{"id":"W4414370414","doi":"10.1101/2025.09.18.25335173","title":"Loss-of-function Variants in <i>CPT1C</i> : No Support for a Causal Role in Hereditary Spastic Paraplegia","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Université Laval; University of Ottawa; McMaster University; University of Toronto; McGill University","funders":"","keywords":"Hereditary spastic paraplegia; Cohort; Genetic variants; Genetic testing; Biobank; Medical genetics; Cohort study; Exome sequencing; Anticipation (artificial intelligence); Mutation","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0007937733,0.0005796421,0.0004612381,0.0008083836,0.0006006177,0.0008310319,0.0007382488,0.0005999877,0.007956069],"category_scores_gemma":[0.004084237,0.0001193382,0.0004365832,0.0008339742,0.001075211,0.0002606284,0.0003951404,0.0005250326,0.0006117425],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006377833,"about_ca_system_score_gemma":0.001149267,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03065875,"about_ca_topic_score_gemma":0.02326553,"domain_scores_codex":[0.9994506,0.0000610784,0.00004672916,0.0002305686,0.0001242374,0.00008675346],"domain_scores_gemma":[0.9974205,0.001035971,0.000528915,0.0002671593,0.0003801258,0.0003673515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004010637,0.00006431963,0.9270237,0.0005260798,0.001147171,0.00709173,0.0004835335,0.0006995763,0.02571936,0.001593529,0.008871112,0.02276934],"study_design_scores_gemma":[0.0003306424,0.0002333993,0.9633566,0.0004648025,0.001591784,0.009184183,0.0008152041,0.002685684,0.005809952,0.002392018,0.01309354,0.00004216788],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9815004,0.002914754,0.001646729,0.001816832,0.0001801389,0.0000338616,0.005143419,0.00008604579,0.006677875],"genre_scores_gemma":[0.9959685,0.0006257267,0.0004592342,0.0004536204,0.0001143977,0.00000768294,0.001763049,0.00002539168,0.0005824873],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03065875,"threshold_uncertainty_score":0.06096059,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02386812628883721,"score_gpt":0.309422027536189,"score_spread":0.2855539012473518,"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."}}