{"id":"W4412691884","doi":"10.1242/dmm.052401","title":"Global partnerships in rare disease research","year":2025,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; University of British Columbia","funders":"Canadian Institutes of Health Research; Genome British Columbia; Genome Canada","keywords":"Interoperability; Identification (biology); Function (biology); Disease; Collaborative network; Process (computing); Rare disease; Data science; Biology; Business; Knowledge management; Computational biology; Computer science; Medicine; Genetics; World Wide Web","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":[0.03910934,0.001074209,0.0009153229,0.003835303,0.003835512,0.007229337,0.003015831,0.004928339,0.09354147],"category_scores_gemma":[0.05924596,0.000487035,0.0008510752,0.005241787,0.002661123,0.006231926,0.02093966,0.006516474,0.01818199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008351741,"about_ca_system_score_gemma":0.1006775,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03073526,"about_ca_topic_score_gemma":0.03325176,"domain_scores_codex":[0.9797879,0.008728785,0.0009284608,0.001662081,0.005030951,0.003861808],"domain_scores_gemma":[0.886413,0.01291918,0.00376343,0.005888758,0.02645841,0.06455728],"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":[0.0001767547,0.00009456801,0.004835364,0.0006812522,0.00009047268,0.0004059299,0.0008019442,0.0003283759,0.0004086926,0.0860095,0.6990201,0.207147],"study_design_scores_gemma":[0.00006128943,0.00003159275,0.001969893,0.0004868741,0.00001697248,0.0003345202,0.0005173765,0.0001551423,0.00008507636,0.01323328,0.9830894,0.00001846215],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.004849713,0.05402843,0.01186332,0.6533083,0.01969313,0.0006630089,0.009427576,0.001573396,0.244593],"genre_scores_gemma":[0.2316712,0.1053183,0.07070698,0.2374132,0.015338,0.002827393,0.03200189,0.002278541,0.3024445],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.09354147,"threshold_uncertainty_score":0.3129274,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0616742425052613,"score_gpt":0.3395833441605731,"score_spread":0.2779091016553118,"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."}}