{"id":"W2001050002","doi":"10.1002/ajmg.a.32359","title":"A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":false,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Leonard M. Miller School of Medicine; University of Toronto; University of Miami","keywords":"Cytogenetics; Miami; Library science; Research centre; Biology; Genetics; Computer science; Chromosome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004338925,0.00017437,0.0003721362,0.00009251284,0.00009360498,0.00001666176,0.0002608914,0.0001123182,0.00000901886],"category_scores_gemma":[0.0001755467,0.0001203601,0.00007650497,0.0001817951,0.0009524531,0.000004986592,0.00009339226,0.0002998937,2.979635e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001471972,"about_ca_system_score_gemma":0.0002159959,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001059338,"about_ca_topic_score_gemma":0.0001391314,"domain_scores_codex":[0.9983696,0.00008639751,0.0003879092,0.0002499439,0.000600058,0.0003060319],"domain_scores_gemma":[0.9989643,0.0001208246,0.0002454192,0.0002333896,0.0001427437,0.0002933207],"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":[0.009327345,0.002558053,0.2071793,0.001099056,0.004377143,0.003218767,0.006904223,0.0001907841,0.4603412,0.00007533545,0.04102565,0.2637031],"study_design_scores_gemma":[0.01950872,0.0546443,0.3118644,0.002409185,0.0008586648,0.2939762,0.002272261,0.001259029,0.1664056,0.00009906389,0.1446078,0.002094725],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877074,0.007285796,0.002843206,0.001789174,0.00003409644,0.0002753096,0.0000326892,0.000001820831,0.00003055284],"genre_scores_gemma":[0.984541,0.01380867,0.001095564,0.0003582517,0.00005736355,0.00001359435,0.00000664396,0.00002783319,0.00009108515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2939356,"threshold_uncertainty_score":0.4908141,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01180060406768281,"score_gpt":0.2632326771115706,"score_spread":0.2514320730438878,"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."}}