{"id":"W4220994842","doi":"10.1101/2022.03.28.22273040","title":"Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"SARS-CoV-2 and COVID-19 Research","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre; Columbia College; McGill University; Jewish General Hospital; McGill University Health Centre","funders":"National Center for Advancing Translational Sciences; Medical Research Council; Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Perelman School of Medicine, University of Pennsylvania; National Institutes of Health; Fondation de l'Hôpital général juif; Axencia Galega de Innovación; Rheinische Friedrich-Wilhelms-Universität Bonn; Fondation Leenaards; Technische Universität München; King Abdulaziz City for Science and Technology; Jewish General Hospital; Knut och Alice Wallenbergs Stiftelse; National Science and Technology Development Agency; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Agencja Badań Medycznych; McGill University; Japan Agency for Medical Research and Development; Dipartimenti di Eccellenza; Deutsche Forschungsgemeinschaft; University of Pennsylvania; Public Health Agency; European Commission; Ministero dell’Istruzione, dell’Università e della Ricerca; British Heart Foundation; Thailand Research Fund; Public Health Agency of Canada; Bundesministerium für Bildung und Forschung; NHS Blood and Transplant; National Institute for Health and Care Research; Cancer Research UK; University of Pennsylvania Health System; Università degli Studi di Siena; Science for Life Laboratory; National Science Foundation; Compute Canada; Dr. Rolf M. Schwiete Stiftung; National Center for Global Health and Medicine; Japan Science and Technology Agency; Vetenskapsrådet; Georgia Clinical and Translational Science Alliance; Chulalongkorn University; Health Systems Research Institute; Qatar Foundation","keywords":"Exome sequencing; Exome; Genome-wide association study; Disease; Genetics; Biology; Genetic association; Population; Genotype; Medicine; Single-nucleotide polymorphism; Gene; Mutation; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.003288638,0.0005968238,0.000708866,0.000974126,0.0005596325,0.00133199,0.0005278089,0.0006319613,0.004833101],"category_scores_gemma":[0.00815491,0.0002206402,0.00208244,0.001938241,0.0003812923,0.000455115,0.001495489,0.001323031,0.0004947223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002729701,"about_ca_system_score_gemma":0.0004083992,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002792331,"about_ca_topic_score_gemma":0.003402426,"domain_scores_codex":[0.9981772,0.0006523722,0.0001923996,0.0006118506,0.0002218469,0.0001444047],"domain_scores_gemma":[0.9931946,0.003585854,0.001007549,0.0007175743,0.0009101803,0.0005842379],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001803004,0.00004163162,0.9620506,0.0003980722,0.007186261,0.0007828821,0.0002195789,0.0006300727,0.003402477,0.0007079245,0.004381145,0.01839632],"study_design_scores_gemma":[0.0001544066,0.0002069732,0.9815316,0.000250045,0.004351555,0.001192398,0.0002447391,0.001232968,0.0009894627,0.001261228,0.008535513,0.00004909996],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.961681,0.01317034,0.00667031,0.002435031,0.0002512824,0.00005452204,0.01267926,0.00006586211,0.002992248],"genre_scores_gemma":[0.985677,0.002561097,0.002226338,0.0007691132,0.0001850518,0.00006585664,0.007633242,0.0000540962,0.0008281314],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004833101,"threshold_uncertainty_score":0.01739222,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1168003080322296,"score_gpt":0.4182998370527876,"score_spread":0.301499529020558,"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."}}