{"id":"W4225093755","doi":"10.1177/2329048x221093173","title":"Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion","year":2022,"lang":"en","type":"article","venue":"Child Neurology Open","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital; McGill University","funders":"Fonds de Recherche du Québec - Santé; Institut de recherche, Centre universitaire de santé McGill","keywords":"Phenotype; Global developmental delay; Gene; Epilepsy; Genetic heterogeneity; Intellectual disability; Inheritance (genetic algorithm); Generalized epilepsy","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0006100909,0.0002159453,0.0003221966,0.0001035686,0.0008818841,0.0001146117,0.001098437,0.00007099758,0.0007644699],"category_scores_gemma":[0.0003710724,0.000196083,0.0000367542,0.0004130954,0.0005548378,0.0001830164,0.001926967,0.0007921681,0.00004008767],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004255428,"about_ca_system_score_gemma":0.0001046104,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001128707,"about_ca_topic_score_gemma":0.00003557731,"domain_scores_codex":[0.9957675,0.001888675,0.0002721569,0.001116779,0.0004052921,0.000549596],"domain_scores_gemma":[0.9987159,0.0003584897,0.00009426136,0.0006371468,0.00002344999,0.0001707269],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01973362,0.00386518,0.5894551,0.0002497371,0.0001535037,0.004180587,0.00197148,0.009026833,0.2961406,0.0389157,0.005763985,0.03054367],"study_design_scores_gemma":[0.008210994,0.005711365,0.9188587,0.000008788535,0.00006557097,0.006966838,0.00002035229,0.007777914,0.01070483,0.007593856,0.03309176,0.0009890104],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895171,0.00002395839,0.0001384372,0.006187196,0.0002448691,0.001300917,0.00006511344,0.00006582507,0.002456569],"genre_scores_gemma":[0.9949159,0.00003055178,0.0001655951,0.004249699,0.00007728013,0.0003082591,0.00001446361,0.00004303673,0.0001952154],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3294036,"threshold_uncertainty_score":0.837041,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02101925967557678,"score_gpt":0.2621192285096379,"score_spread":0.2410999688340612,"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."}}