{"id":"W4288074900","doi":"10.1136/jmg-2022-108646","title":"Axenfeld-Rieger syndrome: more than meets the eye","year":2022,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":78,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Alberta Children's Hospital","funders":"National Center for Research Resources; National Eye Institute; National Institutes of Health; Children’s Hospital of Wisconsin Research Institute","keywords":"Ventriculomegaly; Hypotonia; Hypoplasia; Biology; Medicine; Phenotype; Genetics; Pathology; Anatomy; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004007635,0.0007458637,0.0008915051,0.0009893408,0.0008790931,0.0008423746,0.0004295965,0.001523935,0.004334382],"category_scores_gemma":[0.001703312,0.0002012688,0.0004917812,0.001355801,0.0007910373,0.001197677,0.001051012,0.0006332307,0.0004766442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004031211,"about_ca_system_score_gemma":0.0006871458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00293729,"about_ca_topic_score_gemma":0.003939215,"domain_scores_codex":[0.9994864,0.00005794886,0.00005848707,0.0001589756,0.0001324676,0.0001056124],"domain_scores_gemma":[0.9994993,0.0001451199,0.0001393809,0.00006396123,0.00004535319,0.0001067665],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001235693,0.0001584738,0.4190111,0.0007783825,0.0007371752,0.2956662,0.002849659,0.0008900205,0.07408544,0.01907991,0.01097817,0.1745297],"study_design_scores_gemma":[0.00008853674,0.000228963,0.143358,0.0003723077,0.0004105082,0.7892426,0.001380697,0.0007148411,0.005411797,0.0175042,0.04117644,0.0001112315],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9654866,0.01589536,0.003395425,0.004561146,0.0001798767,0.00002449752,0.0008890106,0.0002287084,0.009339396],"genre_scores_gemma":[0.9870537,0.004674032,0.003371325,0.001154533,0.0002133781,0.00001762871,0.0005588827,0.00005192792,0.002904676],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.004334382,"threshold_uncertainty_score":0.01449996,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008015653698554656,"score_gpt":0.2544086863842622,"score_spread":0.2463930326857075,"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."}}