{"id":"W4416337926","doi":"10.1038/s41525-025-00534-z","title":"RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets","year":2025,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Alberta Children's Hospital; University of Calgary","funders":"National Human Genome Research Institute; Division of Research Capacity Development; Medical Research Council; Dalhousie University; Bundesministerium für Bildung und Forschung; South African Medical Research Council; Sugar Research and Development Corporation; Children's Hospital Foundation; Deutsche Forschungsgemeinschaft; Alberta Children's Hospital Foundation; Immunodeficiency Canada; Keio University; National Institutes of Health; Universiteit Stellenbosch","keywords":"Interoperability; Rare disease; Health information exchange; Data exchange; Disease registry; Health care; Scalability; Scope (computer science); Electronic data interchange","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01968187,0.00169781,0.001438111,0.005608079,0.001737325,0.007764638,0.005171858,0.002763058,0.01061672],"category_scores_gemma":[0.02799875,0.001608917,0.004639491,0.003713644,0.001656996,0.008156619,0.01403787,0.003525852,0.007109369],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003103392,"about_ca_system_score_gemma":0.007620979,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02264406,"about_ca_topic_score_gemma":0.01816234,"domain_scores_codex":[0.9917452,0.002145157,0.001596373,0.001738971,0.002109238,0.0006651118],"domain_scores_gemma":[0.9873002,0.004404204,0.001042625,0.004155671,0.001930053,0.001167129],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002111787,0.0007511225,0.02154336,0.003378406,0.00124174,0.003450827,0.003763512,0.05787406,0.01168571,0.2876476,0.3827995,0.2237523],"study_design_scores_gemma":[0.0004852916,0.0001860473,0.006343043,0.001186663,0.0002754488,0.00142757,0.0007478799,0.1634844,0.01302526,0.14934,0.6629623,0.0005362202],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.00439644,0.0005370211,0.8163235,0.001748169,0.0003391759,0.00144514,0.02809364,0.1387415,0.008375377],"genre_scores_gemma":[0.07877052,0.001240486,0.685133,0.003180852,0.0002900414,0.003001489,0.2003732,0.01966783,0.008342592],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.02264406,"threshold_uncertainty_score":0.1040889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01232150609859288,"score_gpt":0.2940947916360851,"score_spread":0.2817732855374922,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}