{"id":"W2041216048","doi":"10.1038/ejhg.2014.224","title":"Clinical utility gene card for: Abetalipoproteinaemia – Update 2014","year":2014,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":23,"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":"Report card; Genetics; Biology; Gene; Computational biology; Psychology","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":[0.003447041,0.0001773101,0.0005495488,0.00009144044,0.0001034456,0.00002896116,0.0002834217,0.00004872855,0.00008015961],"category_scores_gemma":[0.0002806879,0.0001422832,0.0004309853,0.00005180872,0.0001621667,0.00004330898,0.000069187,0.0003291193,0.00008390714],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009954405,"about_ca_system_score_gemma":0.00006989032,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":8.281027e-7,"about_ca_topic_score_gemma":0.000001184137,"domain_scores_codex":[0.9975863,0.0005247075,0.001073733,0.0002161842,0.0003293133,0.0002697996],"domain_scores_gemma":[0.9982146,0.00005039387,0.0005004633,0.0005048244,0.0003743413,0.0003553812],"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":[0.0011276,0.001134063,0.2568259,0.0004055744,0.0008310787,0.0002181048,0.0006021845,0.00007106714,0.02380225,0.0009417492,0.2424536,0.4715868],"study_design_scores_gemma":[0.005876432,0.002131064,0.3335449,0.00005260248,0.000549346,0.0001147592,0.0000426576,0.00008218366,0.002849402,0.000443986,0.6540921,0.0002205219],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9785856,0.002398356,0.01161719,0.0003630524,0.001092814,0.0002588701,0.00001010152,0.00002180018,0.005652197],"genre_scores_gemma":[0.9797043,0.0005911434,0.01489093,0.0009484328,0.003432323,7.264542e-7,0.00001525481,0.00005874086,0.0003581923],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4713663,"threshold_uncertainty_score":0.580214,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03748160882279889,"score_gpt":0.3242382708644607,"score_spread":0.2867566620416618,"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."}}