{"id":"W4400763368","doi":"10.1016/j.gim.2024.101216","title":"Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Department of Pathology, University of Utah; National Institute of Dental and Craniofacial Research; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Health and Medical Research Council; Fonds de Recherche du Québec - Santé; Manton Center for Orphan Disease Research, Boston Children's Hospital; School of Medicine; National Eye Institute; Howard Hughes Medical Institute; Astellas Pharma; Medical Research Council; Biogen; Chan Zuckerberg Initiative; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Silicon Valley Community Foundation; Broad Institute; Regeneron Pharmaceuticals; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Harvard Medical School; Massachusetts General Hospital; GlaxoSmithKline","keywords":"Phenocopy; Genetics; Phenotype; Biology; Proband; Mendelian inheritance; Gene; Genetic heterogeneity; Pedigree chart; Exome sequencing; Genome-wide association study; Candidate gene; Exome; Medical genetics; Single-nucleotide polymorphism; Genotype; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001629098,0.0001196308,0.0001252073,0.0000539524,0.00004119142,0.00001210743,0.00009565042,0.00007744343,0.00001339138],"category_scores_gemma":[0.00003536179,0.00008265081,0.00003245323,0.0001411322,0.0002188604,0.000002085789,0.00005933835,0.00006476825,0.000001152411],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000684902,"about_ca_system_score_gemma":0.00002659465,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003842465,"about_ca_topic_score_gemma":0.000197387,"domain_scores_codex":[0.999261,0.00003766207,0.0001975171,0.0002270746,0.00013926,0.0001375092],"domain_scores_gemma":[0.9996938,0.0000213806,0.00003225646,0.0001953194,0.00002695435,0.00003031143],"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":[0.0001435379,0.0002119029,0.1994347,0.0003120002,0.0007051713,0.00002661627,0.00302638,0.0007506079,0.5564283,0.001218406,0.001186047,0.2365564],"study_design_scores_gemma":[0.01718547,0.007740524,0.4685366,0.001062013,0.001940599,0.0001231244,0.007886795,0.02204637,0.2708495,0.03861572,0.1616582,0.002355149],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9433057,0.05360378,0.001703933,0.0005341828,0.000230967,0.0001843854,0.000006920719,0.000005307146,0.0004247686],"genre_scores_gemma":[0.9904663,0.008754062,0.0003861614,0.00007256491,0.0001609387,0.00001051011,0.00005331272,0.00001839086,0.00007775909],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2855788,"threshold_uncertainty_score":0.3370402,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008881962222819685,"score_gpt":0.2738979579209538,"score_spread":0.2650159956981341,"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."}}