{"id":"W4221101236","doi":"10.1007/s00439-021-02397-7","title":"Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity","year":2021,"lang":"en","type":"article","venue":"Human Genetics","topic":"SARS-CoV-2 and COVID-19 Research","field":"Medicine","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital","funders":"Center for Sepsis Control and Care; Wellcome Trust; Biotechnology and Biological Sciences Research Council; Rheinische Friedrich-Wilhelms-Universität Bonn; UK Research and Innovation; Science for Life Laboratory; Vetenskapsrådet; Knut och Alice Wallenbergs Stiftelse; Ministero dell’Istruzione, dell’Università e della Ricerca; European Commission; King's College London; Medical Research Council; Department of Health and Social Care; University of Edinburgh; Health Research Board; National Institute for Health and Care Research; Canadian Institutes of Health Research; Eli Lilly and Company; Compute Canada; LifeArc; Deutsche Forschungsgemeinschaft; GlaxoSmithKline; Biogen; Università degli Studi di Siena","keywords":"Biology; Human genetics; Genome-wide association study; Linkage disequilibrium; Exome; Computational biology; Exome sequencing; Logistic regression; Genetics; Gene; Single-nucleotide polymorphism; Genotype; Mutation; Computer science; Machine learning","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":[0.00101398,0.0005189909,0.0003175702,0.0007452964,0.0002151657,0.0008254022,0.0001869326,0.0003021248,0.001808915],"category_scores_gemma":[0.002662871,0.0001504725,0.0008338843,0.0006310531,0.0003887505,0.0003193923,0.0004999228,0.0006432928,0.0001842831],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002182331,"about_ca_system_score_gemma":0.0002200658,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001246125,"about_ca_topic_score_gemma":0.002248016,"domain_scores_codex":[0.9995224,0.0001983894,0.0000467229,0.0001261966,0.00005551017,0.00005070871],"domain_scores_gemma":[0.9988262,0.0006217572,0.0003298973,0.0001004928,0.00005386166,0.00006776601],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006506372,0.00006291734,0.9414726,0.00006821386,0.0004859827,0.0003668514,0.00008215915,0.009026622,0.01504501,0.0009690712,0.0003176327,0.03145229],"study_design_scores_gemma":[0.00003652535,0.0002199316,0.8837489,0.00004935864,0.0004235138,0.001167062,0.0001623789,0.1045157,0.002793547,0.005939552,0.0009086695,0.00003496259],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9835892,0.0006341175,0.01400766,0.0001992191,0.00001102326,0.00001773553,0.0007243057,0.00004454692,0.0007722138],"genre_scores_gemma":[0.9970384,0.0001145107,0.002334602,0.00002292193,0.000009408943,0.000005384537,0.0003574469,0.000006776659,0.0001104973],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001808915,"threshold_uncertainty_score":0.006051421,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05963248937575948,"score_gpt":0.3640246115401372,"score_spread":0.3043921221643777,"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."}}