Adam S L Graefe

The paper identifies pathogenic variants in 15.8% of CP patients and finds only 16 of 60 genes have significant CP association.

This study benchmarks large language models against a traditional diagnostic tool for genetic disease diagnosis using 5,213 case reports, finding LLMs lag behind in accuracy.

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

RareLink enables interoperability between REDCap and global health standards by exporting data to Phenopackets and FHIR, improving rare disease research scalability and data reuse.

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.