{"id":"W6977792438","doi":"10.6084/m9.figshare.19218762.v1","title":"Additional file 1 of Rare disorders have many faces: in silico characterization of rare disorder spectrum","year":2022,"lang":"en","type":"article","venue":"Figshare","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; University of Calgary","funders":"","keywords":"Table (database); In silico; Ontology; Phenotype; Term (time); Gene ontology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.00133217,0.001351175,0.0009153569,0.002020079,0.0008158529,0.001431383,0.001561606,0.001031435,0.7250369],"category_scores_gemma":[0.01326752,0.0005244996,0.001266283,0.002033714,0.0002670486,0.001223206,0.0009791981,0.0008924706,0.1293966],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000718887,"about_ca_system_score_gemma":0.001273579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004458117,"about_ca_topic_score_gemma":0.008403654,"domain_scores_codex":[0.9995197,0.00009752507,0.00005830991,0.0001800227,0.00008244011,0.00006197759],"domain_scores_gemma":[0.9911003,0.007063928,0.0003768772,0.0005559734,0.0006047185,0.0002982762],"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":[0.0005746126,0.0001429906,0.01080813,0.002681847,0.0001281738,0.0003009371,0.00009687201,0.001508239,0.0006518343,0.001054194,0.9693728,0.01267937],"study_design_scores_gemma":[0.004471402,0.0004094193,0.05749419,0.002775017,0.00056121,0.00295852,0.0006324613,0.01193909,0.003980702,0.01907843,0.8954514,0.0002480346],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"other","genre_scores_codex":[0.0005186549,0.00002260584,0.0009673803,0.00009432278,0.00002253021,0.00005961341,0.9966522,0.0008815775,0.0007811904],"genre_scores_gemma":[0.009361582,0.0001038636,0.007460305,0.0004130104,0.00006173307,0.0006739217,0.9763294,0.001569867,0.004026233],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.7250369,"threshold_uncertainty_score":0.3922015,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006475988034207071,"score_gpt":0.1964633889523926,"score_spread":0.1899874009181855,"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."}}