{"id":"W3194416265","doi":"10.1093/brain/awab321","title":"Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications","year":2021,"lang":"en","type":"article","venue":"Brain","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":146,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; Alberta Children's Hospital; University of Calgary","funders":"National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Stanley Center for Psychiatric Research, Broad Institute; Intellectual and Developmental Disabilities Research Center; National Institutes of Health; Universiteit Antwerpen; Hospital for Sick Children; Eisai; GlaxoSmithKline; Deutsche Forschungsgemeinschaft; GW Pharmaceuticals; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; University of Toronto; Autism Speaks; Ministero dell’Istruzione, dell’Università e della Ricerca; Institute for Translational Medicine and Therapeutics; University of Pennsylvania; Hartwell Foundation; Children's Hospital of Philadelphia; National Institute of Neurological Disorders and Stroke; Bundesministerium für Bildung und Forschung","keywords":"Phenotype; Genotype; Genetics; Medicine; Biology; 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":[0.000243834,0.0004775142,0.0002998144,0.0004083869,0.0002204016,0.000219744,0.0001300156,0.0003731437,0.0008829651],"category_scores_gemma":[0.001199335,0.00009542165,0.0002105174,0.0002642769,0.0002995429,0.0001868869,0.0002032734,0.0002439247,0.0002413363],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007751511,"about_ca_system_score_gemma":0.00005690998,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005270841,"about_ca_topic_score_gemma":0.0005940557,"domain_scores_codex":[0.9998024,0.00005504608,0.0000260547,0.00006135646,0.00002167685,0.00003341944],"domain_scores_gemma":[0.9993322,0.0003013123,0.000221022,0.0000424527,0.00003439619,0.00006851535],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008111917,0.00004032452,0.968201,0.00001271248,0.00005951128,0.002666475,0.0001349059,0.000266591,0.01947287,0.00005426268,0.0001213965,0.0081587],"study_design_scores_gemma":[0.00001906552,0.000302606,0.988837,0.000005249146,0.00005592696,0.007080758,0.0001267777,0.0005747742,0.002510705,0.0001763754,0.000300453,0.00001039701],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994792,0.0001001991,0.0001639847,0.00002053811,0.000001715882,0.000002040624,0.00007576989,0.000003952172,0.0001526282],"genre_scores_gemma":[0.999572,0.00004600506,0.0001638634,0.00001637124,0.00000641392,0.000002416572,0.0001435797,0.000003371445,0.00004595073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008829651,"threshold_uncertainty_score":0.002953768,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006571188721500651,"score_gpt":0.2332734173651296,"score_spread":0.226702228643629,"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."}}