{"id":"W2911887154","doi":"10.1101/533414","title":"Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University of British Columbia","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; Leids Universitair Medisch Centrum; GlaxoSmithKline; University of Toronto; BC Children's Hospital; Universiteit Leiden","keywords":"Biology; Penetrance; Genetics; Huntington's disease; Allele; Trinucleotide repeat expansion; Huntingtin; Somatic cell; Polyglutamine tract; Disease; Germline; Gene; Phenotype; Medicine; 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":[0.0001283596,0.000241858,0.0001979538,0.0002886197,0.0001627417,0.000171504,0.00008737851,0.0001852673,0.001172821],"category_scores_gemma":[0.0003284568,0.0001104495,0.0001500223,0.0002014287,0.0001458769,0.00007964384,0.0001424143,0.0002180337,0.0001427962],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008455877,"about_ca_system_score_gemma":0.00004855096,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000725586,"about_ca_topic_score_gemma":0.0009511802,"domain_scores_codex":[0.9999099,0.00001451494,0.000009704399,0.00003127866,0.0000185581,0.0000160949],"domain_scores_gemma":[0.9997967,0.00004681235,0.00006645856,0.00001494473,0.0000137042,0.0000613491],"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":[0.002288244,0.0003763744,0.4432286,0.00008029571,0.0001983239,0.004260813,0.0003145685,0.0003136452,0.5351155,0.0001302938,0.0003168455,0.01337638],"study_design_scores_gemma":[0.00003057275,0.001002061,0.9799175,0.000007712197,0.00005821308,0.006822582,0.00006958681,0.0004440051,0.01119439,0.00006254346,0.0003848323,0.000006078178],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996562,0.00008757864,0.00009173884,0.00000471237,0.00000182764,0.000001904295,0.00004994685,0.000003614975,0.0001025088],"genre_scores_gemma":[0.999561,0.00004733755,0.00007514963,0.00001093843,0.000002831258,0.000001940754,0.0001026467,0.000002126896,0.0001960694],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001172821,"threshold_uncertainty_score":0.003923416,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02030800148738082,"score_gpt":0.2381780625186504,"score_spread":0.2178700610312696,"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."}}