{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001214835,0.0003830133,0.0003705091,0.001417866,0.0004365971,0.0005178496,0.0003469232,0.0008930226,0.001358364],"category_scores_gemma":[0.002677505,0.0001525132,0.0002574987,0.0008352459,0.0002690273,0.0003327898,0.0005952888,0.0004133498,0.0003658702],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003318175,"about_ca_system_score_gemma":0.0002444949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005059566,"about_ca_topic_score_gemma":0.0008651777,"domain_scores_codex":[0.9995705,0.0001222933,0.00008246428,0.0001061002,0.00007196382,0.00004666342],"domain_scores_gemma":[0.9985861,0.000721884,0.0002999658,0.0001216255,0.0001870808,0.00008335654],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002233547,0.000151887,0.7080445,0.0007421278,0.0004624904,0.05147104,0.00113918,0.001716524,0.1663254,0.001393302,0.003799185,0.06252091],"study_design_scores_gemma":[0.0002325614,0.0006756975,0.7367412,0.0006161432,0.0007056211,0.1403216,0.001259119,0.009632569,0.08475368,0.00565863,0.01933454,0.00006865172],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.986329,0.002652542,0.007332749,0.0006385925,0.00003576616,0.00007516758,0.001081397,0.00006288002,0.001791899],"genre_scores_gemma":[0.9920276,0.0009723997,0.005204741,0.000416027,0.00003892701,0.00004171227,0.0009126577,0.00001957203,0.0003664106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001417866,"threshold_uncertainty_score":0.006424725,"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."}}