{"id":"W4393344492","doi":"10.1101/2024.03.29.24304673","title":"The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C&gt;T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; Medical Research Council; Genentech; Colgate-Palmolive Company; National Institutes of Health; American Association for Dental, Oral, and Craniofacial Research; Deutsche Forschungsgemeinschaft","keywords":"Collagen VI; Muscular dystrophy; Phenotype; Genetics; Congenital muscular dystrophy; Genetic heterogeneity; Biology; Medicine; Bioinformatics; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003712437,0.0003845193,0.0003062463,0.0001075764,0.0002642822,0.0003626118,0.0001356581,0.0003264156,0.001822452],"category_scores_gemma":[0.0004569211,0.00009604167,0.0003305993,0.0001784555,0.0003647217,0.00008437753,0.0002009691,0.0004844049,0.0004856845],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001847051,"about_ca_system_score_gemma":0.0001952172,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004602715,"about_ca_topic_score_gemma":0.0007122834,"domain_scores_codex":[0.9997105,0.00006297029,0.00003706018,0.00008592617,0.0000543977,0.00004916972],"domain_scores_gemma":[0.9996201,0.0001192449,0.0001064709,0.00003190738,0.00002929117,0.00009300099],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.005890229,0.0008804582,0.2922041,0.0001941373,0.0005511483,0.03055359,0.0004861063,0.0008948097,0.6083773,0.0006711473,0.002034952,0.05726206],"study_design_scores_gemma":[0.0009957268,0.01271769,0.6803971,0.0001022787,0.0007058629,0.1565751,0.0005970641,0.002482259,0.1288713,0.0004974331,0.01598639,0.00007183848],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966516,0.0004551518,0.0008792349,0.0001326576,0.00002700454,0.0000521327,0.0002502544,0.00003067012,0.001521421],"genre_scores_gemma":[0.9983813,0.0001317966,0.0005404366,0.000147226,0.00001801053,0.0000130822,0.0002845612,0.00001557242,0.000468044],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001822452,"threshold_uncertainty_score":0.006096661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03858586415309589,"score_gpt":0.3377828216909156,"score_spread":0.2991969575378197,"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."}}