{"id":"W2075704285","doi":"10.1002/humu.21091","title":"Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":209,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre","funders":"","keywords":"Facioscapulohumeral muscular dystrophy; Subtelomere; Epigenetics; DNA methylation; Biology; Genetics; Chromosome; Haplotype; Muscular dystrophy; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001102844,0.00008306735,0.0001173277,0.000057339,0.0000547591,0.000007234056,0.00004362981,0.0001083256,0.00002583478],"category_scores_gemma":[0.00001361935,0.0000889123,0.00002244161,0.00003055357,0.00004197039,0.000005432499,0.000009252661,0.00006634899,0.000001770669],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000899068,"about_ca_system_score_gemma":0.00001388671,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001407269,"about_ca_topic_score_gemma":0.002225702,"domain_scores_codex":[0.9994406,0.00005881409,0.0001629637,0.0001586671,0.00006990015,0.0001090276],"domain_scores_gemma":[0.9997059,0.00001367815,0.0001054384,0.0001098109,0.00003649782,0.0000287215],"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":[0.0001729548,0.0001661413,0.008457639,0.00001558642,0.00001916785,0.000002850409,0.0002352928,0.0004272969,0.9790996,0.0005358085,0.00003518671,0.01083243],"study_design_scores_gemma":[0.001393641,0.0006520164,0.8913965,0.00001425628,0.00001705179,0.000009517787,0.0004501292,0.0001025823,0.1026606,0.003046569,0.0001203744,0.000136715],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983623,0.0004248264,0.0002403193,0.0001441631,0.00005332187,0.0001723253,0.000003908373,0.000005622752,0.0005932329],"genre_scores_gemma":[0.9994419,0.0001292573,0.00002035926,0.0001791672,0.00004793043,0.00001266935,0.0001144311,0.000005258933,0.00004903281],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8829389,"threshold_uncertainty_score":0.3625739,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01085930773313752,"score_gpt":0.2777779909053874,"score_spread":0.2669186831722498,"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."}}