{"id":"W4417513046","doi":"10.1212/wnl.0000000000214404","title":"Sequence Variants in Small CAG Repeat Expansions of the <i>HTT</i> Gene and Disease Onset and Progression in Huntington Disease","year":2025,"lang":"en","type":"article","venue":"Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Sequence (biology); Disease; Gene; Identification (biology); DNA sequencing; Phenotype; Cutoff; Sequence analysis","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":[0.0004820743,0.0003315608,0.0001995159,0.0006789995,0.0002299643,0.0003334927,0.0001617369,0.0003526139,0.0009944404],"category_scores_gemma":[0.001721417,0.0001182719,0.0001885519,0.0003401998,0.0001871453,0.0001925228,0.0001667405,0.0003104927,0.0001321512],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000240999,"about_ca_system_score_gemma":0.0001915761,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004525389,"about_ca_topic_score_gemma":0.009310444,"domain_scores_codex":[0.9998491,0.00004464493,0.00001663779,0.00004420997,0.00002940077,0.00001585649],"domain_scores_gemma":[0.9991001,0.0003695873,0.0002643291,0.00003124171,0.00007108611,0.0001636914],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006411838,0.00005664552,0.9912876,0.00001326481,0.00007994929,0.0005903877,0.0001247135,0.000196642,0.002838796,0.00002551739,0.0001027625,0.004042513],"study_design_scores_gemma":[0.00001027226,0.0001456762,0.9979075,0.000009127419,0.00003930728,0.0008628886,0.00003877169,0.0005343466,0.0003092138,0.00004546386,0.00009284468,0.000004650253],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993549,0.0002121849,0.0001103034,0.00001841093,0.00000349266,0.000003792694,0.00008085538,0.000004259184,0.0002118432],"genre_scores_gemma":[0.9994017,0.00006419415,0.0001896894,0.00001466113,0.000006207582,0.000002902025,0.0001564928,0.000003198667,0.0001609367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004525389,"threshold_uncertainty_score":0.008998096,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02452545746059902,"score_gpt":0.2825428790432779,"score_spread":0.2580174215826789,"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."}}