The evidence behind the guides

Sources

Find a study, check what it supports, and follow it back to a concern.

TopicCollection

Sources for Rare-disease diagnosis

1 source

Guide citations are still under editorial review.

European Journal of Human Genetics 2026 Diagnostic benchmark

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools (original source, new tab)

Performance depends on realistic patient descriptions versus textbook cases and on the models and tools evaluated.

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