Sebastian Bauer

发表

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

P. Robinson, S. Köhler, Sebastian Bauer, 2008, American journal of human genetics.

Walking the interactome for prioritization of candidate disease genes.

P. Robinson, S. Köhler, Sebastian Bauer, 2008, American journal of human genetics.

GOing Bayesian: model-based gene set analysis of genome-scale data

Peter N. Robinson, Sebastian Bauer, J. Gagneur, 2010, Nucleic acids research.

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

Marcel H. Schulz, Peter N. Robinson, S. Köhler, 2009, American journal of human genetics.

Improved exome prioritization of disease genes through cross-species phenotype comparison

Damian Smedley, Sebastian Bauer, Melissa Haendel, 2014, Genome research.

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

Damian Smedley, Paul N. Schofield, Sebastian Bauer, 2012, Disease Models & Mechanisms.

Documentation of a Conduit Flow Process (CFP) for MODFLOW-2005

Sebastian Bauer, E. Swain, W. B. Shoemaker, 2007 .

Deletions of chromosomal regulatory boundaries are associated with congenital disease

S. Lewis, M. Hurles, D. Smedley, 2014, Genome Biology.

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

Damian Smedley, Sebastian Bauer, Monte Westerfield, 2013, F1000Research.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Sebastian Bauer, Sebastian Köhler, Christian Rödelsperger, 2010, Nature Genetics.

Microindel detection in short-read sequence data

Sebastian Bauer, Christian Rödelsperger, Peter M. Krawitz, 2010, Bioinform..

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.

Marcel H. Schulz, P. Robinson, Sebastian Bauer, 2008, The international journal of biochemistry & cell biology.

Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts.

Marcel H. Schulz, S. Köhler, Sebastian Bauer, 2009, Genomics.

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

P. Robinson, Sebastian Bauer, S. Mundlos, 2006, BMC Genomics.

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Peter N. Robinson, S. Lewis, M. Hurles, 2014, Genome Biology.

Jannovar: A Java Library for Exome Annotation

Damian Smedley, Sebastian Bauer, Marten Jäger, 2014, Human mutation.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.

Damian Smedley, Sebastian Bauer, Monte Westerfield, 2013, F1000Research.

Introduction to Bio-Ontologies

Peter N. Robinson, Sebastian Bauer, Sebastian Bauer, 2011 .

Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders

Sebastian Bauer, Peter N. Robinson, Abigail W. Bigham, 2011, Bioinform..

Ontologizer 2.0 - a multifunctional tool for GO term enrichment analysis and data exploration

Martin Vingron, Sebastian Bauer, Peter N. Robinson, 2008, Bioinform..

Improving ontologies by automatic reasoning and evaluation of logical definitions

Paul N. Schofield, Sebastian Bauer, Peter N. Robinson, 2011, BMC Bioinformatics.

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

Sebastian Bauer, Thorsten Dickhaus, Peter M. Krawitz, 2011, Nucleic acids research.

Bayesian ontology querying for accurate and noise-tolerant semantic searches

Marcel H. Schulz, Sebastian Bauer, Peter N. Robinson, 2012, Bioinform..

Exact score distribution computation for ontological similarity searches

Marcel H. Schulz, Sebastian Bauer, Peter N. Robinson, 2011, BMC Bioinformatics.

Improved detection of overrepresentation of Gene-Ontology annotations with parent-child analysis

Martin Vingron, Sebastian Bauer, Peter N. Robinson, 2007, Bioinform..

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions

Marcel H. Schulz, Sebastian Bauer, Sebastian Köhler, 2010, Nucleic acids research.

Continuous Integration of Open Biological Ontology Libraries

Sebastian Bauer, Seth Carbon, Suzanna E. Lewis, 2012 .

An Improved Statistic for Detecting Over-Represented Gene Ontology Annotations in Gene Sets

Martin Vingron, Sebastian Bauer, Peter N. Robinson, 2006, RECOMB.

Promiscuous and Depolarization‐Induced Immediate‐Early Response Genes Are Induced by Mechanical Strain of Osteoblasts

P. Robinson, Sebastian Bauer, S. Mundlos, 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Model-based gene set analysis for Bioconductor

Sebastian Bauer, Peter N. Robinson, Julien Gagneur, 2011, Bioinform..

Bayesian Networks for Modeling and Inferring Gene Regulatory Networks

Sebastian Bauer, Peter N. Robinson, Sebastian Bauer, 2010 .

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions

Sebastian Bauer, Angelika Pletschacher, Peter N. Robinson, 2010, Nucleic acids research.

Jannovar: A Java Library for Exome Annotation

D. Smedley, P. Robinson, Sebastian Bauer, 2014, Human mutation.

Exact Score Distribution Computation for Similarity Searches in Ontologies

Martin Vingron, Marcel H. Schulz, Sebastian Bauer, 2009, WABI.

BIOINFORMATICS Microindel detection in short-read sequence data

P. Robinson, Sebastian Bauer, C. Rödelsperger, 2010 .

Model-based gene set analysis for Bioconductor

Peter N. Robinson, Sebastian Bauer, J. Gagneur, 2011, Bioinform..