{"id":"W2086104421","doi":"10.1111/epi.12663","title":"Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo <i>GRIN2A</i> mutation","year":2014,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Alberta Children's Hospital; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Ontario Genomics Institute; Government of Canada","keywords":"Global developmental delay; Exome sequencing; Epilepsy; Missense mutation; Medicine; Seizure types; Neuroscience; Mutation; Pediatrics; Genetics; Psychology; Phenotype; Biology","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":[0.0001379308,0.001184375,0.0003634866,0.0007104066,0.000719818,0.0003469285,0.0003461252,0.001147778,0.001379519],"category_scores_gemma":[0.0006632392,0.0002415152,0.0003738282,0.0002895998,0.0004841669,0.0002877654,0.0005171021,0.0005429407,0.000286121],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000279635,"about_ca_system_score_gemma":0.0002254017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001556066,"about_ca_topic_score_gemma":0.002478514,"domain_scores_codex":[0.9998419,0.00001307711,0.00001714483,0.00007019747,0.00002437171,0.00003328611],"domain_scores_gemma":[0.9997826,0.00007283512,0.00005362352,0.00000852989,0.00001562285,0.00006683236],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001599399,0.00007421194,0.03599331,0.00004982487,0.00003553306,0.9201154,0.0007684156,0.000385059,0.03527265,0.0002970505,0.0007101903,0.006138353],"study_design_scores_gemma":[0.00001926081,0.0002345789,0.04057218,0.00001779086,0.00006050382,0.9501702,0.0002826616,0.0007204614,0.006063513,0.0002422166,0.001598022,0.00001863979],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967321,0.000201397,0.0009835936,0.0004043137,0.0000246423,0.000025019,0.0003240533,0.00004824815,0.001256709],"genre_scores_gemma":[0.9977544,0.0001658621,0.001053791,0.0001341512,0.00002715349,0.000008800276,0.0001231362,0.00001602354,0.0007166941],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001556066,"threshold_uncertainty_score":0.004614949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01039322055517762,"score_gpt":0.2274118521972616,"score_spread":0.217018631642084,"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."}}