{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006233482,0.0006453131,0.001351157,0.002190347,0.0001936078,0.000633714,0.0006569307,0.0007509044,0.003337221],"category_scores_gemma":[0.0008336116,0.000163537,0.0005674796,0.002657348,0.0003609185,0.0005609893,0.0005129441,0.0009397675,0.001359466],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004216697,"about_ca_system_score_gemma":0.001096758,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001357414,"about_ca_topic_score_gemma":0.002283095,"domain_scores_codex":[0.9998226,0.00003007378,0.00002705973,0.00003308009,0.00006478651,0.00002240149],"domain_scores_gemma":[0.9996208,0.0001748239,0.00005927139,0.00000998155,0.00009455917,0.00004058753],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0001486736,0.00003003479,0.0008118166,0.02004737,0.0003144516,0.0003187,0.00004402351,0.0002123976,0.000983755,0.001262883,0.02547911,0.9503467],"study_design_scores_gemma":[0.0000701132,0.0001796016,0.01147139,0.01059355,0.001167217,0.004178109,0.0001194576,0.0001433555,0.0006657678,0.001881398,0.9694882,0.00004172484],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001499553,0.999115,0.0000468461,0.0001682371,0.00007904688,0.000002150142,0.00001829738,0.000004366748,0.0004161143],"genre_scores_gemma":[0.001005501,0.9984698,0.00007554575,0.00009720797,0.00006335489,0.000002567231,0.00003987053,9.669307e-7,0.0002450738],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003337221,"threshold_uncertainty_score":0.01116419,"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."}}