{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow","sts","scholarly_communication","research_integrity"],"consensus_categories":["metaepi_narrow"],"category_scores_codex":[0.002578428,0.003827416,0.003050604,0.001933602,0.001677391,0.001919543,0.005206746,0.00103107,0.00004117975],"category_scores_gemma":[0.0205292,0.003597208,0.001176307,0.007184856,0.001947761,0.002020078,0.002480947,0.003042542,0.0004799135],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005651107,"about_ca_system_score_gemma":0.001310399,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008310878,"about_ca_topic_score_gemma":0.001792712,"domain_scores_codex":[0.974539,0.003740762,0.00387334,0.007033116,0.00472864,0.006085136],"domain_scores_gemma":[0.9776022,0.01436371,0.0019599,0.003713806,0.0005014001,0.001858917],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00007279385,0.007262729,0.1205199,0.001860034,0.0006320443,0.001560228,0.09219854,0.005792971,0.3780718,0.003264802,0.3814878,0.007276418],"study_design_scores_gemma":[0.01616926,0.00363026,0.05393079,0.0005612138,0.0007362975,0.00007269606,0.09476535,0.00359563,0.4518913,0.009035005,0.3647735,0.0008387049],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9447232,0.007498872,0.0003483547,0.002081882,0.001290855,0.008644828,0.0008594696,0.001013768,0.0335388],"genre_scores_gemma":[0.9104315,0.01153665,0.0007281948,0.05996078,0.001000704,0.003895344,0.0004476008,0.001042139,0.0109571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07381953,"threshold_uncertainty_score":0.9996223,"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."}}