{"id":"W2953397392","doi":"10.1210/jc.2019-00849","title":"Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy","year":2019,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Lipid metabolism and biosynthesis","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"NIHR Cambridge Biomedical Research Centre; Institut National de la Santé et de la Recherche Médicale; Sorbonne Université; Centre hospitalier régional universitaire de Lille; Wellcome Trust; Agence Nationale de la Recherche; Ministère des Solidarités et de la Santé; Assistance publique-Hôpitaux de Paris; National Institute for Health and Care Research; Robarts Research Institute; Medical Research Council; University of Ottawa","keywords":"Lipodystrophy; Medicine; Genetics; Biology; Human immunodeficiency virus (HIV); Immunology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001341358,0.0009635322,0.0006287825,0.002504063,0.001104459,0.0006314276,0.001357631,0.001828665,0.001814044],"category_scores_gemma":[0.004699538,0.0002478817,0.0003731999,0.0005664274,0.0009664642,0.0009058439,0.0009260703,0.0009075899,0.0006411903],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007642658,"about_ca_system_score_gemma":0.0007153429,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002001182,"about_ca_topic_score_gemma":0.001996465,"domain_scores_codex":[0.9994356,0.0001136265,0.0000746377,0.00009834659,0.0001066246,0.0001711995],"domain_scores_gemma":[0.9987351,0.0004046806,0.0001796112,0.00006911362,0.0002716329,0.0003397255],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004446839,0.00007212815,0.3755546,0.000261164,0.00003850586,0.5753225,0.0006618527,0.0007154464,0.01999141,0.0005591694,0.002776225,0.02360233],"study_design_scores_gemma":[0.00004865042,0.0002366353,0.08452266,0.0001930265,0.00007876255,0.8992652,0.001866069,0.002905146,0.006156134,0.001165608,0.003533717,0.00002830035],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9794608,0.006035355,0.005120242,0.003332383,0.0002084596,0.0001080455,0.0001797529,0.0001572796,0.005397653],"genre_scores_gemma":[0.9937155,0.001417572,0.003267445,0.0006918016,0.0003443996,0.00002996924,0.0001938606,0.00001684283,0.0003226775],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002504063,"threshold_uncertainty_score":0.007093847,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02249691039409739,"score_gpt":0.3115209808713141,"score_spread":0.2890240704772167,"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."}}