{"id":"W1982174459","doi":"10.1038/ejhg.2014.225","title":"Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) – Update 2014","year":2014,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":false,"ca_institutions":"Robarts Clinical Trials","funders":"Canadian Institutes of Health Research; Genome Canada; Royal Perth Hospital Medical Research Foundation; Heart and Stroke Foundation of Canada","keywords":"Genetics; Medical genetics; Biology; Gene; Human genetics; Computational biology; Bioinformatics; Medicine","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":[0.003591545,0.0002263159,0.0006634626,0.0001116192,0.0001418284,0.00003499762,0.0003497054,0.00006610436,0.00007295228],"category_scores_gemma":[0.0003712612,0.0001847801,0.000533642,0.00006220279,0.0002139058,0.00005483222,0.00009285467,0.0004105074,0.00009097893],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001450528,"about_ca_system_score_gemma":0.00009990243,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001947097,"about_ca_topic_score_gemma":0.000002428239,"domain_scores_codex":[0.9970417,0.0006501884,0.001276327,0.0002749799,0.000420718,0.0003360622],"domain_scores_gemma":[0.997953,0.00006410752,0.0005587184,0.0005762113,0.0004274916,0.0004204624],"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":[0.002144408,0.001499546,0.1824305,0.0004449836,0.0009879017,0.000302937,0.0008011943,0.0001047347,0.04314899,0.0009495556,0.283153,0.4840323],"study_design_scores_gemma":[0.00901842,0.003007748,0.3613901,0.00006337622,0.0007737186,0.0001501684,0.0000782006,0.0001323169,0.004189573,0.000552556,0.6203151,0.0003286891],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9801785,0.002147235,0.010146,0.0002907002,0.00155446,0.0003129011,0.00001720952,0.00002613299,0.005326869],"genre_scores_gemma":[0.9785662,0.0006931453,0.01420394,0.0009909337,0.005066923,0.00000103474,0.00002168166,0.00007268522,0.0003834463],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4837036,"threshold_uncertainty_score":0.7535113,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03797742996261943,"score_gpt":0.3176090888969832,"score_spread":0.2796316589343638,"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."}}