{"id":"W1981925547","doi":"10.1038/ejhg.2015.15","title":"Clinical utility gene card for: CHARGE syndrome - update 2015","year":2015,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":false,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"CHARGE syndrome; Genetics; Gene; Disease; Biology; Bioinformatics; 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":[0.002187152,0.0001406772,0.0004277264,0.00008715429,0.00005679263,0.00002571963,0.0002086137,0.00003579715,0.00009698342],"category_scores_gemma":[0.0001612126,0.0001121868,0.0003121608,0.00006014652,0.0001193586,0.00004402039,0.00008355843,0.0002792327,0.0001630239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002296737,"about_ca_system_score_gemma":0.0001226043,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":5.484376e-7,"about_ca_topic_score_gemma":0.000001497218,"domain_scores_codex":[0.9982418,0.0002465314,0.0008343164,0.000152537,0.0003121065,0.0002126476],"domain_scores_gemma":[0.9983943,0.00003008908,0.0002871276,0.0002779852,0.0005188321,0.00049169],"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":[0.003925974,0.002320654,0.4044077,0.0003506853,0.002257809,0.01208301,0.002256257,0.00001700995,0.01325314,0.0002635502,0.4211048,0.1377594],"study_design_scores_gemma":[0.00950463,0.01266918,0.4636106,0.0001148274,0.0007832854,0.004350774,0.0001718142,0.0001104444,0.002171653,0.000337074,0.5057573,0.0004184131],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902434,0.003985324,0.0003353049,0.0003349595,0.0006302524,0.0001511871,0.00002775025,0.00001565715,0.004276164],"genre_scores_gemma":[0.9942386,0.0001850297,0.002438924,0.0003086493,0.001009059,3.169543e-7,0.00001703612,0.00004099079,0.001761402],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.137341,"threshold_uncertainty_score":0.4574843,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.111816623948652,"score_gpt":0.3602336916068035,"score_spread":0.2484170676581515,"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."}}