{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001760885,0.0001538712,0.0002089319,0.00005956596,0.00004325447,0.00001026487,0.0003423767,0.00004030201,0.00004537646],"category_scores_gemma":[0.00005724503,0.0001384197,0.0001705437,0.00008708714,0.0001375262,0.000003831899,0.0001282907,0.0001585567,0.000006383024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004555422,"about_ca_system_score_gemma":0.00005993033,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":5.012571e-7,"about_ca_topic_score_gemma":4.904823e-7,"domain_scores_codex":[0.9986234,0.0002886975,0.0005156967,0.0002192798,0.0001705736,0.0001822977],"domain_scores_gemma":[0.9990888,0.000004321026,0.0003138207,0.0002466007,0.0001282115,0.0002183034],"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":[0.000799588,0.000258584,0.01199787,0.0001080178,0.00009175477,0.0001601577,0.0006006949,0.002541154,0.9762591,0.00001649573,0.001727296,0.005439327],"study_design_scores_gemma":[0.00931975,0.01264796,0.7805517,0.0003374273,0.0002927295,0.00003682628,0.0004247317,0.0008327542,0.1725445,0.0006573926,0.02129707,0.001057139],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951728,0.003586898,0.0005736882,0.0002197477,0.00005751207,0.0001013329,0.000008331489,0.000002662808,0.0002770158],"genre_scores_gemma":[0.9977288,0.0003708298,0.001123786,0.0004342037,0.0002811246,8.716205e-7,0.00001082948,0.00003238915,0.00001715131],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8037145,"threshold_uncertainty_score":0.5644593,"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."}}