{"id":"W3116211797","doi":"10.1101/2020.12.18.20248226","title":"Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Genomics; McGill Genome Centre; Columbia College; McGill University; Jewish General Hospital","funders":"National Center for Advancing Translational Sciences; Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; King Abdulaziz City for Science and Technology; Jewish General Hospital; Public Health Agency; National Institutes of Health; Qatar Foundation; Public Health Agency of Canada; Cancer Research UK; Génome Québec; Georgia Clinical and Translational Science Alliance","keywords":"Biology; Candidate gene; Gene; Genetics; Population; Loss function; Coronavirus disease 2019 (COVID-19); Exome sequencing; Mutation; Disease; Medicine; Internal medicine; Phenotype","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":[0.0007902949,0.0002237397,0.0005112205,0.0001471922,0.0000851834,0.00001164469,0.000515613,0.0004875076,0.0003307418],"category_scores_gemma":[0.001293626,0.0001570062,0.0001001992,0.00031459,0.00009801652,0.00003449797,0.0004629556,0.0008091554,0.0001047357],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000164015,"about_ca_system_score_gemma":0.00045263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007393119,"about_ca_topic_score_gemma":0.0004096412,"domain_scores_codex":[0.9978926,0.0009908285,0.000469053,0.0003545119,0.00007275573,0.0002203138],"domain_scores_gemma":[0.9981424,0.0003594162,0.0005155763,0.0007181572,0.0002375755,0.0000268784],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.01730205,0.0003463531,0.2985404,0.0007597829,0.001860442,0.00002101878,0.007150467,0.0007941861,0.6595253,0.0007751047,0.01107307,0.001851807],"study_design_scores_gemma":[0.002967478,0.001760739,0.6856415,0.0005634077,0.0003797751,0.00009580686,0.001815904,0.00001312286,0.1638702,0.0006981612,0.1414536,0.0007402603],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917661,0.001304081,0.0003909294,0.00479467,0.0006719432,0.0006038629,0.0001137104,0.00004276116,0.0003119288],"genre_scores_gemma":[0.9974455,0.000169948,0.00004842643,0.0004902518,0.00002061169,0.00004020688,0.0001706774,0.00002138827,0.001592991],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.495655,"threshold_uncertainty_score":0.6402529,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02869886497979039,"score_gpt":0.2753439273237516,"score_spread":0.2466450623439612,"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."}}