{"id":"W2585469160","doi":"","title":"Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype","year":2016,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"Exome sequencing; Phenotype; Blindness; Genetics; Mutation; Exome; Biology; Medicine; Gene; Optometry","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":[0.0004143699,0.0001730872,0.000141658,0.0002344846,0.0002110278,0.00004405618,0.0003444076,0.00009022936,0.00003991205],"category_scores_gemma":[0.000928168,0.0001389651,0.00002993703,0.0007222847,0.001749822,0.00005919848,0.0002167484,0.00006919934,0.00008525539],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000971201,"about_ca_system_score_gemma":0.0008018534,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006853939,"about_ca_topic_score_gemma":0.00006247416,"domain_scores_codex":[0.9983835,0.00006975959,0.0002699663,0.0006037373,0.0002625351,0.0004104567],"domain_scores_gemma":[0.9992172,0.00006257468,0.00008789967,0.0001649228,0.0002614701,0.0002059351],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003813182,0.00005223991,0.02962242,0.000003629562,0.00001269114,0.00003713853,0.0007960454,0.00004035184,0.9691463,0.000112982,0.00004901183,0.00008908666],"study_design_scores_gemma":[0.0006644317,0.0004292872,0.2734025,0.00004406134,0.00000826415,0.00008299718,0.00110266,0.00003669814,0.7207922,0.002934556,0.0001422622,0.0003600626],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978682,0.00004146345,0.0001801587,0.0006483248,0.0002066092,0.0002516914,0.00002777875,0.00001098304,0.0007647675],"genre_scores_gemma":[0.9969119,0.000002608828,0.001453737,0.0002423014,0.0000358706,0.00007190659,0.00003471149,0.00001229697,0.001234598],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2483541,"threshold_uncertainty_score":0.644729,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04336475191548168,"score_gpt":0.3327444921025167,"score_spread":0.289379740187035,"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."}}