{"id":"W4415383356","doi":"10.56367/oag-048-12295","title":"Connecting Canada for rare disease care and research","year":2025,"lang":"en","type":"article","venue":"Open Access Government","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"York University; University of Ottawa; Canadian Respiratory Research Network; Canadian Organization for Rare Disorders; University of Calgary","funders":"","keywords":"Rare disease; Disease; Health care; Rare events; Public health; Patient care","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001051964,0.00007065599,0.00007179887,0.000007651486,0.0002571278,0.000350384,0.0005356882,0.00002376263,0.00001446748],"category_scores_gemma":[0.0001602791,0.00006609659,0.00002160297,0.00004182401,0.00001597926,0.000006743588,0.001461401,0.00003307106,1.687474e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001194852,"about_ca_system_score_gemma":0.0006009286,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.03065452,"about_ca_topic_score_gemma":0.1296297,"domain_scores_codex":[0.9992816,0.00002578237,0.00008506506,0.0002846454,0.0001569334,0.0001660121],"domain_scores_gemma":[0.9995415,0.00002788869,0.00002647929,0.0002180418,0.00008430872,0.0001017679],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.005076249,0.0004989494,0.1410248,0.002740405,0.000847335,0.0001992324,0.0006100074,0.0007104211,0.05230942,0.01173917,0.5686108,0.2156332],"study_design_scores_gemma":[0.001215154,0.0000950086,0.02084608,0.00008137626,0.0000388012,0.000001169603,0.005364941,0.00007644716,0.02760262,0.0003038523,0.944131,0.0002435983],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857611,0.003279948,0.0001057039,0.0007899112,0.0001470054,0.000814364,0.0006543893,0.000001732864,0.008445828],"genre_scores_gemma":[0.9978603,0.000139617,0.00009508452,0.000442318,0.00004520358,0.00005975528,0.0001067706,0.000008784821,0.001242242],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3755202,"threshold_uncertainty_score":0.9758005,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0330274848494273,"score_gpt":0.3957655430114321,"score_spread":0.3627380581620048,"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."}}