{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00039102,0.0009824482,0.0004365503,0.001888519,0.0005377954,0.001474703,0.0007241229,0.002680124,0.02299059],"category_scores_gemma":[0.00471349,0.0001356866,0.000314286,0.0006334637,0.0006580001,0.0008838464,0.0007866652,0.0009818358,0.005087996],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004855366,"about_ca_system_score_gemma":0.0008010158,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008158071,"about_ca_topic_score_gemma":0.0007057697,"domain_scores_codex":[0.9995615,0.00007925073,0.00005229618,0.0001085059,0.0001208178,0.00007754715],"domain_scores_gemma":[0.9985141,0.0005085284,0.0001125193,0.0001296686,0.0003179338,0.0004172471],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006240637,0.0001738957,0.08950673,0.0003075332,0.00004167809,0.5737875,0.0003286974,0.0005222197,0.02171143,0.01338882,0.096937,0.2026704],"study_design_scores_gemma":[0.0001379853,0.0001742006,0.03116749,0.0002414056,0.00007107871,0.8461972,0.0003592495,0.001937561,0.009464994,0.009900299,0.1002938,0.0000547906],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.5905974,0.01383675,0.02519872,0.07359352,0.007499035,0.0004899028,0.004646444,0.00243788,0.2817004],"genre_scores_gemma":[0.9563621,0.002799829,0.009940475,0.004349476,0.002686664,0.00005664836,0.001430368,0.0002492269,0.0221251],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.02299059,"threshold_uncertainty_score":0.07691115,"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."}}