{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008504178,0.0006019401,0.0004948645,0.001003448,0.0004836907,0.001301652,0.0005122457,0.001484804,0.03333582],"category_scores_gemma":[0.004789775,0.0001066244,0.0002906265,0.0006335314,0.000375471,0.0007062333,0.0004601366,0.0008410324,0.008794172],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003899303,"about_ca_system_score_gemma":0.0007184997,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009689642,"about_ca_topic_score_gemma":0.001272562,"domain_scores_codex":[0.9995443,0.0001339638,0.00005592206,0.0001143442,0.00009773968,0.00005377336],"domain_scores_gemma":[0.9984838,0.0005241064,0.000160298,0.0001600309,0.0003581038,0.000313582],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002771133,0.0003515692,0.1326593,0.0005033154,0.0001140613,0.01375701,0.0002027067,0.000449965,0.0100942,0.01156085,0.3495164,0.4780195],"study_design_scores_gemma":[0.001475925,0.001107551,0.1409643,0.001119387,0.0005034512,0.07058059,0.0003717126,0.005654691,0.01697847,0.03274829,0.7283551,0.0001406648],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.4423171,0.02142328,0.02798727,0.08395771,0.0107823,0.001265558,0.02903183,0.004653745,0.3785811],"genre_scores_gemma":[0.8479244,0.005764169,0.03901529,0.01402831,0.004759651,0.0004424606,0.01364756,0.0007408953,0.07367726],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.03333582,"threshold_uncertainty_score":0.1115194,"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."}}