{"id":"W3202780309","doi":"10.1002/ajmg.a.62505","title":"Genomic analysis of “microphenotypes” in epilepsy","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital","funders":"Epilepsy Society; Epilepsiatutkimussäätiö; Irish Research eLibrary; Pediatric Epilepsy Research Foundation; Fundación Alfonso Martín Escudero; Epilepsy Foundation","keywords":"Epilepsy; Status epilepticus; Phenotype; Epilepsy syndromes; Exome sequencing; Genetic architecture; Exome; Genetics; Copy-number variation; Bioinformatics; Biology; Computational biology; Medicine; Gene; Neuroscience; Genome","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":[0.0001931994,0.000146135,0.0001401626,0.001245975,0.0002411027,0.00028589,0.000132023,0.0002417907,0.00190123],"category_scores_gemma":[0.001026147,0.00007326456,0.0002342841,0.0007431571,0.0002062087,0.0001538007,0.0003105421,0.0001998415,0.0001304342],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000145428,"about_ca_system_score_gemma":0.0001467957,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001684189,"about_ca_topic_score_gemma":0.003028264,"domain_scores_codex":[0.9998233,0.00004416517,0.00001706322,0.00005824257,0.00003021692,0.00002701287],"domain_scores_gemma":[0.9994911,0.0001989031,0.0002073806,0.00003170049,0.00003200572,0.00003874163],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001244022,0.00004019929,0.8299825,0.0001745915,0.0005238061,0.005483448,0.0003419407,0.001265402,0.1190408,0.001343687,0.0009555088,0.03960414],"study_design_scores_gemma":[0.00001036238,0.00008360608,0.9857597,0.00001632963,0.0001143824,0.004159782,0.000153662,0.000894637,0.006772484,0.0007300648,0.00129776,0.000007108889],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968079,0.0006030445,0.0007902517,0.0001596728,0.000005421635,0.000005974216,0.000691514,0.00002180126,0.000914341],"genre_scores_gemma":[0.9987165,0.0001948495,0.000478094,0.00004300885,0.000006365683,0.000003295963,0.0003819121,0.000004579113,0.0001713926],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00190123,"threshold_uncertainty_score":0.006360292,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01849192957228915,"score_gpt":0.3307047288934754,"score_spread":0.3122127993211862,"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."}}