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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

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DOI

  1. Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

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  2. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

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  3. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

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  1. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

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  2. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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The Danish HNPCC register is a publically financed national database. The register gathers epidemiological and genomic data in HNPCC families to improve prognosis by screening and identifying family members at risk. Diagnostic data are generated throughout the country and collected over several decades. Until recently, paper-based reports were sent to the register and typed into the database. In the EC cofunded-INFOBIOMED network of excellence, the register was a model for electronic exchange of epidemiological and genomic data between diagnosing/treating departments and the central database. The aim of digitization was to optimize the organization of screening by facilitating combination of genotype-phenotype information, and to generate IT-tools sufficiently usable and generic to be implemented in other countries and for other oncogenetic diseases. The focus was on integration of heterogeneous data, elaboration, and dissemination of classification systems and development of communication standards. At the conclusion of the EU project in 2007 the system was implemented in 12 pilot departments. In the surgical departments this resulted in a 192% increase of reports to the database. Several gaps were identified: lack of standards for data to be exchanged, lack of local databases suitable for direct communication, reporting being time-consuming and dependent on interest and feedback.
Original languageEnglish
JournalHuman Mutation
Volume32
Issue number5
Pages (from-to)551-6
Number of pages6
ISSN1059-7794
DOIs
Publication statusPublished - 2011

    Research areas

  • Colorectal Neoplasms, Hereditary Nonpolyposis, Computational Biology, Delivery of Health Care, Denmark, Humans, Medical Informatics Applications, Registries, Software

ID: 33250519