{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","sts"],"consensus_categories":["sts"],"category_scores_codex":[0.002188437,0.0005056174,0.0007228873,0.001088107,0.002335638,0.0007752285,0.002222977,0.0002485647,0.0002862304],"category_scores_gemma":[0.005623095,0.0003589043,0.0002303818,0.003647719,0.008984493,0.001395683,0.0001122809,0.002047853,0.000004753019],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002253077,"about_ca_system_score_gemma":0.004565773,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002076638,"about_ca_topic_score_gemma":0.2895818,"domain_scores_codex":[0.9920912,0.002299793,0.001202398,0.001043022,0.001383164,0.001980418],"domain_scores_gemma":[0.9948535,0.001728864,0.0007688412,0.00026738,0.0003795155,0.002001885],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002074135,0.0001861456,0.8595142,0.00001668091,0.00001296418,0.08966263,0.001284381,0.04436739,0.0006448658,0.0009199482,0.001081839,0.002101535],"study_design_scores_gemma":[0.002097146,0.09655023,0.7163744,0.0002362626,0.0001370599,0.1365592,0.003389678,0.01091135,0.002687663,0.02495237,0.004443432,0.001661168],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9586951,0.0003205818,0.00003280547,0.03763018,0.0007945509,0.0002296739,0.00004804552,0.00003127675,0.002217766],"genre_scores_gemma":[0.9774866,0.0002436179,0.0006495101,0.02138712,0.0001804559,0.000007484915,0.000001791436,0.00002286345,0.00002058304],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2875051,"threshold_uncertainty_score":0.9998863,"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."}}