{"id":"W1966999683","doi":"10.1002/ajmg.a.35397","title":"Two extraordinarily severe cases of Treacher Collins syndrome","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"","keywords":"Treacher Collins syndrome; Exon; Point mutation; Genetics; Etiology; Gene; Mutation; Polymorphism (computer science); Biology; Medicine; Pathology; Craniofacial; Genotype","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":[0.0001694616,0.0001426941,0.0003425645,0.00004579574,0.00003237749,0.00001265575,0.0002699353,0.00008007805,0.0003659072],"category_scores_gemma":[0.0001207723,0.0001136385,0.0001746738,0.0001266696,0.0003537919,0.000003518037,0.00006298735,0.0001191136,0.0000112876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001010977,"about_ca_system_score_gemma":0.0002120115,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002239309,"about_ca_topic_score_gemma":0.00003056309,"domain_scores_codex":[0.9986271,0.00007951438,0.000440873,0.0001471057,0.000495465,0.0002099625],"domain_scores_gemma":[0.9989763,0.00003258628,0.0003264549,0.0001881435,0.0001674521,0.000309089],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0006009738,0.003464978,0.2870969,0.00008117032,0.002484547,0.001389241,0.0010542,0.0003100671,0.05381309,0.00007682761,0.02088607,0.628742],"study_design_scores_gemma":[0.03774359,0.08790882,0.5460085,0.001162458,0.002138015,0.03407632,0.0235207,0.000863823,0.03647086,0.001573946,0.2245497,0.003983293],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974246,0.001347634,0.0003071833,0.0003582602,0.0001398552,0.00009847015,0.00001342861,0.000002070388,0.0003085221],"genre_scores_gemma":[0.9970945,0.001589352,0.000761499,0.0002214775,0.0001137394,0.000005832776,0.00000999337,0.00001831074,0.0001853165],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6247587,"threshold_uncertainty_score":0.4634041,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01111564050959434,"score_gpt":0.2832118348800496,"score_spread":0.2720961943704553,"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."}}