{"id":"W2618051026","doi":"10.1038/ejhg.2017.72","title":"Clinical utility gene card for: Tangier disease","year":2017,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"","keywords":"Tangier disease; Genetics; Gene; Disease; Biology; Computational biology; Medicine; Internal 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001614607,0.000130868,0.0003829632,0.00005036445,0.0002472087,0.00007749292,0.0003833115,0.00002516028,0.0000355869],"category_scores_gemma":[0.000382649,0.0001025106,0.0004455387,0.00001300204,0.0001963092,0.00005306667,0.0001067787,0.0002824725,0.00002100551],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000107558,"about_ca_system_score_gemma":0.00008368978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":2.421516e-7,"about_ca_topic_score_gemma":6.965093e-7,"domain_scores_codex":[0.9984504,0.0001939602,0.0007351841,0.0001661279,0.0002615591,0.0001927679],"domain_scores_gemma":[0.9977774,0.00002693642,0.0005822065,0.0007756108,0.0003046498,0.0005331917],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001483315,0.0008553174,0.6986449,0.0001687416,0.0005017435,0.001564665,0.0004710944,0.00001021951,0.009945667,0.0000951218,0.03082583,0.2554333],"study_design_scores_gemma":[0.002741234,0.0004570352,0.8011111,0.00005747175,0.0003676241,0.00005007339,0.00001094381,0.00001973325,0.0002582218,0.00007650289,0.1947686,0.00008143876],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923758,0.001926401,0.0007063046,0.000530887,0.001279798,0.0001509276,0.00001912766,0.000008704648,0.003002052],"genre_scores_gemma":[0.9899513,0.0003304958,0.002503502,0.000420688,0.005446503,3.678346e-7,0.000004769535,0.00004076817,0.001301609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2553519,"threshold_uncertainty_score":0.4180261,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1066710275485309,"score_gpt":0.3862972616878496,"score_spread":0.2796262341393186,"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."}}