{"id":"W2885823448","doi":"10.1038/s41436-018-0060-2","title":"The landscape of epilepsy-related GATOR1 variants","year":2018,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":239,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre; Queen's University","funders":"National Institute of Neurological Disorders and Stroke; Epilepsy Society; Agence Nationale de la Recherche; National Institute for Health and Care Research","keywords":"Epilepsy; Medicine; Computational biology; Genetics; Evolutionary biology; Biology; Psychiatry","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":[0.000705876,0.0001090379,0.0002820178,0.0001160711,0.00006962549,0.000003287132,0.0001422058,0.000076362,0.0005235421],"category_scores_gemma":[0.0004171625,0.00005940888,0.00003402842,0.0003778194,0.0005790092,0.000009131212,0.00004859276,0.000185277,0.00006838066],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003024865,"about_ca_system_score_gemma":0.0001099187,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000419894,"about_ca_topic_score_gemma":0.00007775862,"domain_scores_codex":[0.9986131,0.00007162021,0.0003862684,0.0001859978,0.0004279571,0.0003150288],"domain_scores_gemma":[0.9988956,0.0002122213,0.00007239495,0.0004783903,0.0001800237,0.0001613067],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007024293,0.0003616666,0.9137973,0.00008453507,0.0003029605,0.0001999927,0.001423437,0.00000296921,0.007943938,0.001946401,0.0226997,0.05053473],"study_design_scores_gemma":[0.008024118,0.006176741,0.9587936,0.0004847133,0.0001277789,0.00008443357,0.0005585165,0.001086462,0.004966054,0.003724911,0.01585706,0.0001155436],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9507815,0.00608267,0.00005611305,0.005680479,0.0004451663,0.0005543329,0.000005489438,0.00002172146,0.03637257],"genre_scores_gemma":[0.9952395,0.002787226,0.0003929713,0.0001654366,0.0003131972,0.00001483623,0.00001478624,0.00001503681,0.00105699],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05041918,"threshold_uncertainty_score":0.5732418,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02475401975844882,"score_gpt":0.3317675200277292,"score_spread":0.3070135002692804,"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."}}