{"id":"W4410274719","doi":"10.1101/2025.05.09.25327342","title":"Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Biomedical Text Mining and Ontologies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Interoperability; Scalability; Computer science; Rare disease; Database; World Wide Web; Disease; Medicine; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.02400248,0.001809431,0.001332496,0.007534076,0.00164762,0.009285697,0.005501883,0.002454243,0.006881232],"category_scores_gemma":[0.03473539,0.001646145,0.004345607,0.004840827,0.001978103,0.009881059,0.01469377,0.003726344,0.00561242],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002932302,"about_ca_system_score_gemma":0.008822843,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01918073,"about_ca_topic_score_gemma":0.01563723,"domain_scores_codex":[0.9896216,0.003403437,0.001833374,0.002251687,0.002201504,0.0006883033],"domain_scores_gemma":[0.9816482,0.00705198,0.001693045,0.005975518,0.002327963,0.00130335],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.001610688,0.0009705203,0.02499431,0.004450306,0.001421925,0.003601875,0.008126705,0.04587281,0.01382982,0.3071567,0.2726177,0.3153466],"study_design_scores_gemma":[0.0004005484,0.0002672485,0.007562342,0.001912359,0.000405223,0.001648744,0.001227593,0.1169665,0.01515251,0.1582877,0.6955017,0.000667384],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.004591852,0.0005347516,0.8660952,0.001749418,0.0002823064,0.001650881,0.01576684,0.1019494,0.007379371],"genre_scores_gemma":[0.05166407,0.001137724,0.8226686,0.002339062,0.0001960586,0.002482502,0.1001827,0.01337839,0.005950914],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.02400248,"threshold_uncertainty_score":0.1269388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04669301839104795,"score_gpt":0.3339551727122725,"score_spread":0.2872621543212245,"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."}}