{"id":"W3135667502","doi":"10.1038/s42003-021-01784-0","title":"A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus","year":2021,"lang":"en","type":"review","venue":"Communications Biology","topic":"Corneal surgery and disorders","field":"Medicine","cited_by":92,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital","funders":"National Eye Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Center for Advancing Translational Sciences; Medical Research Council; National Health and Medical Research Council; Moorfields Eye Charity; Moorfields Eye Hospital NHS Foundation Trust; University of Leeds; State Government of Victoria; King's College London; Northwest Regional Development Agency; Ögonfonden; Wayne and Gladys Valley Foundation; Grantová Agentura České Republiky; National Institutes of Health; Robert Wood Johnson Foundation; Sight Research UK; Rosetrees Trust; Diabetes UK; Erasmus Medisch Centrum; National Institute on Aging; National Institute for Health and Care Research; National Institute of Diabetes and Digestive and Kidney Diseases; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; UK Research and Innovation; Všeobecná Fakultní Nemocnice v Praze; Univerzita Karlova v Praze; Kaiser Permanente; British Heart Foundation; Wellcome Trust; Common Fund; Angior Family Foundation; Ellison Medical Foundation","keywords":"Keratoconus; Cornea; Genome-wide association study; Disease; Genetic association; Biology; Extracellular matrix; Genetics; Medicine; Pathology; Ophthalmology; Single-nucleotide polymorphism; Gene; Genotype","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007750794,0.0003049739,0.001551967,0.0003067144,0.0001517452,0.00002975665,0.0003917485,0.0005608226,0.00004709558],"category_scores_gemma":[0.001019253,0.0002687146,0.0002330117,0.0006821918,0.00007768891,0.00003686765,0.0005971712,0.000782203,0.00002892435],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004142812,"about_ca_system_score_gemma":0.0004067401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001731161,"about_ca_topic_score_gemma":0.001080851,"domain_scores_codex":[0.9967357,0.001636688,0.0008481759,0.0004411502,0.00007150089,0.0002667994],"domain_scores_gemma":[0.99541,0.002391332,0.0005125105,0.001430117,0.0001676999,0.00008828607],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00002746825,0.005125832,0.5078151,0.003303013,0.0006215709,0.000011856,0.001437057,2.596623e-7,0.0000972718,0.0001837541,0.0002065303,0.4811704],"study_design_scores_gemma":[0.002860117,0.000398661,0.2104279,0.001932587,0.002150699,0.00001941274,0.001648861,0.000114945,0.000002537073,0.000190896,0.7794185,0.0008349131],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.009859127,0.9868184,0.00004508301,0.0002943823,0.00006479723,0.002603979,0.00009173792,0.00005033087,0.0001722001],"genre_scores_gemma":[0.04176437,0.9539019,0.0003769729,0.00007737466,0.0000196344,0.00104805,0.002622136,0.00002782748,0.0001617762],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.7792119,"threshold_uncertainty_score":0.9999765,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1559542519198655,"score_gpt":0.4084134513460237,"score_spread":0.2524591994261582,"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."}}