{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:44:59Z","timestamp":1767919499449,"version":"3.49.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,5,1]]},"abstract":"<jats:p>Objective: The repurposing of electronic health records (EHRs) can improve clinical and genetic research for rare diseases. However, significant information in rare disease EHRs is embedded in the narrative reports, which contain many negated clinical signs and family medical history. This paper presents a method to detect family history and negation in narrative reports and evaluates its impact on selecting populations from a clinical data warehouse (CDW).<\/jats:p><jats:p>Materials and Methods: We developed a pipeline to process 1.6 million reports from multiple sources. This pipeline is part of the load process of the Necker Hospital CDW.<\/jats:p><jats:p>Results: We identified patients with \u201cLupus and diarrhea,\u201d \u201cCrohn\u2019s and diabetes,\u201d and \u201cNPHP1\u201d from the CDW. The overall precision, recall, specificity, and F-measure were 0.85, 0.98, 0.93, and 0.91, respectively.<\/jats:p><jats:p>Conclusion: The proposed method generates a highly accurate identification of cases from a CDW of rare disease EHRs.<\/jats:p>","DOI":"10.1093\/jamia\/ocw144","type":"journal-article","created":{"date-parts":[[2016,10,22]],"date-time":"2016-10-22T00:20:22Z","timestamp":1477095622000},"page":"607-613","source":"Crossref","is-referenced-by-count":35,"title":["Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse"],"prefix":"10.1093","volume":"24","author":[{"given":"Nicolas","family":"Garcelon","sequence":"first","affiliation":[{"name":"Institut Imagine, Paris Descartes Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Paris, France"},{"name":"INSERM, Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, 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