{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004881505,0.0005476548,0.001246108,0.0001748695,0.00007930215,0.00001666789,0.0006682749,0.0009039235,0.00009823467],"category_scores_gemma":[0.002148378,0.0005058112,0.0003650687,0.000247786,0.0003766704,0.000002649844,0.0003826998,0.0003536812,0.0001739009],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008497222,"about_ca_system_score_gemma":0.0003536592,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001615605,"about_ca_topic_score_gemma":0.00003326038,"domain_scores_codex":[0.9970573,0.0003191612,0.000838551,0.000996368,0.0001700617,0.0006185969],"domain_scores_gemma":[0.9981104,0.0005119322,0.0003150396,0.0008955947,0.00006347663,0.0001035398],"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":[0.00001160789,0.0002812451,0.0001533121,0.005904318,0.00007726635,0.001732392,0.0001007173,0.00002157167,0.0001102013,0.0000316219,0.05286658,0.9387091],"study_design_scores_gemma":[0.0002991177,0.0005052259,0.00005632902,0.00822202,0.0002543832,0.003817894,0.00004650502,0.00001594101,0.00003571329,0.0002076195,0.9857981,0.0007411268],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.005024146,0.991756,0.0001311574,0.00001768902,0.0009944432,0.0004869248,0.0001725474,0.00002936964,0.001387742],"genre_scores_gemma":[0.001017849,0.9954071,0.001112894,0.0001436377,0.0006222458,0.0002293338,0.001090756,0.00008746271,0.0002887067],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.937968,"threshold_uncertainty_score":0.9997393,"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."}}