List of works - Sebastian Bauer

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter

scientific article

Bayesian ontology querying for accurate and noise-tolerant semantic searches

scientific article published on 26 July 2012

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

scientific article

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

scientific article published on February 2013

Deletions of chromosomal regulatory boundaries are associated with congenital disease

scientific article

Exact score distribution computation for ontological similarity searches.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 11 September 2007

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

scientific article

Improving ontologies by automatic reasoning and evaluation of logical definitions

scientific article

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

scientific article published on 24 November 2010

Jannovar: a java library for exome annotation

scientific article

Microindel detection in short-read sequence data

scientific article

Model-based gene set analysis for Bioconductor ⬇️

scientific article published on 10 May 2011

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

scientific article

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

scientific article published on 25 October 2012

Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts

scientific article

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

scientific article published on 4 August 2009

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

scientific article (publication date: 2014)

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

scientific article

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

scientific article

The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences.

scientific article published in January 2008

Walking the interactome for prioritization of candidate disease genes

scientific article published on 27 March 2008

List of works by Sebastian Bauer

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter

Bayesian ontology querying for accurate and noise-tolerant semantic searches

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

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

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Exact score distribution computation for ontological similarity searches.

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

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

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

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

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

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

Improving ontologies by automatic reasoning and evaluation of logical definitions

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

Jannovar: a java library for exome annotation

Microindel detection in short-read sequence data

Model-based gene set analysis for Bioconductor ⬇️

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

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

Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts

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

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

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

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

The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences.

Walking the interactome for prioritization of candidate disease genes