{"id":"W4405737504","doi":"10.1111/epi.18220","title":"Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study","year":2024,"lang":"en","type":"article","venue":"Epilepsia","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Epilepsy; Deletion syndrome; Generalized epilepsy; Phenotype; Family history; Epilepsy syndromes; Medicine; Pediatrics; Genetics; Psychiatry; Biology; Internal medicine; 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":[0.0007507449,0.0007303366,0.0005517178,0.001060803,0.0006571916,0.0005100316,0.0004299034,0.0005370898,0.001296225],"category_scores_gemma":[0.00216175,0.0003908721,0.0003477679,0.0007114212,0.000403039,0.0003488639,0.0005263767,0.000318973,0.000158497],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002279453,"about_ca_system_score_gemma":0.0001924241,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00236919,"about_ca_topic_score_gemma":0.001972343,"domain_scores_codex":[0.9992435,0.0001984657,0.0000722363,0.0003073187,0.0001132949,0.00006527992],"domain_scores_gemma":[0.9991513,0.0001592645,0.0003474032,0.0001192388,0.00008638435,0.0001363937],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001737581,0.00009406419,0.9957832,0.000009079353,0.00007781376,0.001645686,0.0001954274,0.00003021888,0.0009312596,0.00002220608,0.0000731513,0.0009642955],"study_design_scores_gemma":[0.00005303221,0.0003364307,0.9900592,0.000008213025,0.00005924498,0.008492509,0.0003129189,0.0002191543,0.0001487595,0.00002371996,0.000279645,0.000007292774],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996401,0.0001004209,0.00006253792,0.00001202568,0.000002586758,0.00001030055,0.0000630794,0.000002300252,0.0001066366],"genre_scores_gemma":[0.9995903,0.00005291587,0.0001041262,0.00001604225,0.00001072583,0.00001321241,0.0001467829,0.000001969064,0.00006392601],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00236919,"threshold_uncertainty_score":0.004710734,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009069387905693348,"score_gpt":0.2412101893218077,"score_spread":0.2321408014161143,"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."}}