{"id":"W2151519751","doi":"10.1093/bioinformatics/bti781","title":"Highly consistent patterns for inherited human diseases at the molecular level","year":2005,"lang":"en","type":"article","venue":"Bioinformatics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"Medical Research Council","keywords":"Biology; Gene; Functional genomics; Genetics; Disease; Identification (biology); Genomics; Computational biology; Phenotype; Human genetics; Human genome; Molecular genetics; Genome; Medicine","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":[],"consensus_categories":[],"category_scores_codex":[0.0006319456,0.0002528401,0.0003184413,0.001929917,0.0005307305,0.0005851943,0.0002802193,0.0004314071,0.005078863],"category_scores_gemma":[0.002594881,0.0001444763,0.0003044583,0.001327777,0.0004959125,0.0003473296,0.0006780851,0.0005714317,0.001530384],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001678004,"about_ca_system_score_gemma":0.0001986701,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004517275,"about_ca_topic_score_gemma":0.001036565,"domain_scores_codex":[0.9991094,0.0001328691,0.00009433971,0.0003676389,0.0002165591,0.0000791261],"domain_scores_gemma":[0.9969699,0.0009678188,0.0007962507,0.0006185753,0.0004166069,0.0002309234],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001452184,0.0001741053,0.2966867,0.001035653,0.0007204122,0.003514056,0.001130535,0.0008633412,0.5743905,0.006455163,0.00711176,0.1064656],"study_design_scores_gemma":[0.00004298145,0.0001986692,0.9145162,0.00005543488,0.0002877689,0.01361491,0.000435358,0.001468067,0.04219489,0.00584142,0.0212851,0.00005934388],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9379292,0.005773274,0.0320732,0.001073995,0.0001435486,0.00008013975,0.008408736,0.001182206,0.01333564],"genre_scores_gemma":[0.9776917,0.0009565947,0.01328689,0.0002691128,0.00005634675,0.00005752805,0.005287284,0.0001218545,0.002272698],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005078863,"threshold_uncertainty_score":0.01699048,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02093045068539054,"score_gpt":0.2559299069272205,"score_spread":0.2349994562418299,"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."}}