{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005403675,0.00008149915,0.00007066171,0.00002510593,0.00007040539,0.0000166341,0.00005902781,0.0000801872,0.00001890597],"category_scores_gemma":[0.0001034801,0.00008410865,0.0000355362,0.0001266593,0.00004509889,0.000001659339,0.00005221027,0.00005696375,0.000008786435],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006620627,"about_ca_system_score_gemma":0.0001087714,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001343653,"about_ca_topic_score_gemma":0.0002533798,"domain_scores_codex":[0.9994118,0.00004607631,0.0001321694,0.0002375265,0.00003385998,0.0001385507],"domain_scores_gemma":[0.9996567,0.00003147458,0.00003070985,0.0001925696,0.00003552955,0.000053048],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00006871089,0.0005780281,0.3145366,0.0000488242,0.000190379,0.00002021851,0.0005173499,0.0006818399,0.6017702,0.01319294,0.005913202,0.06248168],"study_design_scores_gemma":[0.0007372015,0.00007559815,0.9504982,0.00001341093,0.00003735241,0.00003241933,0.0001350443,0.0001321373,0.0007772832,0.008015851,0.03929249,0.000253032],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881771,0.00644231,0.0002602582,0.003082797,0.00006668177,0.0001886006,0.00003824522,0.00001041501,0.001733608],"genre_scores_gemma":[0.9976624,0.0002392044,0.0001684635,0.0006688895,0.000026579,0.00002645555,0.0002937026,0.00001508096,0.0008992042],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6359616,"threshold_uncertainty_score":0.3429852,"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."}}