{"id":"W4206667108","doi":"10.1093/brain/awab350","title":"Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases","year":2021,"lang":"en","type":"article","venue":"Brain","topic":"Prion Diseases and Protein Misfolding","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto; University Health Network","funders":"Creutzfeldt-Jakob Disease Foundation; National Institute on Aging; Instituto de Salud Carlos III; National Health and Medical Research Council; Bundesministerium für Gesundheit; National Institutes of Health; Generalitat de Catalunya; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology; Robert Koch Institut; Centres de Recerca de Catalunya","keywords":"PRNP; Fatal familial insomnia; Biomarker; Disease; Neurodegeneration; Medicine; Biology; Prion protein; Genetics; Pathology","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":[],"consensus_categories":[],"category_scores_codex":[0.003872059,0.0006008776,0.0006483931,0.002263189,0.0003213884,0.001322314,0.0005186788,0.0009240435,0.0003971578],"category_scores_gemma":[0.01475586,0.0002843252,0.0003881055,0.001041449,0.0006781704,0.0005318411,0.0006394272,0.0003478391,0.0003256922],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002957879,"about_ca_system_score_gemma":0.0002292983,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008763177,"about_ca_topic_score_gemma":0.0006991249,"domain_scores_codex":[0.9962113,0.001274894,0.0007094005,0.0006041562,0.0009495629,0.00025065],"domain_scores_gemma":[0.9928104,0.00382951,0.001365621,0.0004930847,0.00123645,0.0002649143],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006769786,0.00003812432,0.9719136,0.0000818868,0.0001670342,0.0003411249,0.0002296268,0.0005486006,0.01048273,0.00003442301,0.0001084988,0.01537738],"study_design_scores_gemma":[0.00002563915,0.0005289096,0.9719676,0.0000827487,0.000265744,0.003837922,0.000330247,0.005117612,0.01680644,0.0002388675,0.0007693908,0.00002889099],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961046,0.002570292,0.0007258417,0.00004551049,0.00001956566,0.000008238734,0.0001369646,0.00001979777,0.0003692326],"genre_scores_gemma":[0.9988663,0.0002600568,0.0006162965,0.00001692201,0.00001028437,0.000003827705,0.0001741975,0.000002904792,0.00004912193],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003872059,"threshold_uncertainty_score":0.02047759,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00646090509466516,"score_gpt":0.254076630943774,"score_spread":0.2476157258491089,"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."}}