{"id":"W2106937178","doi":"10.1056/nejmoa1002926","title":"Exome Sequencing,<i>ANGPTL3</i>Mutations, and Familial Combined Hypolipidemia","year":2010,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":778,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Donovan Family Foundation; Canadian Institutes of Health Research; Sarnoff Cardiovascular Research Foundation; Broad Institute; National Institutes of Health","keywords":"Exome sequencing; Exome; Genetics; Nonsense mutation; Medicine; Endocrinology; Lipoprotein lipase; Cholesterol; Internal medicine; Gene; Biology; Mutation; Missense mutation","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":[0.0001905521,0.000541938,0.0002318853,0.0007443591,0.0004511291,0.000293623,0.0002028086,0.0007999425,0.001976583],"category_scores_gemma":[0.0006995212,0.0001370025,0.0002322287,0.0004412521,0.0002047114,0.0001480433,0.0003233409,0.0003499875,0.0002014086],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002124931,"about_ca_system_score_gemma":0.0001348028,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001842593,"about_ca_topic_score_gemma":0.003199194,"domain_scores_codex":[0.9998459,0.00002469426,0.00001954259,0.00005123317,0.00003411524,0.00002456385],"domain_scores_gemma":[0.9997539,0.00009577684,0.0000527614,0.00001854673,0.00002600723,0.00005304206],"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":[0.002922368,0.0002886431,0.2483788,0.0002621084,0.0005034954,0.1490379,0.001573936,0.0009971268,0.5458755,0.0009504901,0.003880228,0.04532943],"study_design_scores_gemma":[0.0002155482,0.0004630781,0.6218865,0.0001133851,0.0006221721,0.2611138,0.0006583552,0.002746198,0.09772439,0.001264887,0.01312876,0.00006299176],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946292,0.0003823362,0.001808687,0.0003809313,0.00002015338,0.00002714247,0.001373363,0.00003334845,0.001344813],"genre_scores_gemma":[0.9943829,0.0003401529,0.002491815,0.0002789448,0.00002633726,0.00003522836,0.00123108,0.00002357743,0.00118999],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001976583,"threshold_uncertainty_score":0.006612301,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01630827918699832,"score_gpt":0.2732539513863692,"score_spread":0.2569456721993708,"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."}}