{"id":"W2134007691","doi":"10.1002/ana.22645","title":"Rare copy number variants are an important cause of epileptic encephalopathies","year":2011,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":246,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; Howard Hughes Medical Institute","keywords":"Copy-number variation; Epilepsy; Candidate gene; Cohort; Biology; Comparative genomic hybridization; Genetics; Phenotype; Gene; Medicine; Genome; Pathology; Neuroscience","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":[0.000271464,0.0003495495,0.0002616819,0.000721026,0.0001640224,0.0002679926,0.000234274,0.0003902164,0.003026019],"category_scores_gemma":[0.002611965,0.00009547125,0.0001200167,0.0003908154,0.0003241591,0.0001918251,0.0002491824,0.0001619678,0.0002770086],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000134027,"about_ca_system_score_gemma":0.0001019473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003608476,"about_ca_topic_score_gemma":0.000587856,"domain_scores_codex":[0.999699,0.00005175696,0.00003631718,0.00008167073,0.00009635846,0.00003480934],"domain_scores_gemma":[0.9993032,0.0003337907,0.0002518898,0.00002632425,0.00005062386,0.00003417831],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009883485,0.00006083113,0.8110428,0.0002594824,0.0002515093,0.02705707,0.0004612732,0.001099547,0.08655149,0.001124484,0.001472945,0.06963022],"study_design_scores_gemma":[0.00007745003,0.0003556703,0.8575653,0.0000895525,0.000276972,0.1138092,0.0002870437,0.002124346,0.01970557,0.001459986,0.004226096,0.00002272803],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962234,0.001393077,0.001088725,0.0001290697,0.000007720365,0.000008789974,0.0001693869,0.00003144918,0.0009482541],"genre_scores_gemma":[0.9990258,0.0002657608,0.0003604786,0.00001909853,0.00001799485,0.000003326981,0.0001045512,0.000002829081,0.0002000428],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003026019,"threshold_uncertainty_score":0.01012301,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1344434386689224,"score_gpt":0.367439720111497,"score_spread":0.2329962814425746,"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."}}