{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0004026656,0.0002772812,0.0003103607,0.0001270603,0.0005477174,0.00002226736,0.0007286414,0.0000261308,0.003051752],"category_scores_gemma":[0.0008001763,0.0002076031,0.00008846887,0.0003612146,0.0003697797,0.0000362815,0.0005559129,0.0003154903,0.0000708681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002986011,"about_ca_system_score_gemma":0.0001154794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000150012,"about_ca_topic_score_gemma":0.00002175328,"domain_scores_codex":[0.9967748,0.0006676737,0.0004561409,0.000881963,0.0007368544,0.0004825685],"domain_scores_gemma":[0.9983137,0.0003440423,0.0001736838,0.000857852,0.00001942935,0.0002913534],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002086067,0.0001194375,0.008277458,0.00001239495,0.000005801292,0.0001199898,0.001203074,0.0004019132,0.8941176,0.00005619498,0.09512599,0.0003515445],"study_design_scores_gemma":[0.0101844,0.001220378,0.2466858,0.00008279474,0.000316091,0.00009608195,0.001692169,0.007910422,0.517512,0.001793717,0.2108308,0.001675372],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9888424,0.0006983553,0.00001568973,0.007360417,0.0006062072,0.000739585,0.0003230387,0.00005222309,0.001362076],"genre_scores_gemma":[0.9618899,0.0001038386,0.000007641217,0.02106236,0.000161872,0.0002633604,0.00004265864,0.00004874263,0.01641959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3766056,"threshold_uncertainty_score":0.9978596,"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."}}