Author

Julius O. B. Jacobsen

Queen Mary University of London

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Genetic & Genomic Medicine· 1

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Organism:human· 1

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Adam S L GraefeiD· 1 shared Andrew W. Schmeder· 1 shared Carlo KrolliD· 1 shared Chris MungalliD· 1 shared Damian P. SmedleyiD· 1 shared Daniel DanisiD· 1 shared Daniel KorniD· 1 shared Elena CasiraghiiD· 1 shared

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2026-2026 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Adam S L GraefeORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedFeb 24, 2026

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

Justin Reese, Leonardo Chimirri, Yasemin Bridges…·Peter N. Robinson

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.

5 citationstop 2%

humanbenchmark study

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