{"id":"W2043603340","doi":"10.1038/nature10456","title":"Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy","year":2011,"lang":"en","type":"article","venue":"Nature","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":186,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","keywords":"Exon; RNA splicing; Retrotransposon; Untranslated region; Biology; Coding region; Duchenne muscular dystrophy; Genetics; Alternative splicing; Gene; Messenger RNA; Molecular biology; RNA; Genome","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009002262,0.0001312228,0.0001192058,0.00003468976,0.00004495091,0.000004854685,0.0001230366,0.001112458,0.00002199079],"category_scores_gemma":[0.00002656101,0.000124147,0.00006068558,0.00007741511,0.00006853881,0.000004182515,0.00003150129,0.0006330209,0.000002554489],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004614228,"about_ca_system_score_gemma":0.0000187614,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002940866,"about_ca_topic_score_gemma":0.00006889387,"domain_scores_codex":[0.999222,0.00005713722,0.0001135717,0.000337763,0.00006067188,0.0002087941],"domain_scores_gemma":[0.999677,0.000003395994,0.00002108496,0.0002253175,0.00002023727,0.00005298043],"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":[0.00027732,0.00006242212,0.002912491,0.000034239,0.00003121624,0.00001093444,0.000138652,0.000006868559,0.9935994,0.0001365161,0.001048707,0.001741296],"study_design_scores_gemma":[0.006130658,0.001728599,0.3421369,0.0001431175,0.00009374494,0.00004976959,0.0006140487,0.0002123908,0.6033583,0.002628875,0.04130892,0.001594767],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906107,0.008211378,0.0001008177,0.00008011037,0.00008186052,0.000122743,0.00002348954,0.000009783664,0.0007591108],"genre_scores_gemma":[0.9984242,0.0005137269,0.0002700198,0.0005228553,0.00004541432,0.00001342184,0.0001331898,0.0000143189,0.00006287549],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3902411,"threshold_uncertainty_score":0.8580298,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005591148783647504,"score_gpt":0.2098891911574931,"score_spread":0.2042980423738456,"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."}}