{"id":"W2790981342","doi":"10.1053/j.semdp.2018.01.002","title":"Hereditary SWI/SNF complex deficiency syndromes","year":2018,"lang":"en","type":"review","venue":"Seminars in Diagnostic Pathology","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"SMARCA4; SMARCB1; Epithelioid sarcoma; SWI/SNF; Biology; Germline; Pathology; Epigenetics; Chromatin remodeling; Cancer research; Medicine; Genetics; Sarcoma; Gene","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":[0.0003474921,0.000905834,0.0009657011,0.001963606,0.0002093718,0.0006825601,0.0008157522,0.0008741957,0.002725028],"category_scores_gemma":[0.0005978141,0.0001856439,0.0002507962,0.001722389,0.0006364347,0.0007195985,0.0007651523,0.001170859,0.001077793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005770857,"about_ca_system_score_gemma":0.0007264024,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005379156,"about_ca_topic_score_gemma":0.001176893,"domain_scores_codex":[0.9998686,0.00001707841,0.0000218135,0.0000260683,0.00004779958,0.00001854116],"domain_scores_gemma":[0.9998071,0.000100962,0.0000303248,0.000007780234,0.00002987598,0.00002400749],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006374107,0.00002703534,0.000431656,0.005869198,0.00006983591,0.002908399,0.00004467656,0.000296368,0.002437954,0.004398908,0.04174067,0.9417115],"study_design_scores_gemma":[0.00002123332,0.00002075218,0.0009056894,0.001878223,0.000123987,0.01450297,0.00005514926,0.00008112627,0.000976595,0.002435361,0.9789842,0.00001473655],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000309766,0.996251,0.0005764172,0.0005543337,0.0004906348,0.000003765703,0.0000318151,0.00002240734,0.001759771],"genre_scores_gemma":[0.003070171,0.9931825,0.0007977017,0.0005031261,0.0006804807,0.000009190328,0.00008458718,0.000006050067,0.001666118],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002725028,"threshold_uncertainty_score":0.009116173,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04171422629504947,"score_gpt":0.3358366803430193,"score_spread":0.2941224540479698,"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."}}