{"id":"W3045470735","doi":"10.1002/ajmg.a.61732","title":"The variability of <scp><i>SMARCA4</i></scp>‐related <scp>Coffin–Siris</scp> syndrome: Do nonsense candidate variants add to milder phenotypes?","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"SMARCA4; SWI/SNF; Phenotype; Nonsense; SMARCB1; Genetics; Nonsense mutation; Biology; Medicine; Chromatin remodeling; Chromatin; Gene; Missense mutation","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":[0.001728469,0.0002958361,0.0006149943,0.000049581,0.0001290811,0.00004551351,0.0008947533,0.0002192613,0.00004935442],"category_scores_gemma":[0.004527174,0.0002206783,0.0002695067,0.000473737,0.0006016712,0.000004714115,0.0002866541,0.000539989,0.00001732356],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003127704,"about_ca_system_score_gemma":0.0009287778,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003532998,"about_ca_topic_score_gemma":0.00001499438,"domain_scores_codex":[0.9963019,0.000484205,0.001111288,0.000433784,0.001129343,0.0005395072],"domain_scores_gemma":[0.9967688,0.0005490868,0.0007485604,0.0005332705,0.0004067331,0.0009935035],"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":[0.0008381922,0.001834931,0.03237172,0.0004508236,0.006119878,0.0009104748,0.01106238,0.01817656,0.2656143,0.0002099169,0.4396246,0.2227862],"study_design_scores_gemma":[0.01064572,0.01892056,0.03619579,0.001140748,0.001551326,0.003751682,0.007103442,0.01391016,0.07129513,0.001228508,0.8333858,0.0008711166],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990499,0.002468658,0.004307836,0.001642651,0.0004756498,0.000191725,0.00004598338,0.0000102618,0.000358222],"genre_scores_gemma":[0.9933903,0.002430252,0.00167783,0.001898802,0.0004006837,0.000007281724,0.0000142193,0.0000478084,0.0001328239],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3937612,"threshold_uncertainty_score":0.8998998,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008730766403657017,"score_gpt":0.2578099854550246,"score_spread":0.2490792190513676,"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."}}