{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002496854,0.0001865442,0.0002232305,0.0000858948,0.0001294027,0.00003469729,0.0002816942,0.000107032,0.00004850053],"category_scores_gemma":[0.000939579,0.0001603648,0.00006848248,0.00007625749,0.0001589775,0.000003186441,0.0001725805,0.00008761234,0.000002994989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004673646,"about_ca_system_score_gemma":0.000227657,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000158023,"about_ca_topic_score_gemma":0.00001099823,"domain_scores_codex":[0.9988142,0.00003338632,0.0003048662,0.0005260227,0.00009915759,0.0002223516],"domain_scores_gemma":[0.9990116,0.00006648531,0.00007162779,0.0004461598,0.0001741992,0.0002299544],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0157818,0.0008603563,0.1862698,0.002404148,0.001084219,0.00008528832,0.001400998,0.001787834,0.5391206,0.01355931,0.1518166,0.08582906],"study_design_scores_gemma":[0.006484552,0.00112371,0.05557933,0.001872465,0.0003783667,0.000009805257,0.0009847444,0.001983457,0.02039866,0.02056905,0.8896092,0.001006673],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9403787,0.004496611,0.04132215,0.01117929,0.001024749,0.0006916199,0.000311377,0.00002456593,0.0005709307],"genre_scores_gemma":[0.987591,0.0001779415,0.004119421,0.005477307,0.0006398794,0.00008779122,0.0007357671,0.00002233199,0.001148557],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7377926,"threshold_uncertainty_score":0.6539487,"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."}}