{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002700659,0.0001485737,0.001101406,0.00006899409,0.00005904982,0.000009263309,0.0001967574,0.0004215457,0.0005976834],"category_scores_gemma":[0.002939484,0.0001115179,0.001075077,0.0002083217,0.0001344835,0.00009330728,0.00007004142,0.001063839,0.0002245355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004090192,"about_ca_system_score_gemma":0.0008398478,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004890798,"about_ca_topic_score_gemma":0.000001038118,"domain_scores_codex":[0.9967171,0.0004597465,0.001743496,0.0002877365,0.0005436492,0.0002482653],"domain_scores_gemma":[0.9973211,0.0003745813,0.0007971472,0.000385197,0.0004812364,0.0006407842],"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":[0.009827889,0.002396782,0.05512314,0.000607098,0.003866692,0.0007607781,0.002344433,0.0000352455,0.04063269,0.000718053,0.4155151,0.4681721],"study_design_scores_gemma":[0.006013574,0.005723889,0.1175006,0.00007286591,0.0007276168,0.002698254,0.0001057992,0.0002200601,0.0006019403,0.0003035286,0.8658364,0.0001955354],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8115187,0.004076291,0.006166867,0.1726186,0.003379632,0.000599223,0.00004400459,0.00005011671,0.001546501],"genre_scores_gemma":[0.9100452,0.002433471,0.007236928,0.05420443,0.02553933,0.000008460978,0.00002928079,0.00003819585,0.0004646658],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4679766,"threshold_uncertainty_score":0.6544214,"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."}}