{"id":"W2790464561","doi":"10.1002/ajmg.b.32618","title":"The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population","year":2018,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Haplotype; Population; Allele frequency; Genetics; Founder effect; Mutation rate; Biology; Allele; Epidemiology; Mutation; Huntington's disease; Disease; Demography; Medicine; Internal medicine; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00151235,0.0002847314,0.0004789427,0.0002364247,0.0001835361,0.00003138062,0.001314234,0.00007293135,0.0000270071],"category_scores_gemma":[0.004669222,0.0001863132,0.0001613379,0.001086086,0.001278695,0.00002817207,0.0002307131,0.0004864234,0.000009484343],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001719401,"about_ca_system_score_gemma":0.0002436346,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002323205,"about_ca_topic_score_gemma":0.00001600743,"domain_scores_codex":[0.9938846,0.002330537,0.001510937,0.0005006325,0.001231315,0.0005420387],"domain_scores_gemma":[0.9965454,0.001018366,0.000986072,0.0006191362,0.0002249666,0.0006061007],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004889152,0.0005848432,0.8894417,0.0000439839,0.0000661609,0.0001057725,0.001626594,0.001919825,0.02064553,0.003551783,0.003077664,0.07844728],"study_design_scores_gemma":[0.0008962997,0.00386056,0.9753731,0.00005035877,0.0001536157,0.00009006853,0.0001679889,0.002797469,0.006937104,0.006842833,0.00248376,0.0003468803],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856152,0.001757974,0.0004132167,0.01094644,0.0008958479,0.0003156237,0.00001261045,0.00000780421,0.00003526275],"genre_scores_gemma":[0.9843106,0.003995491,0.001486811,0.009832787,0.0003098116,0.000008664859,0.000001586248,0.00004185328,0.00001235888],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08593142,"threshold_uncertainty_score":0.7597632,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01972368126435515,"score_gpt":0.3233168959124009,"score_spread":0.3035932146480457,"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."}}