{"id":"W2136120490","doi":"10.1093/hmg/ddt116","title":"Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error","year":2013,"lang":"en","type":"review","venue":"Human Molecular Genetics","topic":"Ophthalmology and Visual Impairment Studies","field":"Medicine","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Center for Advancing Translational Sciences; National Center for Research Resources; Wellcome Trust; National Eye Institute; National Human Genome Research Institute; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Biology; International HapMap Project; Genome-wide association study; Genetics; Single-nucleotide polymorphism; Genetic association; Locus (genetics); Imputation (statistics); Genotyping; RNA splicing; 1000 Genomes Project; Minor allele frequency; Computational biology; Gene; Genotype; 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":[0.002357918,0.00100711,0.003387978,0.002801404,0.0001672316,0.0008800912,0.0009255934,0.0007216557,0.001813003],"category_scores_gemma":[0.003438442,0.00032431,0.002348679,0.004513187,0.000266096,0.0004764927,0.0006260927,0.0007430685,0.0003397111],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004741114,"about_ca_system_score_gemma":0.001017159,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00181126,"about_ca_topic_score_gemma":0.004050191,"domain_scores_codex":[0.9990884,0.000272675,0.0001791325,0.0002222175,0.0001952729,0.00004219978],"domain_scores_gemma":[0.9978119,0.001437806,0.0004005095,0.00008423855,0.0001982982,0.000067401],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.001752868,0.00007024063,0.03743596,0.06563351,0.03863791,0.0009769263,0.0001393668,0.001047799,0.002054314,0.0009894134,0.01065396,0.8406078],"study_design_scores_gemma":[0.001256238,0.001672879,0.3862918,0.04127903,0.3080484,0.0130671,0.0005971318,0.001608681,0.00423001,0.007808126,0.2338772,0.0002634498],"study_design_candidate":"meta_analysis","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00159631,0.9977464,0.0002439503,0.0001346839,0.00002911807,0.000004504781,0.00008315813,0.000009536058,0.0001522487],"genre_scores_gemma":[0.02685641,0.9716754,0.0007866014,0.0001784139,0.00008773164,0.00001619947,0.0002565715,0.000006365887,0.0001362741],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003387978,"threshold_uncertainty_score":0.01247001,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2165398101026498,"score_gpt":0.4426701694190523,"score_spread":0.2261303593164025,"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."}}