{"id":"W2162960564","doi":"10.1161/circgenetics.114.000776","title":"Exome Sequencing in Suspected Monogenic Dyslipidemias","year":2015,"lang":"en","type":"article","venue":"Circulation Cardiovascular Genetics","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":54,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Heart, Lung, and Blood Institute; National Institute on Aging; University of California, San Francisco; Saint Joseph University; Fondation Leducq; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Agence Nationale de la Recherche; Perelman School of Medicine, University of Pennsylvania; Kanazawa University; European Commission; Broad Institute; Università Degli Studi di Modena e Reggio Emila; McGill University; McGill University Health Centre; Institut National de la Santé et de la Recherche Médicale; Donovan Family Foundation; University of Washington; University of Pennsylvania; Università degli Studi di Palermo; King Abdulaziz University; Massachusetts General Hospital","keywords":"Exome sequencing; Exome; Medicine; Genetics; Computational biology; Biology; Mutation; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.002271932,0.0002661172,0.0008438251,0.0003136571,0.00006258218,0.00003338524,0.000123284,0.0002707798,0.00002065057],"category_scores_gemma":[0.0003138137,0.0002753996,0.001088824,0.0008753628,0.00005631073,0.00009307449,0.00006122151,0.0003376194,0.0000890244],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001539371,"about_ca_system_score_gemma":0.001037177,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002790541,"about_ca_topic_score_gemma":0.00002187359,"domain_scores_codex":[0.9967248,0.0003149367,0.0005947842,0.000590017,0.001272654,0.0005027626],"domain_scores_gemma":[0.9975416,0.00002165641,0.00007996678,0.001480628,0.0004170966,0.0004590474],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"observational","study_design_scores_codex":[0.0001928069,0.0001878034,0.2969555,0.0006964059,0.00603024,0.001339002,0.00322323,0.5593011,0.006217747,0.0006675306,0.0005440598,0.1246446],"study_design_scores_gemma":[0.01518706,0.0003178213,0.8659423,0.0003192128,0.002147689,0.0026162,0.002007278,0.05276522,0.004730898,0.001461596,0.05106268,0.001442076],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9494238,0.03264882,0.01327039,0.0001068388,0.0004197101,0.001182239,0.000003478094,0.0001488653,0.002795822],"genre_scores_gemma":[0.9955074,0.0004513286,0.002793464,0.0001987858,0.0008056904,0.00005964197,0.00006455658,0.00006988653,0.00004923609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5689868,"threshold_uncertainty_score":0.9999698,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06660301113450388,"score_gpt":0.27958764212788,"score_spread":0.2129846309933761,"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."}}