Searching for rare diseases in PubMed: a blind comparison of Orphanet expert query and query based on terminological knowledge.

Griffon, N; Schuers, M; Dhombres, F; Merabti, T; Kerdelhué, G; Rollin, L; Darmoni, S J

Griffon, N; Schuers, M; Dhombres, F; Merabti, T; Kerdelhué, G; Rollin, L; Darmoni, S J.

Afiliación

Griffon N; Department of Biomedical Informatics, Rouen University Hospital, TIBS, LITIS EA 4108, Rouen University, 76031, Rouen Cedex, France. nicolas.griffon@chu-rouen.fr.
Schuers M; INSERM, U1142, LIMICS, 75006, Paris, France; Sorbonne Universités, UPMC Univ Paris 06 UMR_S 1142, LIMICS, 75006, Paris, France; Univ Paris 13, Sorbonne Paris Cité, LIMICS (UMR_S 1142), 93430, Villetaneuse, France. nicolas.griffon@chu-rouen.fr.
Dhombres F; Department of Biomedical Informatics, Rouen University Hospital, TIBS, LITIS EA 4108, Rouen University, 76031, Rouen Cedex, France.
Merabti T; Department of Family Practice, Rouen University, Rouen, France.
Kerdelhué G; INSERM, U1142, LIMICS, 75006, Paris, France; Sorbonne Universités, UPMC Univ Paris 06 UMR_S 1142, LIMICS, 75006, Paris, France; Univ Paris 13, Sorbonne Paris Cité, LIMICS (UMR_S 1142), 93430, Villetaneuse, France.
Rollin L; Service de Médecine FÅtale, Hôpital Trousseau - Hôpitaux Universitaires de l'Est Parisien (APHP), Université Pierre et Marie Curie, Paris, France.
Darmoni SJ; Department of Biomedical Informatics, Rouen University Hospital, TIBS, LITIS EA 4108, Rouen University, 76031, Rouen Cedex, France.

BMC Med Inform Decis Mak ; 16: 101, 2016 08 02.

Article en En | MEDLINE | ID: mdl-27484923

RESUMEN

BACKGROUND: Despite international initiatives like Orphanet, it remains difficult to find up-to-date information about rare diseases. The aim of this study is to propose an exhaustive set of queries for PubMed based on terminological knowledge and to evaluate it versus the queries based on expertise provided by the most frequently used resource in Europe: Orphanet. METHODS: Four rare disease terminologies (MeSH, OMIM, HPO and HRDO) were manually mapped to each other permitting the automatic creation of expended terminological queries for rare diseases. For 30 rare diseases, 30 citations retrieved by Orphanet expert query and/or query based on terminological knowledge were assessed for relevance by two independent reviewers unaware of the query's origin. An adjudication procedure was used to resolve any discrepancy. Precision, relative recall and F-measure were all computed. RESULTS: For each Orphanet rare disease (n = 8982), there was a corresponding terminological query, in contrast with only 2284 queries provided by Orphanet. Only 553 citations were evaluated due to queries with 0 or only a few hits. There were no significant differences between the Orpha query and terminological query in terms of precision, respectively 0.61 vs 0.52 (p = 0.13). Nevertheless, terminological queries retrieved more citations more often than Orpha queries (0.57 vs. 0.33; p = 0.01). Interestingly, Orpha queries seemed to retrieve older citations than terminological queries (p < 0.0001). CONCLUSION: The terminological queries proposed in this study are now currently available for all rare diseases. They may be a useful tool for both precision or recall oriented literature search.

Asunto(s)

Bibliografías como Asunto; PubMed; Enfermedades Raras; Terminología como Asunto; Vocabulario Controlado; Humanos

Palabras clave

Bibliography as topic; PubMed; Rare diseases; Terminology as topic

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Bibliografías como Asunto / Vocabulario Controlado / Enfermedades Raras / PubMed / Terminología como Asunto Límite: Humans Idioma: En Revista: BMC Med Inform Decis Mak Asunto de la revista: INFORMATICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido

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