{"id":"W2071919361","doi":"10.1002/humu.22106","title":"A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome","year":2012,"lang":"en","type":"article","venue":"Human Mutation","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute for Research in Immunology and Cancer; Université de Montréal","funders":"Danmarks Grundforskningsfond; National Research Foundation","keywords":"Missense mutation; Biology; Genetics; Phenotype; CHARGE syndrome; Gene; Mutation; Pathogenicity","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":[0.0002642618,0.00007743107,0.0001513156,0.0001167187,0.00004407377,0.000006418407,0.00004147103,0.00004822156,0.00001772228],"category_scores_gemma":[0.00009343139,0.00005644297,0.00004265603,0.0001944586,0.00001956579,0.00007404634,0.00001284302,0.0000647999,0.0000677111],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006050982,"about_ca_system_score_gemma":0.00001975135,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004014915,"about_ca_topic_score_gemma":0.00001239501,"domain_scores_codex":[0.9993239,0.00004613532,0.0002159484,0.0001061974,0.0001639157,0.0001439083],"domain_scores_gemma":[0.9995798,0.00006955445,0.0000735863,0.0001594569,0.00005000272,0.00006757014],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001294793,0.0003997759,0.01974577,0.001051237,0.00005571132,0.00004764188,0.005316676,0.000001956234,0.9645831,0.005377014,0.00004880908,0.003242849],"study_design_scores_gemma":[0.0007875738,0.0002157798,0.9937403,0.0002334568,0.00007240067,0.0003005271,0.0004003103,0.0003711808,0.003787125,0.00000645605,0.00002599701,0.00005890885],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977567,0.0001889235,0.0002277599,0.00007779886,0.0001228656,0.0007090047,0.000007104916,0.0000304568,0.0008794347],"genre_scores_gemma":[0.9994444,0.000001255919,0.00006242624,0.00004327675,0.00007298946,0.00005965002,0.00003013702,0.00001186787,0.000274],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9739945,"threshold_uncertainty_score":0.2301678,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02446440156424695,"score_gpt":0.2677562443779326,"score_spread":0.2432918428136856,"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."}}