{"id":"W4294678077","doi":"10.1038/s41525-022-00317-w","title":"Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1","year":2022,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; Horizon 2020 Framework Programme; National Institutes of Health; Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu; Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; Universidade do Porto; Uniwersytet Warszawski; Università Cattolica del Sacro Cuore; North Bristol NHS Trust; European Commission; Umeå Universitet; Medical Research Council; Leids Universitair Medisch Centrum; Alzheimer’s Research UK; Universiteit Leiden; University of Aberdeen; Cardiff University; Istituto di Scienze e Tecnologie della Cognizione; Health and Care Research Wales; McGill University; CHDI Foundation; Uniwersytet Śląski w Katowicach; European Huntington's Disease Network; Sahlgrenska Universitetssjukhuset; University of Oxford; Brain Research Trust; EU Joint Programme – Neurodegenerative Disease Research; Central Manchester University Hospitals NHS Foundation Trust; University of Bern; Academy of Medical Sciences; Universidade de Lisboa; Warszawski Uniwersytet Medyczny; Wellcome Trust; Patrick Berthoud Charitable Trust","keywords":"Random hexamer; Biology; Genetics; Allele; Tandem repeat; Age of onset; Single-nucleotide polymorphism; Exon; Gene; Trinucleotide repeat expansion; Genetic association; Chromosome; Disease; Genome; Molecular biology; Internal medicine; Genotype; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.0007018637,0.0004067069,0.000453013,0.000811403,0.0002220752,0.0003526102,0.0003272856,0.000469738,0.002951503],"category_scores_gemma":[0.00253362,0.0001684364,0.0006629644,0.0008624023,0.0002824267,0.0001961447,0.0002307911,0.0004452683,0.0004363198],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001577723,"about_ca_system_score_gemma":0.0001096526,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001919569,"about_ca_topic_score_gemma":0.002368217,"domain_scores_codex":[0.9994218,0.0001620997,0.00006034907,0.0001918155,0.0001122114,0.00005166929],"domain_scores_gemma":[0.9971545,0.0015395,0.0007502299,0.0001793018,0.0001818017,0.0001947238],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002945574,0.0001165315,0.8955744,0.00006591815,0.0005373035,0.001342441,0.0001976699,0.0007792197,0.08874999,0.0001178684,0.000253194,0.009319762],"study_design_scores_gemma":[0.00002406803,0.0002259435,0.9915474,0.00001026444,0.0001598466,0.001581092,0.00004434566,0.00216736,0.003878743,0.0001043345,0.0002435688,0.00001295042],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985334,0.0001683644,0.0007711502,0.00002745026,0.000008436633,0.000003791235,0.000254077,0.00002040033,0.0002129641],"genre_scores_gemma":[0.9992039,0.00002585845,0.0003709831,0.00001449736,0.000006715323,0.000003090452,0.0002021344,0.00001044038,0.0001626108],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002951503,"threshold_uncertainty_score":0.009873748,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0372242100740196,"score_gpt":0.2688019630670136,"score_spread":0.231577752992994,"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."}}