{"id":"W4385185874","doi":"10.1001/jamaneurol.2023.2363","title":"Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria","year":2023,"lang":"en","type":"article","venue":"JAMA Neurology","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute on Aging; Stanley Center for Psychiatric Research, Broad Institute; Feinberg School of Medicine; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; National Institute of Mental Health; Northwestern University; Hospital for Special Surgery; University of California, San Francisco; Saint Louis University; McGill University; United Arab Emirates University; Howard Hughes Medical Institute","keywords":"Polymicrogyria; Exome sequencing; Genetics; Exome; Genetic testing; Proband; Massive parallel sequencing; Medicine; Biology; Epilepsy; Mutation; DNA sequencing; Psychiatry; Gene","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":[0.000304391,0.0000505662,0.0001495164,0.00009848645,0.00002427982,0.00001057452,0.00003641342,0.0000621343,0.00001626989],"category_scores_gemma":[0.0001502136,0.00003362257,0.00001652923,0.0001533018,0.00008688869,0.000031404,0.00005418378,0.0001142416,0.000009309038],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007008949,"about_ca_system_score_gemma":0.00004727699,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002953843,"about_ca_topic_score_gemma":0.00007210131,"domain_scores_codex":[0.9993824,0.00008640842,0.0001647682,0.0001531471,0.00007557533,0.0001377256],"domain_scores_gemma":[0.9995959,0.0001603242,0.00004276597,0.0001315095,0.00001728651,0.00005225913],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002247092,0.00004175828,0.08404834,0.0001068263,0.00007972124,0.0004634774,0.001671707,0.000006103619,0.8706439,0.006221595,0.0005501208,0.03391939],"study_design_scores_gemma":[0.009201294,0.0006976454,0.9199432,0.00001922373,0.00005042196,0.0003474403,0.0001789585,0.002996575,0.04934758,0.01689814,0.0002574456,0.00006214721],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820198,0.0006282958,0.00001788595,0.01696352,0.00003731218,0.0002588395,0.000004832132,0.00001632894,0.00005311778],"genre_scores_gemma":[0.9983609,0.0008001826,0.00004560229,0.0004384159,0.00003258718,0.00001897311,0.0000113318,0.000006673799,0.0002853787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8358948,"threshold_uncertainty_score":0.1371089,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03435733832717369,"score_gpt":0.299082208048905,"score_spread":0.2647248697217313,"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."}}