{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001117714,0.00007404764,0.00008597548,0.00002212197,0.00008621077,0.00003318634,0.00006766785,0.00003676395,0.00005512967],"category_scores_gemma":[0.00002020346,0.00005606299,0.00001798585,0.00004069016,0.00005190659,0.000004216176,0.00003814051,0.0000445761,0.0000202972],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001186646,"about_ca_system_score_gemma":0.00001096959,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003137986,"about_ca_topic_score_gemma":0.0002484417,"domain_scores_codex":[0.9994349,0.00007202225,0.0001517739,0.000163169,0.00008623691,0.00009184902],"domain_scores_gemma":[0.9997231,0.000009207889,0.00005158708,0.000135547,0.00006082049,0.00001968805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009448674,0.003208579,0.6702863,0.0003142979,0.000640638,0.0000304488,0.02285496,0.006386622,0.1698949,0.002403838,0.01465399,0.1083805],"study_design_scores_gemma":[0.003460168,0.0003277884,0.9925104,0.000008222018,0.00001660517,0.000003386376,0.0004107088,0.001992365,0.0001802086,0.0008204399,0.000140984,0.0001287617],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987962,0.0001253068,0.00009450856,0.00003897246,0.00003526283,0.0004551301,0.000002040876,0.000006503971,0.0004460576],"genre_scores_gemma":[0.9994756,0.000006436037,0.00007623326,0.0001350747,0.00002764931,0.00004696551,0.0001014944,0.00001013094,0.0001204275],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3222241,"threshold_uncertainty_score":0.2286182,"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."}}