{"id":"W3188061514","doi":"10.1017/cjn.2021.188","title":"Anticipation Can Be More Common in Hereditary Spastic Paraplegia with <i>SPAST</i> Mutations Than It Appears","year":2021,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute for Medical Research Development; University of Social Welfare and Rehabilitation Sciences","keywords":"Anticipation (artificial intelligence); Proband; Hereditary spastic paraplegia; Genetics; Multiplex ligation-dependent probe amplification; Genetic heterogeneity; Age of onset; Biology; Sanger sequencing; Phenotype; Gene; Disease; Mutation; Medicine; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"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":[0.000241714,0.0007082158,0.0002949701,0.0009740429,0.0002991411,0.0002211932,0.0002294848,0.0004587762,0.003785763],"category_scores_gemma":[0.001004761,0.0001418507,0.0003105039,0.0006133263,0.0003722086,0.0002306954,0.000332402,0.0002876722,0.0005155779],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000111777,"about_ca_system_score_gemma":0.0001533765,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003890792,"about_ca_topic_score_gemma":0.0004818086,"domain_scores_codex":[0.9997807,0.00004253928,0.00002926447,0.00006001759,0.000046289,0.00004120596],"domain_scores_gemma":[0.9990048,0.000211726,0.000574289,0.00004997832,0.00005804823,0.0001013383],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001523976,0.000185132,0.7621896,0.000311552,0.00022323,0.1089546,0.0005548154,0.0003302522,0.08840933,0.0007343402,0.001334776,0.03524845],"study_design_scores_gemma":[0.00006763452,0.0007239333,0.6801617,0.00008275651,0.000202489,0.2998364,0.0003133898,0.0005772277,0.01237591,0.001031678,0.004587513,0.00003931086],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973176,0.0004193781,0.0007978767,0.00006590055,0.0000169749,0.00001019767,0.0001247526,0.00006129604,0.001186015],"genre_scores_gemma":[0.9988953,0.0001507845,0.0003928515,0.0000521058,0.00003440769,0.000005669935,0.0001772945,0.000008575115,0.0002830296],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003785763,"threshold_uncertainty_score":0.01266462,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05283658112072994,"score_gpt":0.2870776240825339,"score_spread":0.234241042961804,"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."}}