Evaluating algorithmic approaches to rare disease case-finding: a retrospective validation study using electronic health records.
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All Authors
Boardman-Pretty, F.
Kumar, J.
Grant, C.
Marchini, E.
Evans, W.
Menzies, L.
Dubis, R.
Worker, A.
Varones, E.
Warren, A.
LTHT Author
Evans, William
LTHT Department
Pathology
Clinical Genetics
Yorkshire Regional Genetics Service
Clinical Genetics
Yorkshire Regional Genetics Service
Non Medic
Publication Date
2026
Item Type
Journal Article
Language
Subject
ALGORITHMS , HOSPITALISATION , DIAGNOSIS , HEALTH AND CARE RECORDS , RARE DISEASES , VALIDATION STUDIES [PUBLICATION TYPE]
Subject Headings
Abstract
Journal
Orphanet Journal Of Rare Diseases