{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003299234,0.0004858991,0.0005287054,0.0006261981,0.0004909224,0.0003353915,0.0007129927,0.000954723,0.001597482],"category_scores_gemma":[0.0003286513,0.0003254222,0.0004703359,0.0002184807,0.0005538542,0.000209385,0.0004867444,0.0008103356,0.000486788],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002762511,"about_ca_system_score_gemma":0.0002264359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009258928,"about_ca_topic_score_gemma":0.0009037469,"domain_scores_codex":[0.9997019,0.0000687233,0.00008258468,0.00004453461,0.0000614869,0.00004069667],"domain_scores_gemma":[0.9997359,0.00009198699,0.00005741125,0.0000427272,0.00001300517,0.00005900336],"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":[0.0001773186,0.00006481621,0.0002752823,0.00004022174,0.00002036505,0.001337794,0.00005666109,0.0003925036,0.9948241,0.0007177406,0.00009385465,0.001999502],"study_design_scores_gemma":[0.000240396,0.000693842,0.006638804,0.00003108419,0.0001181208,0.009125183,0.0002360242,0.006976203,0.9688004,0.0006490928,0.006448132,0.00004271464],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945274,0.0007921745,0.002806263,0.0001819044,0.00007665128,0.00003716727,0.0002610764,0.0001136282,0.001203707],"genre_scores_gemma":[0.9968334,0.0002680046,0.001148316,0.00003493445,0.00001299376,0.00002738033,0.0001723234,0.00003521688,0.001467505],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001597482,"threshold_uncertainty_score":0.005344152,"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."}}