{"id":"W3035497061","doi":"10.1016/j.jacl.2020.06.007","title":"A cautionary tale: Is this APOB whole-gene duplication actually pathogenic?","year":2020,"lang":"en","type":"article","venue":"Journal of clinical lipidology","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"Canadian Institutes of Health Research; Heart and Stroke Foundation of Canada","keywords":"Gene duplication; Apolipoprotein B; Medicine; Sanger sequencing; Familial hypercholesterolemia; Gene; LDL receptor; Genetics; Ldl cholesterol; Bioinformatics; Cholesterol; Lipoprotein; Internal medicine; Biology; Mutation","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":[0.01213138,0.001402127,0.002109103,0.001602849,0.003069792,0.003999814,0.005386808,0.0223499,0.006885711],"category_scores_gemma":[0.1029889,0.0006038253,0.001155495,0.001029863,0.01015679,0.00683499,0.00322112,0.03339387,0.005274457],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008802451,"about_ca_system_score_gemma":0.001817466,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002354197,"about_ca_topic_score_gemma":0.002273654,"domain_scores_codex":[0.9955267,0.001289227,0.0006117538,0.001423389,0.0008549442,0.0002939465],"domain_scores_gemma":[0.951081,0.03745368,0.001933598,0.003524563,0.004033702,0.001973408],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"case_report","study_design_scores_codex":[0.0008139033,0.0000775165,0.01114603,0.0006048104,0.0005414598,0.04859939,0.002330526,0.0004063376,0.002114967,0.03080454,0.8312993,0.07126121],"study_design_scores_gemma":[0.0006540135,0.0002642699,0.009318772,0.001839703,0.0006854561,0.09948551,0.005014581,0.003274873,0.002370092,0.2899664,0.5866108,0.0005155921],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.003954949,0.008121877,0.00513966,0.9311815,0.04827211,0.00003120537,0.0002176381,0.0003221622,0.002758853],"genre_scores_gemma":[0.05805223,0.005894583,0.009859041,0.8081597,0.1117293,0.00005858619,0.0001778747,0.0001403453,0.005928423],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.0223499,"threshold_uncertainty_score":0.06415761,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08394923489520024,"score_gpt":0.3789151098864681,"score_spread":0.2949658749912679,"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."}}