Evaluating algorithmic approaches to rare disease case-finding: a retrospective validation study using electronic health records.

Orphanet J Rare Dis · 2026 · PMC13041464 · PMID 41639879

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highly significantno p-value reported

Many of the algorithms showed a highly significant clinical impact for positive results, with a median LR + of 1167 (IQR: 125–4006). 40 of 42 performed with an LR+ above 10, and 34 with an LR+ above 100.

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