{"id":"W2149813409","doi":"10.1038/ng.628","title":"Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia","year":2010,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":444,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hamilton Health Sciences; McMaster University; Population Health Research Institute; Western University","funders":"National Center for Research Resources; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Genome-wide association study; Biology; Genetics; Genetic association; Missense mutation; Gene; Phenotype; Quantitative trait locus; Hypertriglyceridemia; Single-nucleotide polymorphism; Genotype; Cholesterol; Endocrinology","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":[0.001446141,0.000784185,0.0009921961,0.003141961,0.0008987511,0.001077032,0.0009669476,0.001781055,0.005155843],"category_scores_gemma":[0.005420055,0.0004935956,0.001145697,0.00193582,0.0008546208,0.0005255059,0.0006360424,0.001119766,0.0006705776],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001584054,"about_ca_system_score_gemma":0.0002086938,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001304647,"about_ca_topic_score_gemma":0.001249615,"domain_scores_codex":[0.9976698,0.000669635,0.0003621608,0.0006785929,0.0004399331,0.0001799196],"domain_scores_gemma":[0.993576,0.003340989,0.001329763,0.0008084523,0.00038858,0.0005562214],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.009463907,0.000281784,0.7759542,0.0002941971,0.003618998,0.01248684,0.0004346119,0.0007157793,0.1777708,0.00122253,0.001314383,0.0164421],"study_design_scores_gemma":[0.0002857121,0.0003918697,0.9697505,0.00005145602,0.002473554,0.01738209,0.0001816964,0.001381774,0.005457237,0.00120329,0.001396611,0.00004422033],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943151,0.002103046,0.001350122,0.0002882597,0.0001106398,0.000008895916,0.0005959194,0.00008536207,0.001142702],"genre_scores_gemma":[0.9984384,0.0002404056,0.0004231304,0.0001045316,0.0001276929,0.000004976718,0.000314108,0.00002395411,0.0003228021],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005155843,"threshold_uncertainty_score":0.01724797,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007257673477195975,"score_gpt":0.2656347536626905,"score_spread":0.2583770801854945,"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."}}