{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003643672,0.0002304175,0.0004523454,0.0001275205,0.0003301731,0.0001190858,0.0002137472,0.0001730909,0.0001193796],"category_scores_gemma":[0.0006427465,0.0002381043,0.0000806809,0.0003572897,0.0001451951,0.00004448793,0.0001770836,0.0003413206,0.00006258829],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002157693,"about_ca_system_score_gemma":0.0006851957,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001410418,"about_ca_topic_score_gemma":0.0004053047,"domain_scores_codex":[0.9979204,0.0001420365,0.0003643112,0.0005273151,0.0005039591,0.0005419854],"domain_scores_gemma":[0.9984197,0.0001895967,0.00005973533,0.0006643603,0.0003206172,0.0003459622],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001663292,0.0003011174,0.4280773,0.0008466219,0.0001750044,0.003006703,0.001650677,0.000002903437,0.5542707,0.001246243,0.008334575,0.001921775],"study_design_scores_gemma":[0.009672915,0.0009519999,0.2625714,0.0004819847,0.0003001517,0.001173261,0.0011017,0.0002392525,0.4745548,0.005204372,0.2426053,0.001142817],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905214,0.001869897,0.001305118,0.001117776,0.0001392154,0.0005707825,0.0001432932,0.0000945711,0.004237918],"genre_scores_gemma":[0.9194324,0.00006265351,0.0007134271,0.07927782,0.0002237445,0.00002848048,0.00004871891,0.00003906767,0.0001736958],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2342707,"threshold_uncertainty_score":0.9709613,"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."}}