{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006660475,0.00084729,0.0004064018,0.002539101,0.0004109193,0.0006481489,0.000531707,0.0005919021,0.002383308],"category_scores_gemma":[0.001474889,0.0001728436,0.0003760502,0.00144436,0.0008254589,0.0003949697,0.001311642,0.0004413757,0.0002144432],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003961105,"about_ca_system_score_gemma":0.0008638856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004158925,"about_ca_topic_score_gemma":0.004218617,"domain_scores_codex":[0.9992958,0.0001267147,0.00007890467,0.0002227234,0.0001877001,0.00008816785],"domain_scores_gemma":[0.9991567,0.0003116517,0.0002881796,0.00006858509,0.00009515488,0.00007981939],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004328769,0.0000941261,0.8817439,0.0002837972,0.0001955137,0.01094264,0.0007360036,0.001226666,0.04878125,0.0009994853,0.0004794312,0.0540844],"study_design_scores_gemma":[0.00004541458,0.0001756068,0.9323279,0.0001624499,0.0002807851,0.04836019,0.0006568618,0.001836401,0.009458139,0.00116254,0.005506292,0.00002748863],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952303,0.001990158,0.001226366,0.0001626285,0.000008740065,0.00001693022,0.0003435349,0.00002142334,0.0009999332],"genre_scores_gemma":[0.9948955,0.001441319,0.002845051,0.00008950211,0.00002827475,0.00001334057,0.0004681999,0.00001375276,0.0002050857],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004158925,"threshold_uncertainty_score":0.008269429,"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."}}