{"id":"W2126553084","doi":"10.1371/journal.pgen.1003585","title":"Causal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels","year":2013,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Protease and Inhibitor Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Institut universitaire de cardiologie et de pneumologie de Québec; University of British Columbia","funders":"National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; NIHR Cambridge Biomedical Research Centre; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; Biocenter, University of Oulu; Cambridge Institute for Medical Research, University of Cambridge; Engineering and Physical Sciences Research Council; Medical Research Council; Directorate for Biological Sciences; National Institutes of Health; Abbott Diagnostics; Ministry of Cultural Affairs; National Institute of Allergy and Infectious Diseases; Grifols; National Institute for Health and Care Research; Centre for Cognitive Ageing and Cognitive Epidemiology; Freiwillige Akademische Gesellschaft; Fondazione Cariplo; University of Edinburgh; Academy of Finland; Economic and Social Research Council; Siemens; Bundesamt für Gesundheit; Bundesministerium für Bildung und Forschung; Universität Greifswald; Lungenliga Schweiz; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Oulun Yliopisto; University of British Columbia; European Commission; National Science Foundation; Rijksuniversiteit Groningen; Royal Society; Scottish Government; Münchner Zentrum für Gesundheitswissenschaften; Healthway; Hjerteforeningen; Biotechnology and Biological Sciences Research Council; Wellcome Trust; Chinese Society of Clinical Oncology; Juvenile Diabetes Research Foundation International","keywords":"Minor allele frequency; Genetics; Single-nucleotide polymorphism; Biology; Genome-wide association study; Locus (genetics); Genetic association; Allele; Candidate gene; Genotyping; SNP; Population; Genotype; Gene; Medicine","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":[0.001432912,0.0005807151,0.0004405403,0.0008692216,0.0004574748,0.000762804,0.0005389354,0.0007915869,0.003148832],"category_scores_gemma":[0.004855433,0.000357883,0.001041097,0.0007967653,0.0005940025,0.0002168234,0.000625789,0.0006731956,0.0002702438],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001427638,"about_ca_system_score_gemma":0.0003087593,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002758462,"about_ca_topic_score_gemma":0.002574687,"domain_scores_codex":[0.9986169,0.0004203091,0.0001438288,0.000543643,0.0001344961,0.0001407295],"domain_scores_gemma":[0.9966605,0.00155763,0.0006408619,0.0006243234,0.0001781938,0.0003384832],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002621342,0.00008257596,0.9771636,0.00005961937,0.001301934,0.001056923,0.0001455519,0.000337928,0.01116514,0.0003395861,0.0002480852,0.005477632],"study_design_scores_gemma":[0.0001314479,0.0002910111,0.9921355,0.00001351339,0.001216556,0.00159318,0.0001097727,0.00199787,0.001334297,0.0007224684,0.0004386688,0.00001567838],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982226,0.0004224991,0.0006268914,0.0000727624,0.00002116665,0.000008150661,0.0002866985,0.00002281638,0.0003164675],"genre_scores_gemma":[0.9992042,0.00007128448,0.0003667651,0.00002199251,0.00002339381,0.000005107619,0.0001521891,0.000007158987,0.0001479942],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003148832,"threshold_uncertainty_score":0.01053387,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01938522343314729,"score_gpt":0.2309214788260511,"score_spread":0.2115362553929038,"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."}}