{"id":"W7161937866","doi":"10.82308/24364","title":"Genetics of hereditary spastic paraplegia","year":2021,"lang":"en","type":"dissertation","venue":"","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Hereditary spastic paraplegia; Genetic heterogeneity; Sanger sequencing; Exome sequencing; Spasticity; Gene; Genetic counseling; Genetic testing; Spastic","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002473211,0.0009768398,0.0003100974,0.001518269,0.0007076838,0.0003657716,0.0004586116,0.0004852273,0.002797674],"category_scores_gemma":[0.0006071505,0.0001644713,0.0002416559,0.00154005,0.00100225,0.0001830747,0.0005278468,0.0002911351,0.0002117622],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001729256,"about_ca_system_score_gemma":0.002709639,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03669105,"about_ca_topic_score_gemma":0.03099104,"domain_scores_codex":[0.9996792,0.00005486091,0.00002566367,0.00006497496,0.000106666,0.00006871165],"domain_scores_gemma":[0.9996439,0.00009100653,0.0001044481,0.00001188109,0.00008129069,0.00006747666],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006614198,0.000184744,0.7912623,0.0007086169,0.0004272142,0.09784022,0.001960995,0.002804686,0.04307286,0.007748072,0.005046775,0.04828205],"study_design_scores_gemma":[0.00008985203,0.0003633594,0.8263512,0.0003088842,0.0004775423,0.1473294,0.0008952192,0.001985053,0.005722678,0.004379794,0.0120492,0.00004784076],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9815342,0.005221065,0.002078278,0.001033013,0.00003836996,0.00008318541,0.0006849916,0.00008347325,0.009243401],"genre_scores_gemma":[0.9956359,0.00184505,0.0009752504,0.0001708198,0.00005293513,0.00001625348,0.0004336897,0.000009053284,0.0008609507],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03669105,"threshold_uncertainty_score":0.07295495,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03517751520054344,"score_gpt":0.2818785923429591,"score_spread":0.2467010771424157,"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."}}