{"id":"W2928519858","doi":"10.1101/594523","title":"A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Liver Disease Diagnosis and Treatment","field":"Medicine","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health; Fondation Leducq; Deutsche Forschungsgemeinschaft; Exzellenzclusters Entzündungsforschung; British Heart Foundation; Bayer HealthCare; Sanofi; European Commission; National Institute on Minority Health and Health Disparities; Regione Emilia-Romagna; Quest Diagnostics; Amarin Corporation; National Institute of General Medical Sciences; Bundesministerium für Bildung und Forschung; Massachusetts General Hospital; National Institute for Health and Care Research; Regeneron Pharmaceuticals; Donovan Family Foundation; Alnylam Pharmaceuticals; AstraZeneca","keywords":"Missense mutation; Cirrhosis; Alkaline phosphatase; Liver disease; Alanine transaminase; Internal medicine; Odds ratio; Fatty liver; Medicine; Biology; Gene; Disease; Enzyme; Biochemistry; Mutation","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002134949,0.0006104474,0.0007795878,0.0003809094,0.0001006331,0.0001419836,0.0001388572,0.0003541377,0.00002696988],"category_scores_gemma":[0.0001465442,0.0005977002,0.0002103559,0.0002479294,0.00008705287,0.0001082155,0.0003175709,0.0006166128,0.00006117185],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006670279,"about_ca_system_score_gemma":0.0007852863,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004301986,"about_ca_topic_score_gemma":0.000003745149,"domain_scores_codex":[0.9970066,0.0001738965,0.0005469114,0.001335809,0.0004403638,0.0004964135],"domain_scores_gemma":[0.9975675,0.00004987154,0.000298216,0.001150897,0.0002426899,0.0006908482],"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":[0.002436616,0.004650903,0.03691413,0.004345348,0.001267074,0.01790079,0.00009984315,0.0007500691,0.9311182,0.0001341841,0.0003527407,0.00003011492],"study_design_scores_gemma":[0.005072089,0.0001971,0.9428592,0.003802003,0.001119031,4.908106e-7,0.000003564779,0.00729312,0.03814089,0.000001460185,0.0005381758,0.0009728903],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989648,0.004456138,0.0001388252,0.0004267195,0.001033976,0.003839224,0.0002752474,0.0001769852,0.00000485174],"genre_scores_gemma":[0.9952577,0.00125286,0.001744283,0.0002402408,0.0006310145,0.0007455061,0.000003598942,0.0001184558,0.000006350317],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9059451,"threshold_uncertainty_score":0.9996474,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01623382102608543,"score_gpt":0.2161184229443783,"score_spread":0.1998846019182929,"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."}}