{"id":"W4313528573","doi":"10.1038/s42003-022-04323-7","title":"Rare variant analyses across multiethnic cohorts identify novel genes for refractive error","year":2023,"lang":"en","type":"article","venue":"Communications Biology","topic":"Ophthalmology and Visual Impairment Studies","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"FP7 Health; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Allergy and Infectious Diseases; National Human Genome Research Institute; European Regional Development Fund; National Institutes of Health; University of California, San Francisco; Ohio Lions Eye Research Foundation; National Health and Medical Research Council; Tartu Ülikool; Medical Research Council; Genome Institute of Singapore; Wellcome Trust; Cancer Research UK; Jyväskylän Yliopisto; Erasmus Medisch Centrum; Ministero dell’Istruzione, dell’Università e della Ricerca; National Eye Institute; Academy of Finland; Eesti Teadusagentuur; Murdoch University; ZonMw; National Institute of General Medical Sciences; Biomedical Research Council; Raine Medical Research Foundation; Curtin University of Technology; European Commission; Horizon 2020 Framework Programme; Hrvatska Zaklada za Znanost; National Institute for Health and Care Research; University of Cambridge; University of Pennsylvania; Agency for Science, Technology and Research; National Medical Research Council; King's College London; Research to Prevent Blindness; University of Notre Dame; Edith Cowan University; UK Research and Innovation; Nederlandse Organisatie voor Wetenschappelijk Onderzoek","keywords":"Refractive error; Minor allele frequency; Genome-wide association study; Heritability; Missing heritability problem; 1000 Genomes Project; Genetic association; Genetics; Biology; Allele; Allele frequency; Gene; Genetic variants; Single-nucleotide polymorphism; Genotype; Eye disease","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":[0.001797128,0.000453798,0.000651784,0.000858959,0.0009631113,0.001236735,0.0005177726,0.0005169163,0.002880909],"category_scores_gemma":[0.003500761,0.0002852888,0.00159785,0.001545561,0.0004101041,0.0003243165,0.001017847,0.0008440748,0.0002821914],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002068234,"about_ca_system_score_gemma":0.0003133612,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00637408,"about_ca_topic_score_gemma":0.01140025,"domain_scores_codex":[0.9987932,0.0002399014,0.0001306142,0.0005950834,0.0001195027,0.0001215484],"domain_scores_gemma":[0.997977,0.0007334332,0.0004912195,0.0004707013,0.0001217693,0.0002058836],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001711446,0.00006462511,0.9545475,0.0001127715,0.005030221,0.001329813,0.0004499287,0.0008072176,0.01682932,0.0005442296,0.001971352,0.01660168],"study_design_scores_gemma":[0.0001252221,0.00009587932,0.9913225,0.00003151787,0.001862242,0.0009304795,0.0002286843,0.001520846,0.001160452,0.0008792841,0.001818361,0.00002447133],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924877,0.001309089,0.002760917,0.0002507824,0.00005196998,0.00001652764,0.002427494,0.00007317034,0.0006224143],"genre_scores_gemma":[0.9954726,0.0004016608,0.001571652,0.0001350764,0.00003527673,0.00002763789,0.001896306,0.00005536154,0.0004043749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00637408,"threshold_uncertainty_score":0.01267397,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.3711875781073029,"score_gpt":0.5735080647888262,"score_spread":0.2023204866815234,"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."}}