{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001312187,0.0001567228,0.000122874,0.00005336677,0.0001019274,0.00001268192,0.0001999152,0.0002516163,0.0001336008],"category_scores_gemma":[0.0001543205,0.0001484752,0.0000669776,0.0000823271,0.0001232233,0.000003594483,0.0001043872,0.0001974688,0.000117508],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004952324,"about_ca_system_score_gemma":0.00005095168,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007464214,"about_ca_topic_score_gemma":0.000008128491,"domain_scores_codex":[0.9987862,0.0001585715,0.0001573949,0.0004504004,0.0001222955,0.0003251088],"domain_scores_gemma":[0.9994889,0.00001195396,0.00005676562,0.0002968938,0.00005719416,0.00008831004],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002423233,0.00006914109,0.00663597,0.000005092033,0.000009650623,0.00000143874,0.000006103234,0.00004941272,0.990315,0.0007088218,0.0007630566,0.001193966],"study_design_scores_gemma":[0.0007988069,0.003174869,0.006390855,0.000001844619,0.000008114057,0.0001190548,0.000002477955,0.0001783006,0.7610221,0.000340538,0.2276748,0.0002881914],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931881,0.00007211624,0.001415519,0.0006704933,0.000368211,0.0001508302,0.00000396431,0.00004034833,0.004090357],"genre_scores_gemma":[0.9970627,0.000006226749,0.0002188902,0.001811123,0.0004675231,0.00005730137,0.00003673348,0.00002752478,0.0003119855],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2292929,"threshold_uncertainty_score":0.6054642,"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."}}