{"id":"W2972307862","doi":"10.1038/s41598-019-49409-1","title":"Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with α1-Antitrypsin Deficiency","year":2019,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Asthma and respiratory diseases","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Christie (Canada)","funders":"Università degli Studi di Padova; Fondazione IRCCS Policlinico San Matteo; Alpha Foundation for the Improvement of Mine Safety and Health; CHEST Foundation; Alpha-1 Foundation","keywords":"Exome sequencing; Immune system; Gene; Biology; Genetics; Exome; Immunology; Immune dysregulation; Disease; Major histocompatibility complex; Genotype; Candidate gene; Phenotype; Medicine; Internal medicine","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":[0.0001541926,0.0002696686,0.0002399052,0.0006240124,0.0002485309,0.0002814361,0.0001133307,0.0003664727,0.001285967],"category_scores_gemma":[0.0004037326,0.00008328189,0.000272205,0.0005338987,0.0001392164,0.0001107894,0.0002543974,0.0002316603,0.0001438245],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001032681,"about_ca_system_score_gemma":0.0000737326,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007546818,"about_ca_topic_score_gemma":0.001107551,"domain_scores_codex":[0.9998958,0.00001747642,0.00001099354,0.00004130277,0.0000190394,0.00001534678],"domain_scores_gemma":[0.9998772,0.00005247854,0.00003300875,0.00001026372,0.000009164722,0.00001787764],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002567573,0.0001723717,0.5939446,0.0001830954,0.0004721488,0.02203195,0.001015273,0.0008564852,0.3408917,0.0004795006,0.001343939,0.03604139],"study_design_scores_gemma":[0.00004344309,0.0001512011,0.9760957,0.00002772533,0.0002918878,0.009635982,0.0003381403,0.00122101,0.009834387,0.0004322565,0.001917548,0.00001087756],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986773,0.000222765,0.0003476705,0.00004801284,0.000003440978,0.000004076007,0.00048128,0.000007745768,0.0002076439],"genre_scores_gemma":[0.9973831,0.0002506034,0.0007444865,0.00006697101,0.000007276109,0.000007803595,0.0009468547,0.000007102389,0.0005858821],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001285967,"threshold_uncertainty_score":0.004302025,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01676239568142315,"score_gpt":0.2696976313121263,"score_spread":0.2529352356307031,"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."}}