{"id":"W2087189248","doi":"10.1086/318193","title":"Measurement of Mutational Flow Implies Both a High New-Mutation Rate for Huntington Disease and Substantial Underascertainment of Late-Onset Cases","year":2001,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":70,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"","keywords":"Pedigree chart; Huntington's disease; Trinucleotide repeat expansion; Genetics; Disease; Population; Mutation rate; Allele; Biology; Genetic epidemiology; Mutation; Age of onset; Medicine; Internal medicine; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.002059893,0.0004372771,0.0005956818,0.001855407,0.0004327734,0.0006567764,0.0003299919,0.0005195827,0.002078743],"category_scores_gemma":[0.005738901,0.000182744,0.0002437236,0.0007183306,0.0005855081,0.0005883937,0.0004170704,0.0004819809,0.0003648355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002111496,"about_ca_system_score_gemma":0.0001348538,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001081582,"about_ca_topic_score_gemma":0.0009626141,"domain_scores_codex":[0.9986022,0.0004743775,0.0001804985,0.0003160663,0.0002414156,0.0001854374],"domain_scores_gemma":[0.994078,0.002976185,0.001360136,0.0007170786,0.0005376228,0.0003308547],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005759114,0.0001236966,0.9088221,0.00005193029,0.0001262323,0.000321974,0.0002853106,0.0003068578,0.0754132,0.0004463064,0.0001566979,0.01336981],"study_design_scores_gemma":[0.000007090488,0.0001941688,0.9777484,0.000005575476,0.00005261323,0.001437159,0.0001145271,0.001068989,0.01816042,0.0005720589,0.0006299654,0.000008996522],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946619,0.000322869,0.00300209,0.00005965617,0.00001363221,0.0000151079,0.0002656735,0.00005831799,0.001600912],"genre_scores_gemma":[0.9981747,0.00007565577,0.001144269,0.0000455775,0.00001375545,0.00001395299,0.0002730571,0.00001981709,0.0002391593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002078743,"threshold_uncertainty_score":0.01089388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04610145329935515,"score_gpt":0.2981209955227079,"score_spread":0.2520195422233527,"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."}}