{"id":"W4378516475","doi":"10.1111/cge.14363","title":"Investigating genotype‐to‐phenotype correlation in <scp>CHARGE</scp> syndrome by deep phenotyping and multiparametric clustering","year":2023,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Phenotype; CHARGE syndrome; Frameshift mutation; Genotype; Correlation; Genetics; Nonsense; Biology; Genotype-phenotype distinction; Gene","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":[0.0005154678,0.0002824738,0.0003035777,0.0008527999,0.0002388572,0.0004196889,0.0002013087,0.0003330094,0.0006182556],"category_scores_gemma":[0.002303926,0.0001365221,0.0002383505,0.0004921737,0.0003053577,0.0001685553,0.0005846374,0.0003408912,0.000122554],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001658205,"about_ca_system_score_gemma":0.0001670144,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008856715,"about_ca_topic_score_gemma":0.001204902,"domain_scores_codex":[0.9995694,0.0001317197,0.00003693538,0.0001356569,0.00006867933,0.00005764729],"domain_scores_gemma":[0.9987942,0.0005768287,0.0002356594,0.0001665291,0.0001062162,0.0001206267],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000743312,0.00008692647,0.9096205,0.0000289194,0.0001474999,0.001475488,0.0004844041,0.002768348,0.06459033,0.0003002064,0.0002634605,0.01949057],"study_design_scores_gemma":[0.00002635904,0.0003024268,0.9627256,0.00001020085,0.00007380557,0.004983603,0.0003193408,0.02022412,0.01002623,0.0006914556,0.0005871073,0.00002964672],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984266,0.00002150625,0.001382159,0.00001115013,9.792279e-7,0.00000474209,0.00006558339,0.000008542612,0.00007874714],"genre_scores_gemma":[0.9985546,0.00001590461,0.0011185,0.000008170365,0.000001970613,0.000007831612,0.0002158483,0.000008275603,0.00006866873],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008856715,"threshold_uncertainty_score":0.002726078,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05407470685033584,"score_gpt":0.3332864816401373,"score_spread":0.2792117747898015,"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."}}