{"id":"W3194009700","doi":"10.1002/ajmg.a.62465","title":"Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"Medical Research Council","keywords":"Phenotype; Missense mutation; Hypertelorism; Hypotonia; Genetics; Biology; Intellectual disability; Gene; Bioinformatics","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":[0.0007548272,0.0002420608,0.0006105776,0.0001438808,0.00006172551,0.00004758262,0.0004266832,0.0001991169,0.0000131469],"category_scores_gemma":[0.001026641,0.0001821525,0.0001417744,0.000629981,0.0007782705,0.00001257307,0.0002284731,0.0003738471,5.460412e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002255331,"about_ca_system_score_gemma":0.0009092026,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002461581,"about_ca_topic_score_gemma":0.00003049713,"domain_scores_codex":[0.9973049,0.0004488295,0.0008511613,0.0003095748,0.0006842028,0.0004013302],"domain_scores_gemma":[0.9976602,0.0002792319,0.0008557493,0.0003228482,0.000496182,0.0003858533],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000133839,0.001066083,0.1622247,0.0001869621,0.001680797,0.001316581,0.004744303,0.001106939,0.81647,0.00004475489,0.00153183,0.009493153],"study_design_scores_gemma":[0.009743186,0.006769486,0.867138,0.001363114,0.001043375,0.01134951,0.03147637,0.0005845703,0.05920013,0.0006216256,0.01032308,0.0003875757],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909244,0.008047324,0.0004310674,0.0001948949,0.0001425657,0.000145619,0.00005812749,0.000003403058,0.00005262978],"genre_scores_gemma":[0.9934073,0.004510356,0.001476096,0.0004090294,0.00007139553,0.000006425949,0.00005424776,0.00003506363,0.0000300611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7572699,"threshold_uncertainty_score":0.7427965,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01091622997584224,"score_gpt":0.2424360458945683,"score_spread":0.231519815918726,"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."}}