{"id":"W2998661164","doi":"10.1038/s41431-019-0563-6","title":"TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy","year":2020,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; University of Ottawa","funders":"FP7 Health; National Institute on Disability and Rehabilitation Research; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Medical Research Council; U.S. Department of Education; Great Ormond Street Hospital for Children; Deutsche Forschungsgemeinschaft; U.S. Department of Defense; European Commission; University College London; National Institute for Health and Care Research; U.S. Department of Health and Human Services; National Institutes of Health; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Association Française contre les Myopathies","keywords":"Genetics; Duchenne muscular dystrophy; Exome sequencing; Biology; Locus (genetics); Candidate gene; Exome; Disease; Muscular dystrophy; Allele; Phenotype; Dystrophin; Single-nucleotide polymorphism; Bioinformatics; Medicine; Gene; Genotype; Internal medicine","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":[0.00024996,0.0004014206,0.0002567774,0.0007050632,0.0003424732,0.0003161957,0.0002164914,0.0003753078,0.002060463],"category_scores_gemma":[0.0009376862,0.0001120471,0.0002670168,0.0004987659,0.0001964623,0.0001381488,0.0003144685,0.0004278306,0.0002380464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000251773,"about_ca_system_score_gemma":0.0002009313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001610063,"about_ca_topic_score_gemma":0.002236825,"domain_scores_codex":[0.9998031,0.00003574166,0.00002224463,0.00008009193,0.0000424823,0.00001636607],"domain_scores_gemma":[0.9995921,0.0001438518,0.0001533624,0.00002574426,0.00002809617,0.00005677937],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002466547,0.0001373086,0.7195154,0.0001889049,0.0002854621,0.007814195,0.0004762461,0.001356054,0.2310239,0.0005525353,0.0007182798,0.03546516],"study_design_scores_gemma":[0.00004819576,0.0001580902,0.9787957,0.00004766139,0.0001370837,0.008126086,0.00009123238,0.00166549,0.00907275,0.0002850603,0.001554621,0.00001796734],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976678,0.000554873,0.0005977706,0.00005944882,0.00001050804,0.000008051787,0.0005633947,0.00001411674,0.0005240385],"genre_scores_gemma":[0.9980687,0.0001895373,0.0006158905,0.00003366861,0.0000107479,0.00000660207,0.0006176256,0.000009455739,0.0004477076],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002060463,"threshold_uncertainty_score":0.006892979,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0164013510245727,"score_gpt":0.2572153817118059,"score_spread":0.2408140306872332,"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."}}