{"id":"W2531771252","doi":"10.1016/j.ajhg.2016.08.023","title":"Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy","year":2016,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":false,"ca_institutions":"Stollery Children's Hospital","funders":"National Institute on Disability and Rehabilitation Research; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Medical Research Council; Università degli Studi di Padova; U.S. Department of Defense; U.S. Department of Energy; European Commission; Children's National Hospital; Newcastle University; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Fondazione Telethon; Ministero dell’Istruzione, dell’Università e della Ricerca; University College London; Great Ormond Street Hospital for Children; U.S. Department of Education; National Institutes of Health; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Duchenne Parent Project; Association Française contre les Myopathies","keywords":"Single-nucleotide polymorphism; Genetics; Biology; Duchenne muscular dystrophy; Minor allele frequency; Allele; Population; Gene; Medicine; Genotype","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":[0.0003427037,0.0005164195,0.0003217615,0.00107921,0.0004709485,0.0003658853,0.0002917445,0.0005568091,0.003058481],"category_scores_gemma":[0.0009170374,0.0002093772,0.000465921,0.0006897736,0.0002222368,0.0001610797,0.0002930553,0.0005717662,0.000239526],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002483352,"about_ca_system_score_gemma":0.0001660793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002761802,"about_ca_topic_score_gemma":0.002466589,"domain_scores_codex":[0.9996425,0.00008746969,0.00004545976,0.0001207642,0.00006422034,0.00003959293],"domain_scores_gemma":[0.9993604,0.0002870171,0.0001509697,0.00005212654,0.0000485983,0.0001008787],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004717375,0.0004861033,0.8252285,0.00007341777,0.0007527069,0.005020695,0.0006140709,0.0004869196,0.1465565,0.0008734171,0.0003636231,0.01482669],"study_design_scores_gemma":[0.0001105855,0.000370459,0.9820904,0.00002391763,0.0003776547,0.005889053,0.0001908276,0.0015475,0.00790171,0.0005179175,0.0009627216,0.00001730991],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990255,0.0001969117,0.0002702332,0.00003073007,0.000008290385,0.000003680812,0.0001512838,0.000008521772,0.0003049089],"genre_scores_gemma":[0.9991632,0.00006109694,0.0002224387,0.00001150257,0.000008275207,0.000002780757,0.00008612419,0.000004538952,0.0004400547],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003058481,"threshold_uncertainty_score":0.01023167,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01157704207621356,"score_gpt":0.2552140401271591,"score_spread":0.2436369980509455,"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."}}