{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001370713,0.000121926,0.0001324278,0.00003118206,0.00005029141,0.00002705138,0.000150847,0.0001175052,0.00002778285],"category_scores_gemma":[0.00003790348,0.00008749907,0.00002588104,0.00008167281,0.00005217564,0.000005345094,0.00007563685,0.00007658901,0.000007043206],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007105488,"about_ca_system_score_gemma":0.00005161341,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000174912,"about_ca_topic_score_gemma":0.00005370224,"domain_scores_codex":[0.9991486,0.0001006363,0.0001837746,0.0002089819,0.0001588401,0.0001991597],"domain_scores_gemma":[0.9994762,0.00001727399,0.00008506369,0.0002957833,0.00008441949,0.00004123553],"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":[0.00001098369,0.0001304673,0.006592747,0.00002075037,0.00006503354,0.000002270967,0.0001727765,0.00003122056,0.9922524,0.00006910321,0.0003213875,0.0003308449],"study_design_scores_gemma":[0.0005241676,0.0003666363,0.04376851,0.00002631373,0.00005183171,0.00001858089,0.00009243985,0.0008468037,0.9535508,0.0004775557,0.0001123382,0.0001640433],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979087,0.0005983709,0.0003491783,0.0002915983,0.00003338636,0.0004202912,0.00008243685,0.000003921174,0.0003121792],"genre_scores_gemma":[0.9979011,0.00006139956,0.001467708,0.0003517643,0.00007482858,0.00004124058,0.00001713655,0.00001794142,0.00006688121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03870163,"threshold_uncertainty_score":0.3568108,"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."}}