{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001507759,0.0002342886,0.0002550356,0.000170373,0.0003872088,0.0001098006,0.0007179984,0.0004434715,0.0007467698],"category_scores_gemma":[0.0005529277,0.0002494129,0.0002658436,0.0002520251,0.000118805,0.000001338781,0.003158316,0.001326879,0.00003722449],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002621356,"about_ca_system_score_gemma":0.0008881477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003731327,"about_ca_topic_score_gemma":0.00007693642,"domain_scores_codex":[0.9967274,0.0006148039,0.0002776442,0.000797586,0.0009626593,0.0006198941],"domain_scores_gemma":[0.9982468,0.00004377201,0.00009847493,0.001025701,0.000432789,0.0001523863],"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":[0.0009891686,0.002497682,0.04372029,0.005083495,0.002538044,0.0002419398,0.001539781,0.02991022,0.2409464,0.0007741009,0.6395239,0.03223496],"study_design_scores_gemma":[0.004204859,0.003082107,0.02208563,0.002162808,0.0001527237,0.00004189269,0.003878033,0.01224578,0.07657026,0.007997221,0.8636696,0.003909034],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.982297,0.005227627,0.00009150732,0.0004049288,0.0003749981,0.0005936436,0.0004659182,0.00006493621,0.01047943],"genre_scores_gemma":[0.990452,0.001194962,0.0001857119,0.00006309315,0.0003899128,0.0004524655,0.002330862,0.00007775937,0.00485325],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2241457,"threshold_uncertainty_score":0.9999958,"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."}}