{"id":"W2478496979","doi":"10.1056/nejmoa1405386","title":"Inactivating Mutations in <i>NPC1L1</i> and Protection from Coronary Heart Disease","year":2014,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":423,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Institute of Nursing Research; National Cancer Institute; National Human Genome Research Institute; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institute on Aging; National Institute for Health and Care Research; Canadian Institutes of Health Research; British Heart Foundation; Medical Research Council","keywords":"Ezetimibe; Medicine; Nonsense mutation; Internal medicine; Frameshift mutation; Coronary artery disease; Odds ratio; Point mutation; Endocrinology; Exon; Cholesterol; Mutation; Genetics; Gene; Missense mutation; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002693222,0.0003375385,0.0002387105,0.0004411236,0.0002160658,0.0002623681,0.0001864431,0.0004465965,0.002008567],"category_scores_gemma":[0.001101893,0.0001246637,0.0002140226,0.0002927528,0.0003164046,0.0001217339,0.000137093,0.0002778969,0.0001964739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000207027,"about_ca_system_score_gemma":0.0001091079,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001610981,"about_ca_topic_score_gemma":0.0008566619,"domain_scores_codex":[0.999887,0.00002206832,0.00001524409,0.00003443148,0.00001916685,0.00002199203],"domain_scores_gemma":[0.9994882,0.0001162389,0.000251696,0.00002429317,0.00005007924,0.00006957232],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003799777,0.0001802266,0.9599818,0.00006148418,0.0002700028,0.001223313,0.0001505724,0.0002188993,0.02420661,0.000152557,0.000493991,0.009260654],"study_design_scores_gemma":[0.0001496314,0.0008580041,0.9858846,0.00002490907,0.0002697926,0.005269335,0.00008185047,0.0004618459,0.00578045,0.0001365065,0.001074924,0.000008257519],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991411,0.0004099598,0.00005602994,0.00004911576,0.00000403416,0.000002745119,0.00007035871,0.000006353697,0.0002602186],"genre_scores_gemma":[0.9995329,0.0001206647,0.00007599999,0.00003063076,0.00001225223,0.000002293539,0.00008799126,0.000002809079,0.0001343782],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002008567,"threshold_uncertainty_score":0.006719291,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02507927342589713,"score_gpt":0.2964017960618981,"score_spread":0.271322522636001,"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."}}