{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003402098,0.0002233951,0.0001661646,0.0001352236,0.0001693711,0.00007461265,0.0004352595,0.0001105328,0.00002554552],"category_scores_gemma":[0.0001389403,0.0002262004,0.0001734657,0.0003782612,0.00008530658,0.000009599619,0.0003665777,0.000108723,0.00001682301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007833391,"about_ca_system_score_gemma":0.0007486832,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002588497,"about_ca_topic_score_gemma":0.00007895733,"domain_scores_codex":[0.9979143,0.0002031484,0.0002425758,0.0007284594,0.0003298878,0.0005816758],"domain_scores_gemma":[0.9984916,0.00001387938,0.00003149271,0.0007184225,0.0001666404,0.0005779609],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.004508087,0.001784888,0.008651686,0.0004236829,0.0001811417,0.001066877,0.00006971211,0.01693081,0.01101781,0.9337071,0.01807432,0.003583938],"study_design_scores_gemma":[0.002087148,0.0001157832,0.0145577,0.0002069662,0.0001147856,0.000002381828,0.000403206,0.01957539,0.001949642,0.951129,0.009090872,0.0007671418],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9512119,0.008685273,0.03226913,0.001712452,0.0003766556,0.0009912978,0.0008189718,0.00005428661,0.003879986],"genre_scores_gemma":[0.9970466,0.0002091875,0.0002448317,0.0007478295,0.00007910383,0.0002100229,0.0004991394,0.00002239496,0.0009409084],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04583463,"threshold_uncertainty_score":0.9224185,"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."}}