{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008391488,0.0005403179,0.0005289627,0.0003061459,0.00106668,0.001141429,0.0006200608,0.01292465,0.003702326],"category_scores_gemma":[0.004860154,0.0002342499,0.0004099935,0.000239181,0.001213861,0.001307676,0.0004091675,0.01075414,0.002323905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009132974,"about_ca_system_score_gemma":0.0007066177,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001638199,"about_ca_topic_score_gemma":0.002623612,"domain_scores_codex":[0.9995267,0.0001360441,0.0000544452,0.00008232709,0.0001253588,0.00007512405],"domain_scores_gemma":[0.9987856,0.0006518553,0.00004838782,0.00005568092,0.0002269225,0.0002316972],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000249269,0.00008457972,0.002479334,0.00008621797,0.00002304769,0.02337857,0.0001527372,0.0001554277,0.001570705,0.005418703,0.9341629,0.0322385],"study_design_scores_gemma":[0.0004058083,0.0003680139,0.008115416,0.0003603827,0.00007370682,0.05866136,0.0005382153,0.002038721,0.001785455,0.03007601,0.897448,0.0001289722],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.003171576,0.002209498,0.0003972681,0.9548622,0.03293388,0.00001769298,0.00007227294,0.00006418789,0.006271428],"genre_scores_gemma":[0.05545981,0.006658563,0.001517405,0.7731411,0.1215841,0.00005912419,0.0001277432,0.00005196714,0.04140025],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.01292465,"threshold_uncertainty_score":0.01238549,"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."}}