{"id":"W4304193755","doi":"10.1038/s41467-022-33510-7","title":"Whole genome sequence analysis of blood lipid levels in >66,000 individuals","year":2022,"lang":"en","type":"article","venue":"Nature Communications","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Université de Montréal; Université Laval; University of Ottawa; McGill University; University of Calgary","funders":"National Institute of Environmental Health Sciences; National Human Genome Research Institute; National Institute on Aging; National Cancer Institute; Science and Technology Facilities Council; Boston Scientific Corporation; Novo Nordisk Fonden; Yale University; Invitae; Bristol-Myers Squibb; AstraZeneca; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Pfizer; National Institute of Diabetes and Digestive and Kidney Diseases; Amgen; Regeneron Pharmaceuticals; U.S. Department of Veterans Affairs; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Genetics; Biology; Gene; Mendelian inheritance; Whole genome sequencing; Dyslipidemia; Genome; Allele; Computational biology; Genome-wide association study; Single-nucleotide polymorphism; Genotype; Endocrinology","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":[],"consensus_categories":[],"category_scores_codex":[0.001246805,0.0001020688,0.0004945413,0.0005988869,0.0002273896,0.000008669277,0.0007876207,0.0001351815,0.0002018721],"category_scores_gemma":[0.0001276386,0.0001020913,0.0003027962,0.002873733,0.00008613073,0.00004956162,0.0005394722,0.001280295,0.000003188602],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001149841,"about_ca_system_score_gemma":0.0002298537,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003221844,"about_ca_topic_score_gemma":0.0004990456,"domain_scores_codex":[0.9983111,0.0003879879,0.0003851165,0.0002043462,0.0005271393,0.0001842992],"domain_scores_gemma":[0.9965821,0.0001112279,0.0001467852,0.002948493,0.0001321909,0.00007920195],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001365728,0.009604104,0.6241418,0.0006276115,0.03497194,0.00009736666,0.02174199,0.00721639,0.2179897,0.03976639,0.002662312,0.04104393],"study_design_scores_gemma":[0.00112131,0.0001272586,0.7403055,0.00002810047,0.003066334,0.00003469362,0.0005659555,0.0004032498,0.000220796,0.0000830747,0.2538725,0.0001712835],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9287217,0.05578818,0.00003734972,0.008006296,0.0001177422,0.001056317,0.002114497,0.00007027389,0.004087608],"genre_scores_gemma":[0.9947274,0.0007149071,0.002429871,0.0008120612,0.00003365905,0.0001601413,0.0009293921,0.00001451695,0.0001780367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2512102,"threshold_uncertainty_score":0.5562316,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04191027720859829,"score_gpt":0.3284190077022027,"score_spread":0.2865087304936044,"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."}}