{"id":"W2016910640","doi":"10.1038/ng.2331","title":"De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":753,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; North York General Hospital; Hospital for Sick Children; University of British Columbia; McGill University and Génome Québec Innovation Centre; University of Ottawa; Queen's University; McGill University; University of Calgary; Children's Hospital of Eastern Ontario","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; McGill University; National Heart, Lung, and Blood Institute; National Institute of Environmental Health Sciences; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Cancer Research UK","keywords":"Megalencephaly; Biology; Polymicrogyria; Exome sequencing; Genetics; Polydactyly; Context (archaeology); Sanger sequencing; Exome; Mutation; Gene; Neuroscience; Epilepsy","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":[0.0001097649,0.001127075,0.0003476783,0.0009448401,0.0003907232,0.0002982427,0.0003401669,0.0006430537,0.002025928],"category_scores_gemma":[0.0005355446,0.0003139276,0.0002967403,0.0007144361,0.0005666105,0.0002340108,0.0006138018,0.0003981894,0.0003703709],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002524283,"about_ca_system_score_gemma":0.0002003058,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005421529,"about_ca_topic_score_gemma":0.0008211687,"domain_scores_codex":[0.9998493,0.00001497239,0.0000209545,0.00004224452,0.00004461404,0.00002788682],"domain_scores_gemma":[0.9997221,0.00008109811,0.00008693093,0.00001904022,0.0000147326,0.00007615404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001288456,0.0002586541,0.1234424,0.0001346415,0.0001948387,0.6138221,0.0006009307,0.000688325,0.24078,0.002564805,0.001056828,0.01516791],"study_design_scores_gemma":[0.0001147192,0.0002716115,0.2385654,0.00001684385,0.0001755802,0.7385367,0.0002179387,0.0008215429,0.01855039,0.0008861641,0.001821258,0.00002186984],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973152,0.0002468312,0.0005308434,0.00007705734,0.00001090999,0.00001074957,0.0001285531,0.00003060873,0.001649211],"genre_scores_gemma":[0.9988274,0.0001467957,0.000374382,0.00003025232,0.00001580887,0.000004645507,0.0001004258,0.00001150873,0.0004886367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002025928,"threshold_uncertainty_score":0.006777406,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005595570676620725,"score_gpt":0.2528660547956109,"score_spread":0.2472704841189902,"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."}}