{"id":"W6958436762","doi":"10.6084/m9.figshare.25017879.v1","title":"Additional file 1 of Expanding the genotype-phenotype spectrum in SCN8A-related disorders","year":2024,"lang":"en","type":"article","venue":"Figshare","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Xenon Pharmaceuticals (Canada); University of British Columbia","funders":"","keywords":"Spectrum (functional analysis); Identification (biology); Focus (optics); Key (lock)","routes":{"ca_aff":true,"ca_fund":false,"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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001465883,0.001268363,0.001385776,0.002939721,0.0006929289,0.0012473,0.001774648,0.001248708,0.8899807],"category_scores_gemma":[0.02205395,0.0007090613,0.001103625,0.002557545,0.0002898302,0.001280207,0.001273829,0.001054097,0.1760667],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007234904,"about_ca_system_score_gemma":0.001050426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004402735,"about_ca_topic_score_gemma":0.007712525,"domain_scores_codex":[0.9993463,0.0001422532,0.0001222728,0.0001859593,0.0001145297,0.00008870974],"domain_scores_gemma":[0.9724253,0.02364686,0.0009225008,0.0009923788,0.001313275,0.0006997689],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000383033,0.0001063168,0.0033763,0.002037366,0.00007499138,0.0003665636,0.00008209061,0.0004205466,0.0002952916,0.001233621,0.9710552,0.0205686],"study_design_scores_gemma":[0.00430164,0.0002712293,0.05061575,0.004145158,0.0003734775,0.004717784,0.0003420011,0.001920041,0.00108228,0.02127817,0.9107298,0.0002227009],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.0004357806,0.0000743758,0.0007723298,0.0001571607,0.00006782975,0.00009868549,0.9955518,0.000431299,0.002410722],"genre_scores_gemma":[0.01370082,0.0005368302,0.009930572,0.001616824,0.0003360866,0.001350518,0.9559742,0.001910146,0.01464402],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.8899807,"threshold_uncertainty_score":0.1569291,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007105643708344467,"score_gpt":0.2188687515603437,"score_spread":0.2117631078519992,"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."}}