{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003262003,0.0001812756,0.0001601709,0.0007795911,0.0002346818,0.0002647871,0.0001774085,0.0002039963,0.002094558],"category_scores_gemma":[0.001250261,0.0001328304,0.0001490319,0.0003975355,0.000238152,0.0001483556,0.0003536194,0.0001904783,0.0001760753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001304517,"about_ca_system_score_gemma":0.00008977611,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00131171,"about_ca_topic_score_gemma":0.001156946,"domain_scores_codex":[0.9997322,0.00006619658,0.00002494484,0.00009110505,0.00005290986,0.00003261911],"domain_scores_gemma":[0.9991446,0.0002511664,0.0004087145,0.00005437157,0.0000647611,0.00007642638],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000505798,0.00004020369,0.942782,0.00002041154,0.00009343786,0.00112439,0.0006841415,0.0002536859,0.04530322,0.0001250446,0.00008630266,0.00898145],"study_design_scores_gemma":[0.000003387044,0.00009451702,0.9957677,0.000004915733,0.000021216,0.002035951,0.00009795539,0.0002549247,0.001549163,0.0000508437,0.0001143368,0.000005143486],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996443,0.00006224465,0.0001275527,0.000003539793,4.724565e-7,0.000001184837,0.00005549231,0.000003105505,0.000102084],"genre_scores_gemma":[0.9997402,0.00001974411,0.00009487489,0.000001964627,8.020482e-7,0.000001305481,0.00006498884,0.000002163169,0.00007401573],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002094558,"threshold_uncertainty_score":0.007007003,"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."}}