{"id":"W4385717952","doi":"10.21203/rs.3.rs-3221902/v1","title":"Expanding the genotype-phenotype spectrum in SCN8A-related disorders","year":2023,"lang":"en","type":"preprint","venue":"Research Square","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Xenon Pharmaceuticals (Canada); BC Children's Hospital; University of British Columbia","funders":"University of British Columbia; Alva Foundation; National Human Genome Research Institute; BC Children's Hospital","keywords":"Epilepsy; Phenotype; Ataxia; Genotype; Exome sequencing; Mendelian inheritance; Genetics; Cerebellar ataxia; Medicine; Bioinformatics; Biology; Neuroscience; 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":[0.0004909763,0.0008742798,0.0003607386,0.001319303,0.0003042511,0.0003883527,0.0002238038,0.0004016709,0.002161139],"category_scores_gemma":[0.001345332,0.0001104935,0.0002236913,0.0004217492,0.0004009351,0.0003088579,0.0006659197,0.0003157056,0.0003646992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001196057,"about_ca_system_score_gemma":0.0001124253,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004109018,"about_ca_topic_score_gemma":0.0005237976,"domain_scores_codex":[0.9996502,0.0001096789,0.00005165134,0.00008490111,0.00006581587,0.00003782805],"domain_scores_gemma":[0.9994641,0.000298804,0.00007948369,0.000043678,0.00006166274,0.0000522507],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001434746,0.0003741387,0.4382865,0.0002138049,0.0002087708,0.1031854,0.001791157,0.001730036,0.3335016,0.001573235,0.001956853,0.1157438],"study_design_scores_gemma":[0.0001345603,0.0006939646,0.6519771,0.0001513465,0.0002355273,0.2906562,0.00108116,0.003643571,0.03743137,0.005557446,0.008383598,0.00005417743],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942992,0.000574915,0.002452056,0.0002266166,0.00001379002,0.00001698612,0.0002595698,0.0000547148,0.002102224],"genre_scores_gemma":[0.9968129,0.0003248393,0.002234363,0.00009865101,0.00003202387,0.000010079,0.0002479786,0.00002519453,0.0002140526],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002161139,"threshold_uncertainty_score":0.007229745,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1074289123652724,"score_gpt":0.3985978549438132,"score_spread":0.2911689425785408,"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."}}