{"id":"W3135637915","doi":"10.1212/nxg.0000000000000572","title":"Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1","year":2021,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Deutsche Gesellschaft für Muskelkranke; University of Aberdeen; Sarepta Therapeutics; GW Pharmaceuticals; Biogen; PTC Therapeutics; Sanofi; Alexion Pharmaceuticals; European Commission; Pfizer","keywords":"Myotonic dystrophy; Medicine; Genetics; Trinucleotide repeat expansion; Biology; Internal medicine; Gene; Allele","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008252567,0.0002464597,0.000388268,0.0002376051,0.0002272428,0.000258837,0.0002068074,0.000428768,0.00153267],"category_scores_gemma":[0.002428237,0.0000785677,0.0002793174,0.0003567694,0.0001288608,0.0001589178,0.0001838114,0.0003677147,0.00008614289],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002227544,"about_ca_system_score_gemma":0.0001170668,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001072851,"about_ca_topic_score_gemma":0.001690056,"domain_scores_codex":[0.9995378,0.0001830825,0.00005353191,0.0001016825,0.0000750449,0.00004880816],"domain_scores_gemma":[0.9981295,0.000421132,0.001152862,0.00004842942,0.00007906945,0.0001689484],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01053051,0.0004657716,0.9719288,0.0001863978,0.0005841357,0.0001290478,0.00007459061,0.0001991864,0.001395833,0.00002137941,0.0002387346,0.01424552],"study_design_scores_gemma":[0.0001728228,0.001211269,0.9979235,0.00002124093,0.0001224645,0.0001788827,0.00002436098,0.0001580121,0.00008029045,0.0000163015,0.00008819569,0.00000270286],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983333,0.001058201,0.00005446723,0.00005274158,0.000005792328,0.00001402573,0.0001736045,0.000002866426,0.0003049913],"genre_scores_gemma":[0.9994773,0.0001250339,0.00006682571,0.00002480019,0.00001330046,0.00001297964,0.0001873844,7.254297e-7,0.00009148166],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00153267,"threshold_uncertainty_score":0.005127311,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08087133640048896,"score_gpt":0.3642204814991383,"score_spread":0.2833491450986494,"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."}}