RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
RareLink:基于 REDCap 的可扩展罕见病互操作性框架,可将国际注册库与 FHIR 和 Phenopackets 连接起来。
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00534-z
Graefe, Adam S L; Rehburg, Filip; Alkarkoukly, Samer; Danis, Daniel; Grönke, Ana; Hübner, Miriam R; Bartschke, Alexander; Debertshäuser, Thomas; Klopfenstein, Sophie A I; Saß, Julian; Fleck, Julia; Rehberg, Mirko; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Kalashnikova, Tatiana; Murguía-Favela, Luis; Derfalvi, Beata; Wright, Nicola A M; Moosa, Shahida; Ogishima, Soichi; Semler, Oliver; Wiegand, Susanna; Kühnen, Peter; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N; Thun, Sylvia; Beyan, Oya