{"id":"W2020510381","doi":"10.1371/journal.pgen.1001180","title":"FSHD: A Repeat Contraction Disease Finally Ready to Expand (Our Understanding of Its Pathogenesis)","year":2010,"lang":"en","type":"letter","venue":"PLoS Genetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; National Institutes of Health; National Institute of Neurological Disorders and Stroke; Muscular Dystrophy Canada; University of Rochester","keywords":"Facioscapulohumeral muscular dystrophy; Trinucleotide repeat expansion; Genetics; Spinal and bulbar muscular atrophy; Biology; Pseudogene; Myotonic dystrophy; Fragile X syndrome; Muscular dystrophy; Gene; Allele; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.00009332644,0.0003584396,0.0003617132,0.0001052867,0.0001068377,0.00002140654,0.0003189235,0.00130904,0.00002660658],"category_scores_gemma":[0.0001756801,0.0003718603,0.0001702414,0.00007612032,0.00006136548,0.00000309713,0.0001354777,0.0007011688,0.00002123616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002600744,"about_ca_system_score_gemma":0.0002128722,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002718818,"about_ca_topic_score_gemma":0.00002604304,"domain_scores_codex":[0.9981935,0.0001162774,0.0003752804,0.0006575404,0.0002569834,0.0004003908],"domain_scores_gemma":[0.9986281,0.00002654732,0.0002561373,0.0007502614,0.0001763958,0.0001625707],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003715631,0.000109864,0.0003329791,0.0002991869,0.000165351,0.00003731899,0.00003168859,0.0001181983,0.8105053,0.00001618811,0.1878603,0.0001520574],"study_design_scores_gemma":[0.001678634,0.001475163,0.001700802,0.0002873316,0.0009452059,0.00001479388,0.0002331865,0.0002618694,0.4177653,0.0008029406,0.5729693,0.001865458],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8874041,0.004472869,0.001386147,0.1005019,0.001559768,0.001852079,0.001273977,0.00006310919,0.001485992],"genre_scores_gemma":[0.8521439,0.001392293,0.0003656165,0.1385231,0.003335624,0.0001338959,0.002641506,0.000153336,0.001310623],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3927399,"threshold_uncertainty_score":0.9999875,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04257781737453435,"score_gpt":0.2708517452523587,"score_spread":0.2282739278778243,"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."}}