{"id":"W4405436745","doi":"10.1016/j.exer.2024.110211","title":"Genetic variants in PIKFYVE: A review of ocular phenotypes","year":2024,"lang":"en","type":"review","venue":"Experimental Eye Research","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research; Foundation Fighting Blindness","keywords":"Phenotype; Genetics; Biology; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001229868,0.0003533539,0.001007798,0.0002645311,0.00004428535,0.00003035772,0.0006177722,0.0003518944,0.000308999],"category_scores_gemma":[0.0001568208,0.0002888994,0.0004211263,0.0005923758,0.0001815946,0.00000276252,0.0007202253,0.0005725584,0.0003092481],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009767888,"about_ca_system_score_gemma":0.0006076528,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004379368,"about_ca_topic_score_gemma":0.00000253597,"domain_scores_codex":[0.9967304,0.0007948853,0.0006715638,0.0007314209,0.0005586245,0.0005130497],"domain_scores_gemma":[0.9989373,0.0000287067,0.0001034747,0.0007200247,0.00008771991,0.000122747],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004704814,0.0006759156,0.000007064495,0.4074728,0.000471821,0.0002900617,0.0001577349,1.638756e-7,0.02989334,0.0004307959,0.01288117,0.5476722],"study_design_scores_gemma":[0.0001301952,0.0003000387,0.000001400746,0.07479395,0.00006256647,0.00002595257,0.00002599934,0.000001209338,0.01221376,0.00002389056,0.9121462,0.0002748794],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001227626,0.9939267,0.000002501255,0.00001619358,0.0001316983,0.001483799,0.00007215647,0.000008491181,0.004235698],"genre_scores_gemma":[0.0002908674,0.9972436,0.0002433348,0.00003501156,0.0002818224,0.0006505703,0.0001860107,0.00008873147,0.0009800673],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.899265,"threshold_uncertainty_score":0.9999563,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09357653495717295,"score_gpt":0.4589614703130117,"score_spread":0.3653849353558388,"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."}}