{"id":"W4382632577","doi":"10.1038/s41588-023-01428-5","title":"Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci","year":2023,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":142,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"National Eye Institute; National Health and Medical Research Council; Medical Research Council; Menzies Institute for Medical Research; Flinders University; Moorfields Eye Hospital NHS Foundation Trust; Université de Montréal; Lister Institute of Preventive Medicine; University of Tasmania; Canadian Institutes of Health Research; QIMR Berghofer Medical Research Institute; Duke-NUS Medical School; RIKEN; National Institutes of Health; School of Medicine, Case Western Reserve University; University of Wisconsin-Madison; National Institute for Health and Care Research; Case Western Reserve University; Massachusetts General Hospital; Research to Prevent Blindness; Glaucoma Research Foundation; BrightFocus Foundation; Government of Canada; U.S. Department of Health and Human Services","keywords":"Genome-wide association study; Glaucoma; Biology; Genetic association; Missing heritability problem; Heritability; Genetics; Open angle glaucoma; Intraocular pressure; Single-nucleotide polymorphism; Medicine; Ophthalmology; Genotype; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003763244,0.0007027294,0.0009647999,0.001497429,0.001045191,0.001094263,0.0006995674,0.0007411725,0.003596834],"category_scores_gemma":[0.006071868,0.0003923364,0.001658479,0.001944837,0.0005141572,0.0004454553,0.001460825,0.001214297,0.000418664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003294249,"about_ca_system_score_gemma":0.0004440492,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004050039,"about_ca_topic_score_gemma":0.01242471,"domain_scores_codex":[0.9972459,0.001077796,0.0001630079,0.0009541993,0.0003700563,0.0001890001],"domain_scores_gemma":[0.9950259,0.002791131,0.0006399753,0.001044736,0.0002297953,0.0002685043],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002351297,0.0005344971,0.7708439,0.0004111672,0.009321625,0.001950521,0.0008674887,0.006964916,0.09884769,0.002974974,0.004097533,0.1008345],"study_design_scores_gemma":[0.0003441799,0.0002956834,0.9687742,0.00005811788,0.002224416,0.001189227,0.0001591937,0.01056654,0.006325329,0.004293085,0.005696207,0.00007397901],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9451695,0.002256408,0.04414587,0.001090683,0.0001059788,0.000114163,0.004748967,0.0004719804,0.001896399],"genre_scores_gemma":[0.9739633,0.0005437936,0.02174213,0.0003610036,0.00006394879,0.0001041989,0.002422041,0.00009054357,0.000708896],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004050039,"threshold_uncertainty_score":0.01990217,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0127407984898442,"score_gpt":0.3141889231512906,"score_spread":0.3014481246614464,"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."}}