{"id":"W2761960684","doi":"10.1038/gim.2017.100","title":"De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy","year":2017,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University of Colorado School of Medicine, Anschutz Medical Campus; National Institute of Neurological Disorders and Stroke; Roy J. and Lucille A. Carver College of Medicine, University of Iowa; Feinberg School of Medicine; Perelman School of Medicine, University of Pennsylvania; Royal College of Surgeons in Ireland; Northwestern University; NYU Langone Medical Center; York University; Citizens United for Research in Epilepsy; University of Pennsylvania; Children's Hospital of Philadelphia; University of California, San Francisco; University of Melbourne","keywords":"Exome sequencing; Missense mutation; Exon; Genetics; Exome; Epilepsy; Biology; Genetic heterogeneity; Bioinformatics; Medicine; Computational biology; Gene; Mutation; Phenotype; Neuroscience","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004802065,0.0001031802,0.0001552902,0.00005102724,0.00005533092,0.00001199246,0.0005641005,0.00007124984,0.00001761569],"category_scores_gemma":[0.0003512696,0.00007332043,0.00002857402,0.00003972085,0.0002453035,0.000001689832,0.000109616,0.00008560868,0.000001474047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001226805,"about_ca_system_score_gemma":0.0000780582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000151718,"about_ca_topic_score_gemma":0.0004381497,"domain_scores_codex":[0.9991631,0.00007122748,0.0002288829,0.0002050862,0.0001349483,0.0001967758],"domain_scores_gemma":[0.9991511,0.00002343338,0.0001302515,0.0006010885,0.00004785208,0.00004629865],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002084808,0.0003879042,0.6062383,0.0000927295,0.00007552109,0.000634827,0.004354632,0.0008979041,0.3755757,0.0007085467,0.0006622006,0.01016322],"study_design_scores_gemma":[0.001985441,0.0005441735,0.9750119,0.0001383167,0.00004154416,0.00006785297,0.0009419984,0.0004221008,0.01693726,0.002327211,0.001402072,0.00018011],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957939,0.001793404,0.0001824598,0.0003166738,0.0001815347,0.0001555098,0.00001392195,9.37556e-7,0.001561656],"genre_scores_gemma":[0.9971453,0.001879907,0.0002702682,0.0003453729,0.0002695315,0.00001390353,0.0000190971,0.000009812188,0.00004682513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3687736,"threshold_uncertainty_score":0.298992,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02824509333845408,"score_gpt":0.3201736683058361,"score_spread":0.291928574967382,"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."}}