{"id":"W2024699009","doi":"10.1002/humu.22394","title":"Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients","year":2013,"lang":"en","type":"article","venue":"Human Mutation","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":220,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Michael's Hospital","funders":"Santen","keywords":"SMARCB1; ARID1A; SMARCA4; Biology; Phenotype; Genetics; SWI/SNF; Genotype; Exome sequencing; Germline; Mutation; Gene; Epigenetics; Chromatin remodeling","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":[0.0003376075,0.001102621,0.0008849895,0.0013765,0.001047498,0.0007591314,0.0003250671,0.00110169,0.001969869],"category_scores_gemma":[0.002018676,0.0007220711,0.0005550105,0.00122827,0.0006202736,0.00039699,0.0006603153,0.0004618939,0.0005327198],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004944201,"about_ca_system_score_gemma":0.0003247042,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005315568,"about_ca_topic_score_gemma":0.002701454,"domain_scores_codex":[0.9994512,0.00006374538,0.00007278244,0.0002160326,0.0001047212,0.00009145467],"domain_scores_gemma":[0.9992862,0.0002078048,0.0001326913,0.00007160247,0.00006332572,0.0002382758],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008777604,0.0002466109,0.9526406,0.0000404108,0.0001254498,0.0255455,0.001823856,0.0003744693,0.01198018,0.0001042118,0.0002600405,0.005980953],"study_design_scores_gemma":[0.0001326673,0.0007266874,0.9633498,0.00001529681,0.00009523478,0.03276853,0.0004459003,0.0005491451,0.0008255146,0.0001354792,0.0009195323,0.00003622504],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992874,0.0001195138,0.0001193204,0.00002025688,0.000002615671,0.00001453416,0.0001718503,0.000007145381,0.0002574726],"genre_scores_gemma":[0.999154,0.00008224758,0.0001628129,0.00003379054,0.000007051307,0.00001395113,0.0003427556,0.00001134175,0.0001920291],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005315568,"threshold_uncertainty_score":0.01056927,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01408649600179193,"score_gpt":0.2602044668527999,"score_spread":0.2461179708510079,"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."}}