{"id":"W3102232843","doi":"10.1002/mds.28341","title":"Expanded <scp>CAG</scp> Repeats in <scp><i>ATXN1</i></scp>, <scp><i>ATXN2</i></scp>, <scp><i>ATXN3</i></scp>, and <scp><i>HTT</i></scp> in the 1000 Genomes Project","year":2020,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Human Genome Research Institute; Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Spinocerebellar ataxia; Genetics; Biology; Genome; In silico; Repeated sequence; Trinucleotide repeat expansion; Allele; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008427339,0.0005886402,0.0004313407,0.001397056,0.0003573755,0.0005863589,0.0003321065,0.0004589724,0.004185186],"category_scores_gemma":[0.002266088,0.0001801391,0.001154771,0.001384002,0.0002489283,0.0002574958,0.0003851374,0.0003896546,0.000718024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004374941,"about_ca_system_score_gemma":0.0005275104,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006000048,"about_ca_topic_score_gemma":0.009884162,"domain_scores_codex":[0.9994855,0.0001188352,0.00005970807,0.0002227799,0.00007179914,0.00004132644],"domain_scores_gemma":[0.9990747,0.000467465,0.0002389756,0.00005649602,0.00007811029,0.00008414238],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002554346,0.0002050776,0.8275793,0.0007306805,0.00276157,0.00207142,0.0003790967,0.008161198,0.1147083,0.0005597676,0.003569919,0.03671926],"study_design_scores_gemma":[0.00008960026,0.0002453628,0.9628323,0.0001493256,0.0011211,0.002587768,0.0001614903,0.01183385,0.01652486,0.0008063182,0.003613287,0.00003469718],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9829524,0.000742186,0.004143041,0.0001135663,0.00002486221,0.00005769249,0.01080912,0.000109669,0.001047621],"genre_scores_gemma":[0.9734542,0.0002606559,0.006927259,0.00009387175,0.00001046385,0.00005634844,0.01864072,0.00004858391,0.0005078798],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006000048,"threshold_uncertainty_score":0.01400089,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02837521692035124,"score_gpt":0.2563542085006773,"score_spread":0.2279789915803261,"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."}}