{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001215633,0.0008304303,0.0008202795,0.003490791,0.0003303054,0.001740839,0.001105863,0.002682052,0.01096006],"category_scores_gemma":[0.006947219,0.0001977531,0.0006293133,0.001721974,0.0005617124,0.001234719,0.0009658631,0.001651062,0.005235123],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001196433,"about_ca_system_score_gemma":0.001664323,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00268366,"about_ca_topic_score_gemma":0.004695202,"domain_scores_codex":[0.9992335,0.0001093876,0.0001524216,0.00009400132,0.0003185998,0.00009198514],"domain_scores_gemma":[0.9959986,0.001069595,0.0004000899,0.0001336938,0.00165431,0.0007436765],"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":[0.0001594839,0.00004252094,0.008871805,0.000412836,0.00003768674,0.003736886,0.00003947834,0.0002548579,0.0006765565,0.00162479,0.651798,0.332345],"study_design_scores_gemma":[0.0001171635,0.00008812913,0.01716117,0.001749369,0.0001911311,0.02737293,0.0001145793,0.0007219723,0.001171279,0.002339713,0.9489257,0.00004676959],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"other","genre_scores_codex":[0.04803946,0.3382124,0.01581,0.2693107,0.0716225,0.0004425945,0.02133587,0.004494409,0.2307321],"genre_scores_gemma":[0.2528472,0.3496405,0.04140954,0.09947298,0.07441753,0.0004728492,0.0726959,0.001343004,0.1077004],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.01096006,"threshold_uncertainty_score":0.03666508,"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."}}