{"id":"W3043909035","doi":"10.1016/j.jacl.2020.07.010","title":"Failure of cosegregation between a rare STAP1 missense variant and hypercholesterolemia","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":"","keywords":"Familial hypercholesterolemia; Missense mutation; PCSK9; Kexin; Proprotein convertase; Medicine; Locus (genetics); Genetics; Apolipoprotein B; Gene; LDL receptor; Lipoprotein; Internal medicine; Endocrinology; Cholesterol; Mutation; Biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005884615,0.001034688,0.0006228241,0.001671711,0.0008126182,0.0004359951,0.0008961099,0.002560674,0.007245484],"category_scores_gemma":[0.003818497,0.0002653856,0.0008319697,0.0008346718,0.000702495,0.000370187,0.0005545304,0.0008710402,0.001452572],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002146922,"about_ca_system_score_gemma":0.0002942072,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001415573,"about_ca_topic_score_gemma":0.0009890581,"domain_scores_codex":[0.9989125,0.0002154067,0.000209732,0.0002713453,0.0002262389,0.0001647974],"domain_scores_gemma":[0.9970113,0.001465943,0.0006128338,0.0003276936,0.0002106012,0.000371599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.003945782,0.0002861366,0.3083451,0.0001245705,0.0006001988,0.5150523,0.0007314662,0.0005443022,0.1527847,0.00125179,0.001529394,0.01480425],"study_design_scores_gemma":[0.000174002,0.001110549,0.2965256,0.00005092175,0.0005003139,0.6639461,0.0006752185,0.002746927,0.02928653,0.0008586267,0.004028949,0.00009640808],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950459,0.0003397124,0.001317173,0.0004539555,0.0001942517,0.00001479974,0.0004050754,0.00008013508,0.002149072],"genre_scores_gemma":[0.9988704,0.00004012027,0.0003120498,0.00007692598,0.0000828851,0.000004747304,0.0001105523,0.00001626725,0.0004861065],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007245484,"threshold_uncertainty_score":0.02423853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1003627404426221,"score_gpt":0.381254003830548,"score_spread":0.280891263387926,"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."}}