{"id":"W4310019132","doi":"10.1016/j.beem.2022.101719","title":"The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders","year":2022,"lang":"en","type":"review","venue":"Best Practice & Research Clinical Endocrinology & Metabolism","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"Canadian Institutes of Health Research; Heart and Stroke Foundation of Canada","keywords":"Genetic testing; Medicine; Genetic diagnosis; Genetic disorder; Dna testing; Bioinformatics; Intensive care medicine; Genetics; Biology; Internal medicine; Gene; Disease","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":[0.002993568,0.00113831,0.002691699,0.003271222,0.000312937,0.001979116,0.001613244,0.002061623,0.002145114],"category_scores_gemma":[0.004864056,0.0003664054,0.0008923427,0.002548142,0.001278989,0.002022795,0.001083673,0.003978066,0.001460851],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009082283,"about_ca_system_score_gemma":0.001661687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001779728,"about_ca_topic_score_gemma":0.002711637,"domain_scores_codex":[0.9990273,0.0002607101,0.0001536376,0.0001625659,0.0003436303,0.00005228338],"domain_scores_gemma":[0.9946705,0.004072302,0.000288745,0.000100868,0.0007154847,0.0001522033],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001116722,0.00004538554,0.0005366752,0.01087281,0.0002061134,0.0005718602,0.00005321685,0.0004008166,0.0006499551,0.004370856,0.02074887,0.9614317],"study_design_scores_gemma":[0.00008305702,0.0001540949,0.003348805,0.02065228,0.0007501112,0.00667629,0.0001772794,0.0004209481,0.000569194,0.01236481,0.9547052,0.00009783346],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00005898054,0.9984156,0.0001771615,0.0008002527,0.0001794248,0.000001638939,0.00001173386,0.000005208339,0.0003500033],"genre_scores_gemma":[0.0006139915,0.9977289,0.0004441117,0.0005654903,0.0004884551,0.000003422052,0.00002174381,0.000001953717,0.0001318751],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003271222,"threshold_uncertainty_score":0.01583171,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1750505143830784,"score_gpt":0.526294277664703,"score_spread":0.3512437632816247,"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."}}