{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001239009,0.0004209467,0.000252212,0.001603307,0.0002697787,0.000576545,0.0003523827,0.0006510997,0.001608254],"category_scores_gemma":[0.00264297,0.0001775883,0.0003268942,0.001278643,0.0004375469,0.0005257783,0.0006235357,0.0004293935,0.0001864644],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003362959,"about_ca_system_score_gemma":0.0002820179,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008214387,"about_ca_topic_score_gemma":0.001659795,"domain_scores_codex":[0.9994936,0.0001269946,0.00005792618,0.0001895964,0.00008126165,0.00005059745],"domain_scores_gemma":[0.9986387,0.0005765355,0.0004952304,0.000124555,0.0001024474,0.00006245448],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007859761,0.0001018323,0.8491904,0.0003391789,0.0006571873,0.006303996,0.0005869278,0.003622254,0.08767383,0.001295848,0.001479561,0.04796289],"study_design_scores_gemma":[0.00004714822,0.0001886118,0.9645336,0.0001415825,0.0002784355,0.01159983,0.0002624295,0.003557385,0.01188659,0.002136197,0.005344558,0.00002375356],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877726,0.002908002,0.005834086,0.0003473595,0.00002027561,0.00003278583,0.001931334,0.0000404849,0.001113065],"genre_scores_gemma":[0.9923401,0.00135835,0.003876779,0.0001722851,0.00002706319,0.00004009316,0.001708966,0.00001424147,0.0004622396],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001608254,"threshold_uncertainty_score":0.006552517,"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."}}