Literature DB >> 26958224

Towards data integration automation for the French rare disease registry.

Meriem Maaroufi1, Rémy Choquet1, Paul Landais2, Marie-Christine Jaulent3.   

Abstract

Building a medical registry upon an existing infrastructure and rooted practices is not an easy task. It is the case for the BNDMR project, the French rare disease registry, that aims to collect administrative and medical data of rare disease patients seen in different hospitals. To avoid duplicating data entry for health professionals, the project plans to deploy connectors with the existing systems to automatically retrieve data. Given the data heterogeneity and the large number of source systems, the automation of connectors creation is required. In this context, we propose a methodology that optimizes the use of existing alignment approaches in the data integration processes. The generated mappings are formalized in exploitable mapping expressions. Following this methodology, a process has been experimented on specific data types of a source system: Boolean and predefined lists. As a result, effectiveness of the used alignment approach has been enhanced and more good mappings have been detected. Nonetheless, further improvements could be done to deal with the semantic issue and process other data types.

Entities:  

Mesh:

Year:  2015        PMID: 26958224      PMCID: PMC4765585     

Source DB:  PubMed          Journal:  AMIA Annu Symp Proc        ISSN: 1559-4076


  4 in total

1.  Formalizing mappings to optimize automated schema alignment: application to rare diseases.

Authors:  Meriem Maaroufi; Rémy Choquet; Paul Landais; Marie-Christine Jaulent
Journal:  Stud Health Technol Inform       Date:  2014

2.  A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.

Authors:  Rémy Choquet; Meriem Maaroufi; Albane de Carrara; Claude Messiaen; Emmanuel Luigi; Paul Landais
Journal:  J Am Med Inform Assoc       Date:  2014-07-18       Impact factor: 4.497

3.  CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Authors:  Claude Messiaen; Loïc Le Mignot; Ana Rath; Jean-Baptiste Richard; Eric Dufour; Mohamed Ben Said; Jean-Philippe Jais; Alain Verloes; Martine Le Merrer; Christine Bodemer; Geneviève Baujat; Marion Gerard-Blanluet; Eva Bourdon-Lanoy; Rémi Salomon; Ségolène Ayme; Paul Landais
Journal:  Stud Health Technol Inform       Date:  2008

4.  BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing.

Authors:  Chao Pang; Dennis Hendriksen; Martijn Dijkstra; K Joeri van der Velde; Joel Kuiper; Hans L Hillege; Morris A Swertz
Journal:  J Am Med Inform Assoc       Date:  2014-10-31       Impact factor: 4.497

  4 in total
  3 in total

Review 1.  Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research.

Authors:  Peipei Song; Jiangjiang He; Fen Li; Chunlin Jin
Journal:  Intractable Rare Dis Res       Date:  2017-02

2.  Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.

Authors:  Nicolas Garcelon; Antoine Neuraz; Rémi Salomon; Nadia Bahi-Buisson; Jeanne Amiel; Capucine Picard; Nizar Mahlaoui; Vincent Benoit; Anita Burgun; Bastien Rance
Journal:  Orphanet J Rare Dis       Date:  2018-05-31       Impact factor: 4.123

3.  Recommendations for Improving the Quality of Rare Disease Registries.

Authors:  Yllka Kodra; Jérôme Weinbach; Manuel Posada-de-la-Paz; Alessio Coi; S Lydie Lemonnier; David van Enckevort; Marco Roos; Annika Jacobsen; Ronald Cornet; S Faisal Ahmed; Virginie Bros-Facer; Veronica Popa; Marieke Van Meel; Daniel Renault; Rainald von Gizycki; Michele Santoro; Paul Landais; Paola Torreri; Claudio Carta; Deborah Mascalzoni; Sabina Gainotti; Estrella Lopez; Anna Ambrosini; Heimo Müller; Robert Reis; Fabrizio Bianchi; Yaffa R Rubinstein; Hanns Lochmüller; Domenica Taruscio
Journal:  Int J Environ Res Public Health       Date:  2018-08-03       Impact factor: 3.390

  3 in total

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