Year
2006
Papers
27
H Index
20
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
27812943
Gene-Category Analysis.
Methods Mol Biol
2017
24217912
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res
2014
25315429
Deletions of chromosomal regulatory boundaries are associated with congenital disease.
Genome Biol
2014
24677618
Jannovar: a java library for exome annotation.
Hum Mutat
2014
24162188
Improved exome prioritization of disease genes through cross-species phenotype comparison.
Genome Res
2014
23104991
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 zebrafish.
Dis Model Mech
2013
22127862
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.
Nucleic Acids Res
2012
22843981
Bayesian ontology querying for accurate and noise-tolerant semantic searches.
Bioinformatics
2012
21278187
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
Bioinformatics
2011
22078312
Exact score distribution computation for ontological similarity searches.
BMC Bioinformatics
2011
22032770
Improving ontologies by automatic reasoning and evaluation of logical definitions.
BMC Bioinformatics
2011
21561920
Model-based gene set analysis for Bioconductor.
Bioinformatics
2011
21109530
Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions.
Nucleic Acids Res
2011
19882684
In vitro inhibition of fungal activity by macrophage-mediated sequestration and release of encapsulated amphotericin B nanosupension in red blood cells.
Small
2010
20802478
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Nat Genet
2010
20172960
GOing Bayesian: model-based gene set analysis of genome-scale data.
Nucleic Acids Res
2010
20144947
Microindel detection in short-read sequence data.
Bioinformatics
2010
19257815
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts.
J Bone Miner Res
2009
19660540
Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts.
Genomics
2009
19800049
Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
Am J Hum Genet
2009
17996480
A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.
Int J Biochem Cell Biol
2008
18950739
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
Am J Hum Genet
2008
18511468
Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration.
Bioinformatics
2008
18283030
The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences.
Int J Bioinform Res Appl
2008
18371930
Walking the interactome for prioritization of candidate disease genes.
Am J Hum Genet
2008
17848398
Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis.
Bioinformatics
2007
16822315
Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep.
BMC Genomics
2006
1 - 27 of 27
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