{"id":"W4302010778","doi":"10.21203/rs.3.rs-2133140/v1","title":"SMARCA4-Associated Schwannomatosis","year":2022,"lang":"en","type":"preprint","venue":"Research Square","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Canadian Institutes of Health Research; Instituto de Salud Carlos III; “la Caixa” Foundation; Fundación Mutua Madrileña","keywords":"SMARCB1; SMARCA4; Proband; Atypical teratoid rhabdoid tumor; Germline; Cancer research; Chromosome 22; Medicine; Biology; Pathology; Chromosome; Genetics; Mutation; Medulloblastoma; Epigenetics; Gene","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":[0.0002243323,0.0007773453,0.0004435627,0.0008915764,0.0003499965,0.0007434715,0.0004848768,0.001211124,0.009890973],"category_scores_gemma":[0.000581198,0.0002641233,0.0003109388,0.0007985945,0.0005447434,0.0003005734,0.000500536,0.0006187703,0.00230524],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007071961,"about_ca_system_score_gemma":0.0002325708,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006204409,"about_ca_topic_score_gemma":0.0004236951,"domain_scores_codex":[0.9997576,0.00005408527,0.0000185066,0.00005074266,0.00007750181,0.00004161449],"domain_scores_gemma":[0.9997138,0.00008453961,0.00007447635,0.00004848973,0.00002430977,0.00005428759],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.006945077,0.000262258,0.02890909,0.001426316,0.0008143584,0.1757858,0.0003503116,0.005770072,0.6522549,0.03375585,0.03148191,0.06224418],"study_design_scores_gemma":[0.0008350096,0.0003808286,0.09694899,0.0001498477,0.000706902,0.2723007,0.0003139262,0.01792231,0.4316933,0.05041121,0.1282594,0.00007772916],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9289631,0.01003284,0.008800681,0.003389973,0.0006034512,0.00005748961,0.004451497,0.0009935063,0.04270755],"genre_scores_gemma":[0.9806804,0.001494855,0.001842593,0.0001294306,0.0001961541,0.00001581037,0.001480331,0.00007499928,0.01408533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009890973,"threshold_uncertainty_score":0.03308862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05628664406004169,"score_gpt":0.3970673240669534,"score_spread":0.3407806800069118,"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."}}