{"id":"W2946004735","doi":"10.1016/j.ajhg.2019.04.007","title":"Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":209,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto; University of British Columbia","funders":"Hospital for Sick Children; Canadian Institutes of Health Research; Chinese Academy of Agricultural Sciences; Leids Universitair Medisch Centrum; GlaxoSmithKline; BC Children's Hospital; Universiteit Leiden","keywords":"Huntington's disease; Somatic cell; Trinucleotide repeat expansion; Biology; Disease; Neuroscience; Medicine; Genetics; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0001447276,0.0002931573,0.0002496525,0.0003424317,0.0002060272,0.0002391808,0.0002150706,0.0003226631,0.003342186],"category_scores_gemma":[0.0002104393,0.0001850125,0.0002786163,0.0001537548,0.0002477298,0.0001467242,0.0002333418,0.0005843101,0.0004662546],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001754056,"about_ca_system_score_gemma":0.0001678861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005360857,"about_ca_topic_score_gemma":0.001377029,"domain_scores_codex":[0.9998879,0.00002198759,0.0000204091,0.00003217782,0.00002188652,0.00001553136],"domain_scores_gemma":[0.9997534,0.0000502522,0.0000610835,0.00002899481,0.00001234964,0.00009384954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001018615,0.0001764914,0.001112751,0.00003494142,0.00003480955,0.0005410678,0.00001991073,0.0001185612,0.9934635,0.0002078227,0.0001684257,0.003103148],"study_design_scores_gemma":[0.0004683699,0.003017687,0.1478559,0.00005723377,0.0002922082,0.009475591,0.0001100819,0.004430975,0.8273953,0.0008116461,0.006033212,0.00005169565],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976337,0.0002803777,0.0007643619,0.00007797309,0.00003738971,0.000008819483,0.0003409898,0.00007521467,0.0007812892],"genre_scores_gemma":[0.9965432,0.0002146305,0.0008227371,0.0000895654,0.00002408954,0.00001209832,0.0004031821,0.0000506681,0.001839811],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003342186,"threshold_uncertainty_score":0.0111807,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02290044805685609,"score_gpt":0.2828801297470068,"score_spread":0.2599796816901507,"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."}}