{"id":"W2126441577","doi":"10.1111/j.1399-0004.2011.01632.x","title":"Exploring the genetic origins of Treacher Collins syndrome","year":2011,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Treacher Collins syndrome; Genetics; Evolutionary biology; Biology; Medicine; Craniofacial","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001636884,0.0003880047,0.0005365922,0.00004024811,0.00008191323,0.00001932723,0.0006371628,0.0007839254,0.00006025885],"category_scores_gemma":[0.00008299486,0.0002871784,0.0005564111,0.0001111331,0.0004109968,0.000001727385,0.000216623,0.0006518583,0.00006334941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002193943,"about_ca_system_score_gemma":0.0001636409,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008104065,"about_ca_topic_score_gemma":0.00003550641,"domain_scores_codex":[0.9977244,0.0001905526,0.0008235731,0.0006277601,0.0002392491,0.0003944658],"domain_scores_gemma":[0.9982676,0.00007431546,0.0003219176,0.001132137,0.0001177666,0.0000862481],"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":[0.0002876852,0.001961453,0.1128095,0.0005054101,0.004360067,0.0009350724,0.0003598365,0.00008105578,0.001125003,0.000067757,0.8162535,0.06125367],"study_design_scores_gemma":[0.0006798388,0.001012553,0.05098224,0.00003081031,0.000395219,0.00002895781,0.00001757057,0.000006332912,0.0004978979,0.0001227415,0.9458535,0.0003722784],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861557,0.002628677,0.0001716933,0.007526655,0.001641837,0.0006260336,0.0002120244,0.00001670467,0.001020691],"genre_scores_gemma":[0.7956084,0.04857345,0.003208507,0.1372079,0.005746061,0.0003931939,0.001276294,0.0004478617,0.007538295],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1905473,"threshold_uncertainty_score":0.999958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1686630696846362,"score_gpt":0.3334863702367539,"score_spread":0.1648233005521176,"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."}}