{"id":"W4409558034","doi":"10.1038/s41525-025-00489-1","title":"Variants in CFAP410 cause a range of retinal and skeletal phenotypes","year":2025,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Allergy and Infectious Diseases; National Institute of General Medical Sciences; National Eye Institute; University of California, San Francisco; National Institutes of Health; Research to Prevent Blindness","keywords":"Phenotype; Retinal; Range (aeronautics); Biology; Medicine; Genetics; Ophthalmology; Gene; Engineering","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":[0.0002078086,0.00008781174,0.0001610466,0.00007709055,0.00001753196,0.000002068605,0.00008027795,0.00006707578,0.00004710487],"category_scores_gemma":[0.0001093616,0.0000741055,0.00001626945,0.00008516469,0.0001191366,0.000001281788,0.00005745839,0.00005013612,0.000001852246],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007312261,"about_ca_system_score_gemma":0.00006549402,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000726413,"about_ca_topic_score_gemma":0.00007006503,"domain_scores_codex":[0.9994043,0.00002791025,0.0002010345,0.0001855199,0.00005994214,0.0001213669],"domain_scores_gemma":[0.9997602,0.00001354232,0.00004427448,0.0001253176,0.00002532133,0.00003134087],"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":[0.0004712395,0.00005620257,0.2550105,0.0001726179,0.00009110189,0.00001365779,0.0005377706,0.000003745549,0.7280235,0.0009923831,0.004848976,0.009778218],"study_design_scores_gemma":[0.004277881,0.000366152,0.9720962,0.0001870114,0.00005742303,0.00001227831,0.000431848,0.00004968589,0.006961283,0.0009513227,0.01440499,0.0002039109],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856045,0.003283173,0.0002129963,0.0006158,0.0001000747,0.0001186405,0.000002027071,0.000002715284,0.0100601],"genre_scores_gemma":[0.9973915,0.0007408446,0.0002528102,0.0002797519,0.0000536254,0.000005560247,0.0000226516,0.000005586064,0.001247671],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7210622,"threshold_uncertainty_score":0.3021934,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007438773937304566,"score_gpt":0.2519850796746499,"score_spread":0.2445463057373454,"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."}}