{"id":"W2069769433","doi":"10.1212/wnl.0000000000000219","title":"Peroxisomal D-bifunctional protein deficiency","year":2014,"lang":"en","type":"article","venue":"Neurology","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":70,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Health Sciences Centre; Children's Hospital of Eastern Ontario; Hospital for Sick Children; Toronto Western Hospital; University of Ottawa; Sunnybrook Health Science Centre","funders":"","keywords":"Exome sequencing; Proband; Compound heterozygosity; Exome; Genetics; Biology; Mutation; Medicine; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001192186,0.0008627011,0.0002551426,0.000336334,0.0004007493,0.0001746888,0.0001994135,0.0006184186,0.002199748],"category_scores_gemma":[0.0003643262,0.0001238932,0.0002268283,0.0001724089,0.000378519,0.0001658435,0.0003016738,0.0003584841,0.0003288055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002826378,"about_ca_system_score_gemma":0.0003387195,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001499478,"about_ca_topic_score_gemma":0.001055871,"domain_scores_codex":[0.999916,0.000007710728,0.00001248778,0.00003542013,0.00001372681,0.00001473012],"domain_scores_gemma":[0.9998766,0.00003422203,0.00002247293,0.000005371821,0.00001561049,0.00004568975],"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":[0.001731079,0.0003110265,0.2502539,0.0004210852,0.0001302998,0.3669234,0.0008173817,0.0004191355,0.3441508,0.0006180645,0.001308356,0.0329155],"study_design_scores_gemma":[0.0002030533,0.001156161,0.2900546,0.0001007729,0.0001629141,0.6035631,0.0004139853,0.0009786191,0.09759089,0.000353556,0.005397332,0.00002494224],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964764,0.0008410282,0.0008406048,0.0001684231,0.00001550675,0.00003384853,0.0003334257,0.00004377011,0.001247102],"genre_scores_gemma":[0.9976277,0.0003185817,0.001081876,0.00009566972,0.000009502861,0.00001256013,0.0002096029,0.000009717634,0.000634792],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002199748,"threshold_uncertainty_score":0.007358849,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005890957569963917,"score_gpt":0.2075655483079785,"score_spread":0.2016745907380146,"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."}}