{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008029198,0.0001004998,0.0001436661,0.00003436046,0.0002114768,0.00002291603,0.0006766284,0.00009170348,0.0006400695],"category_scores_gemma":[0.00009945266,0.00006880287,0.0001467152,0.00008445014,0.0001014359,0.000001989318,0.0003600019,0.0003250765,0.00000319132],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002126651,"about_ca_system_score_gemma":0.0003309638,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006347849,"about_ca_topic_score_gemma":0.000004859931,"domain_scores_codex":[0.9983187,0.0001383079,0.0003794752,0.0001090335,0.0008684334,0.00018599],"domain_scores_gemma":[0.9992975,0.00002138953,0.0002108674,0.0002328386,0.00008876273,0.0001486394],"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":[0.001538958,0.004623102,0.2408395,0.0003936353,0.005926966,0.004970163,0.01217115,0.03937156,0.1791541,0.009981153,0.4402352,0.06079458],"study_design_scores_gemma":[0.001150936,0.001308031,0.02321388,0.00001928379,0.0001053816,0.004084225,0.002652444,0.0002795326,0.006736975,0.0003005027,0.959902,0.0002468269],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.98581,0.003617064,0.0003840406,0.00918037,0.0006634044,0.00006272424,0.0000178941,0.000002400481,0.000262135],"genre_scores_gemma":[0.9963686,0.0006450106,0.0002985029,0.001184127,0.0004865869,0.000006798926,0.00001187047,0.00001478204,0.0009837627],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5196668,"threshold_uncertainty_score":0.7008313,"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."}}