Tudor Groza

RD-Embed improves rare-disease diagnosis by aligning clinical text and SNOMED codes through a three-stage framework, achieving better retrieval performance than existing models.

The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.

The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.

The paper introduces a consensus score method to combine statistical results from multiple resources and applies it to detect sexual dimorphism in haematological data from the IMPC.

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

The paper describes the development and deployment of an open-source information retrieval and extraction system in a UK hospital to improve data flow and governance while supporting clinical and research needs.

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

The paper introduces the Monarch Initiative, a resource that unifies genomic and phenotypic data across species to improve understanding of health and disease.