{"id":"W2119055733","doi":"10.1093/hmg/ddp027","title":"Glaucoma-associated WDR36 variants encode functional defects in a yeast model system","year":2009,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; University of Alberta","funders":"","keywords":"Biology; Genetics; Ribosome biogenesis; Phenotype; Locus (genetics); Ribosomal RNA; Gene; Ribosome; RNA","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000202389,0.0005671091,0.0004023738,0.0004062221,0.0002296961,0.0003430144,0.0004592886,0.0003860794,0.001536663],"category_scores_gemma":[0.0001862627,0.0002232882,0.0003902563,0.0003947135,0.0002264463,0.0001478497,0.0004253389,0.0005641475,0.0008679053],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003892948,"about_ca_system_score_gemma":0.0002461028,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001371475,"about_ca_topic_score_gemma":0.001379495,"domain_scores_codex":[0.9997693,0.00004056422,0.00004556779,0.00004619727,0.00007312778,0.00002527371],"domain_scores_gemma":[0.9998216,0.0000372599,0.0000480115,0.00004461443,0.00001783969,0.00003058259],"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":[0.0001754259,0.00005351908,0.0002322383,0.00004790384,0.00001291207,0.0001999249,0.00002480693,0.0003413319,0.9975482,0.0002867457,0.00009643555,0.0009806468],"study_design_scores_gemma":[0.00008384197,0.0008530235,0.003989572,0.00002174242,0.00005319992,0.001169312,0.00008038489,0.007376275,0.9740433,0.0003122975,0.01198663,0.00003041537],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9776948,0.0008664972,0.01394889,0.0001476376,0.00009377771,0.0001703855,0.004908914,0.000447615,0.001721284],"genre_scores_gemma":[0.9669147,0.0009781438,0.01920808,0.00005590071,0.00001086746,0.0002274585,0.007809539,0.0001837932,0.004611512],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001536663,"threshold_uncertainty_score":0.005140662,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01450229543544949,"score_gpt":0.2443045836212767,"score_spread":0.2298022881858272,"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."}}