Lista de obras - Sebastian Köhler - Dominio Público Uruguay

"Opposite-of"-information improves similarity calculations in phenotype ontologies

A Hierarchical Ensemble Method for DAG-Structured Taxonomies

article

A Simple Standard for Sharing Ontological Mappings (SSSOM)

artículo científico publicado en 2022

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

artículo científico publicado en 2015

Bayesian ontology querying for accurate and noise-tolerant semantic searches

artículo científico

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

artículo científico publicado en 2018

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

artículo científico publicado en 2009

Clinical interpretation of CNVs with cross-species phenotype data

artículo científico publicado en 2014

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

artículo científico publicado en 2015

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

artículo científico

Deletions of chromosomal regulatory boundaries are associated with congenital disease

artículo científico publicado en 2014

Diagnostics in human genetics : Integration of phenotypic and genomic data

artículo científico publicado en 2017

Disease insights through cross-species phenotype comparisons

artículo científico publicado en 2015

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

artículo científico publicado en 2014

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

scientific article published on 01 September 2019

Exact Score Distribution Computation for Similarity Searches in Ontologies

Exact score distribution computation for ontological similarity searches.

artículo científico publicado en 2011

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Finding our way through phenotypes

artículo científico publicado en 2015

Harmonising phenomics information for a better interoperability in the rare disease field

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Improved ontology-based similarity calculations using a study-wise annotation model.

artículo científico publicado en 2018

Improving ontologies by automatic reasoning and evaluation of logical definitions

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

scientific article published on 29 July 2020

Mondo: Unifying diseases for the world, by the world

MouseFinder: Candidate disease genes from mouse phenotype data

artículo científico publicado en 2012

Navigating the Phenotype Frontier: The Monarch Initiative

artículo científico publicado en 2016

Navigating the phenotype frontier: The Monarch Initiative

Neue Wege in der bioinformatischen Phänotypanalyse

Next-generation diagnostics and disease-gene discovery with the Exomiser

artículo científico publicado en 2015

Ontological phenotype standards for neurogenetics

artículo científico publicado en 2012

Ontology-based similarity calculations with an improved annotation model

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

artículo científico publicado en 2013

Phenotero: Annotate as you write

artículo científico publicado en 2018

Phenotero: annotate as you write

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

artículo científico publicado en 2012

Plain-language medical vocabulary for precision diagnosis.

artículo científico publicado en 2018

Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology

article

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

artículo científico publicado en 2019

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

article

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

artículo científico publicado en 2009

The Human Phenotype Ontology in 2021

artículo científico publicado en 2020

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

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

artículo científico publicado en 2014

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

artículo científico publicado en 2015

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

artículo científico publicado en 2008

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2020

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2017

The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences

The influence of disease categories on gene candidate predictions from model organism phenotypes

artículo científico publicado en 2014

Use of model organism and disease databases to support matchmaking for human disease gene discovery

artículo científico publicado en 2015

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

artículo científico publicado en 2014

Walking the interactome for prioritization of candidate disease genes

artículo científico publicado en 2008

Lista de obras de Sebastian Köhler

"Opposite-of"-information improves similarity calculations in phenotype ontologies

A Hierarchical Ensemble Method for DAG-Structured Taxonomies

A Simple Standard for Sharing Ontological Mappings (SSSOM)

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

Bayesian ontology querying for accurate and noise-tolerant semantic searches

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

Clinical interpretation of CNVs with cross-species phenotype data

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

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

Diagnostics in human genetics : Integration of phenotypic and genomic data

Disease insights through cross-species phenotype comparisons

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

Exact Score Distribution Computation for Similarity Searches in Ontologies

Exact score distribution computation for ontological similarity searches.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Finding our way through phenotypes

Harmonising phenomics information for a better interoperability in the rare disease field

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

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

Improved ontology-based similarity calculations using a study-wise annotation model.

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

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

Mondo: Unifying diseases for the world, by the world

MouseFinder: Candidate disease genes from mouse phenotype data

Navigating the Phenotype Frontier: The Monarch Initiative

Navigating the phenotype frontier: The Monarch Initiative

Neue Wege in der bioinformatischen Phänotypanalyse

Next-generation diagnostics and disease-gene discovery with the Exomiser

Ontological phenotype standards for neurogenetics

Ontology-based similarity calculations with an improved annotation model

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

Phenotero: Annotate as you write

Phenotero: annotate as you write

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

Plain-language medical vocabulary for precision diagnosis.

Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

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

The Human Phenotype Ontology in 2021

The Human Phenotype Ontology in 2024: phenotypes around the world

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

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

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

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences

The influence of disease categories on gene candidate predictions from model organism phenotypes

Use of model organism and disease databases to support matchmaking for human disease gene discovery

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

Walking the interactome for prioritization of candidate disease genes

k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology construction