Sebastian Köhler

The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics

The paper introduces uPheno, a framework for cross-species phenomics integration by harmonizing phenotype data across species and ontologies.

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

The paper introduces LIRICAL, a likelihood ratio-based framework for genomic diagnostics that improves accuracy and interpretability in phenotype-driven rare disease diagnosis.

PEDIA: Prioritization of Exome Data by Image Analysis

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

Semantic Integration of Clinical Laboratory Tests from Electronic Health Records for Deep Phenotyping and Biomarker Discovery

The paper semantically integrates LOINC-encoded laboratory data with the Human Phenotype Ontology to identify asthma biomarkers from EHR data.

Phenotero: annotate as you write

Phenotero integrates ontology annotation into writing workflows by leveraging Zotero to reference ontology classes in clinical reports and manuscripts.

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

The paper evaluates clinical features, flow cytometry, and facial image analysis to classify GPIBDs and identify gene-specific patterns, finding that facial recognition software is most effective for gene prediction.

Ontology-based similarity calculations with an improved annotation model

This paper improves semantic similarity calculations by using study-wise annotations derived from ontology data and full-text disease descriptions.

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

The paper improves similarity calculations in phenotype ontologies by incorporating opposite class information, showing significant improvements in cosine similarity measures.

The Monarch Initiative: Insights across species reveal human disease mechanisms

The paper describes the Monarch Initiative, a platform that integrates multimodal data across species to enhance genotype-phenotype analysis and precision medicine.