{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004233431,0.0001398294,0.000382202,0.0001209249,0.0006364432,0.000008057874,0.0003648626,0.0001908645,0.00002464045],"category_scores_gemma":[0.0005878684,0.0001157409,0.0001355853,0.0003956083,0.0005209419,0.00005633336,0.000555733,0.0001966605,0.00009577296],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004184098,"about_ca_system_score_gemma":0.00005813228,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006761198,"about_ca_topic_score_gemma":0.00006915537,"domain_scores_codex":[0.9989538,0.0001298999,0.0002972792,0.0002571105,0.00004362248,0.0003183432],"domain_scores_gemma":[0.9974905,0.0009362575,0.0001330762,0.001142777,0.0002393401,0.00005808723],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009317253,0.003506983,0.7905163,0.0002784712,0.003543141,0.00003175813,0.005915704,0.00002864092,0.1712995,0.004559983,0.01049375,0.008894021],"study_design_scores_gemma":[0.001967988,0.0010316,0.9749571,0.00005927149,0.0003378128,0.0001351634,0.00301148,0.001730645,0.001161165,0.0009055265,0.01447837,0.0002238928],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9818763,0.003413129,0.001517639,0.01058368,0.0003892254,0.001097745,0.0003418433,0.0002527241,0.0005277326],"genre_scores_gemma":[0.9920558,0.001282056,0.003675125,0.0003102789,0.00006069601,0.0005087805,0.000957879,0.00001739624,0.001131989],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1844408,"threshold_uncertainty_score":0.4895071,"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."}}