RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.
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| Title: | RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets. |
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| Authors: | Graefe ASL; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany. adam.graefe@charite.de.; Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. adam.graefe@charite.de., Rehburg F; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Alkarkoukly S; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Danis D; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Grönke A; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Hübner MR; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Bartschke A; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Debertshäuser T; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Klopfenstein SAI; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Saß J; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Fleck J; Center for Rare Diseases, Medical Faculty, RWTH Aachen University, Aachen, Germany., Rehberg M; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, Cologne, Germany., Zschüntzsch J; Department of Neurology, University Medical Center Goettingen, Goettingen, Germany., Nyoungui EF; Department of Medical Informatics, University Medical Center Goettingen, Goettingen, Germany., Kalashnikova T; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada., Murguía-Favela L; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada., Derfalvi B; Department of Pediatrics, Division of Immunology, Dalhousie University, IWK Health, Halifax, NS, Canada., Wright NAM; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa.; Medical Genetics, Tygerberg Hospital, Cape Town, South Africa., Ogishima S; INGEM, Tohoku University, Sendai, Miyagi, Japan.; Department of Informatics for Genomic Medicine, ToMMo, Tohoku University, Sendai, Miyagi, Japan., Semler O; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, Cologne, Germany., Wiegand S; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Center for Chronically Sick Children, Charité Universitätsmedizin Berlin, Berlin, Germany., Kühnen P; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Berlin Center for Rare Diseases-Charité University Hospital, Berlin, Germany.; Deutsches Zentrum für Kinder- und Jugendgesundheit (DZKJ), partner site Berlin, Berlin, Germany., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Haendel MA; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA., Robinson PN; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Thun S; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Beyan O; Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2025 Nov 18; Vol. 10 (1), pp. 72. Date of Electronic Publication: 2025 Nov 18. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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