{"id":"W4394797607","doi":"10.1002/mds.29809","title":"Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism","year":2024,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"Canadian Institutes of Health Research; Peter und Traudl Engelhorn Stiftung; Deutsche Forschungsgemeinschaft; Massachusetts General Hospital","keywords":"Parkinsonism; Dystonia; Trinucleotide repeat expansion; Logistic regression; Biology; Internal medicine; Medicine; Genetics; Disease; Neuroscience","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":[0.0001495769,0.0001765298,0.0001680757,0.0001648909,0.00006260535,0.00004159151,0.0002463456,0.00003211301,0.0004711064],"category_scores_gemma":[0.0002077556,0.0001688114,0.0001236308,0.0004360946,0.0001681349,0.0001055904,0.0001594331,0.0001243986,0.00003442368],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001159016,"about_ca_system_score_gemma":0.00006888454,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001582898,"about_ca_topic_score_gemma":0.0003639144,"domain_scores_codex":[0.9981749,0.0001985463,0.0003885589,0.0006180057,0.0003434205,0.0002765785],"domain_scores_gemma":[0.9993492,0.0001184999,0.00004954423,0.0003893112,0.00001915709,0.00007432016],"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":[0.00004416144,0.0008909696,0.02850959,0.0001761022,0.00001597777,0.00001478116,0.001765919,0.001228636,0.9560599,0.005174726,0.001280818,0.004838441],"study_design_scores_gemma":[0.0005970213,0.0002277324,0.03577616,0.00008885541,0.0000275995,1.5331e-7,0.0005694351,0.005895144,0.9311324,0.02192982,0.003424213,0.0003314311],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954533,0.0002780306,0.0005518301,0.001423489,0.0005456615,0.0005276875,0.0001424922,0.00008135517,0.0009961799],"genre_scores_gemma":[0.9984751,0.0002514883,0.00005098696,0.0008620109,0.00001226171,0.0001151719,0.000009675708,0.0000209883,0.0002022979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02492745,"threshold_uncertainty_score":0.6883928,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03506971956859418,"score_gpt":0.2842713100451137,"score_spread":0.2492015904765196,"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."}}