{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001164362,0.0006325371,0.0008472795,0.00202479,0.0002288215,0.001159176,0.0008949212,0.001806086,0.005458842],"category_scores_gemma":[0.004712238,0.000166727,0.0005240203,0.001501648,0.0004211714,0.0008390745,0.0005377433,0.001599722,0.00271279],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001009571,"about_ca_system_score_gemma":0.00145717,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00294436,"about_ca_topic_score_gemma":0.004554849,"domain_scores_codex":[0.9995424,0.0000843778,0.00008548885,0.00007261782,0.0001639733,0.00005132005],"domain_scores_gemma":[0.9979373,0.0005986444,0.0001929041,0.00006249482,0.0009318262,0.0002767683],"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":[0.000381968,0.00006357212,0.00690832,0.0007061295,0.00008180778,0.0009045253,0.00002447322,0.0001940178,0.0007171921,0.001194808,0.4324589,0.5563643],"study_design_scores_gemma":[0.0002863232,0.0001455393,0.01915414,0.001710547,0.0004128146,0.006875769,0.00006041647,0.0005049186,0.0009260759,0.001416754,0.9684663,0.00004049306],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"other","genre_scores_codex":[0.03310937,0.670418,0.009483693,0.1463667,0.03971623,0.0002730674,0.008294322,0.001410307,0.09092832],"genre_scores_gemma":[0.1227089,0.652892,0.02601541,0.06651262,0.04773185,0.0004679593,0.0331233,0.0004548759,0.05009311],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.005458842,"threshold_uncertainty_score":0.01826161,"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."}}