{"id":"W2013205521","doi":"10.1038/ejhg.2011.45","title":"Clinical utility gene card for: CHARGE syndrome","year":2011,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Dalhousie University","funders":"","keywords":"Genetics; Missense mutation; Nonsense; Exon; Gene; Biology; Point mutation; Nonsense mutation; Mutation","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":[0.001199101,0.0001177247,0.0003519099,0.00007653148,0.00006678182,0.00001063593,0.0001808457,0.0000304346,0.0002727521],"category_scores_gemma":[0.00007834276,0.0000934626,0.000366822,0.00004555939,0.0001160613,0.0000288822,0.00005677038,0.0002403215,0.00007660798],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001017678,"about_ca_system_score_gemma":0.00004781274,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":5.491946e-7,"about_ca_topic_score_gemma":0.000001010779,"domain_scores_codex":[0.9985869,0.0001662078,0.0007511008,0.0001324677,0.0001833983,0.0001799277],"domain_scores_gemma":[0.9989797,0.00002849249,0.000248316,0.0002398045,0.0002626867,0.0002410066],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002451593,0.002337676,0.7557006,0.0003613266,0.001805236,0.009480441,0.003940722,5.786886e-7,0.02636999,0.0003252656,0.01654373,0.1806829],"study_design_scores_gemma":[0.002130957,0.005991538,0.9658243,0.00005167518,0.0003198741,0.001525164,0.00005592134,0.00001060556,0.003262138,0.000108812,0.0205763,0.0001427171],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822183,0.001483936,0.0002923276,0.00003419726,0.0004037506,0.0001285245,0.00001089463,0.0000131404,0.01541497],"genre_scores_gemma":[0.9942392,0.0001523646,0.003412712,0.0001614763,0.0005684327,2.837455e-7,0.000003609592,0.00003431295,0.001427684],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2101237,"threshold_uncertainty_score":0.3811294,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1360121906429201,"score_gpt":0.3314788591547618,"score_spread":0.1954666685118417,"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."}}