{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003528873,0.0004010304,0.0003922094,0.0005842619,0.0003034015,0.0003672727,0.0001767837,0.000452018,0.002156211],"category_scores_gemma":[0.001054177,0.0001351667,0.000354601,0.000492162,0.0002557822,0.0000815512,0.0001735458,0.0002760258,0.0002827961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001170148,"about_ca_system_score_gemma":0.0001265114,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001719412,"about_ca_topic_score_gemma":0.001188083,"domain_scores_codex":[0.999818,0.00003631451,0.0000179956,0.0000558229,0.00004001203,0.00003181118],"domain_scores_gemma":[0.9996316,0.0001076452,0.0001160389,0.00004257409,0.00003133426,0.00007076992],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002655891,0.0001332034,0.9533756,0.00005621156,0.0006936863,0.002809156,0.000230432,0.0002557589,0.0266795,0.0001804299,0.001202214,0.01172785],"study_design_scores_gemma":[0.0001153502,0.0004063682,0.9897442,0.00001348719,0.0003642022,0.003799845,0.0001286362,0.0005845823,0.003537899,0.0001742364,0.001121877,0.000009237997],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988472,0.0003353383,0.0001786199,0.00006545322,0.00001380975,0.000003010736,0.0002649496,0.0000130218,0.0002784576],"genre_scores_gemma":[0.9989455,0.0000956182,0.0001349645,0.00003136646,0.00002748848,0.000002244639,0.0003568246,0.000004654017,0.0004012976],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002156211,"threshold_uncertainty_score":0.007213175,"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."}}