Kyran Wissink
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View article: Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases Open
Summary Background Large language models (LLMs) are increasingly used in the medical field for diverse applications including differential diagnostic support. The estimated training data used to create LLMs such as the Generative Pretraine…
View article: A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery Open
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical me…
View article: Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools Open
Large language models (LLMs) show promise in supporting differential diagnosis, but their performance is challenging to evaluate due to the unstructured nature of their responses and their accuracy compared to existing diagnostic tools is …
View article: A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery Open
Summary The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, nume…