{"id":"W4292608015","doi":"10.1186/s40246-022-00408-w","title":"SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects","year":2022,"lang":"en","type":"article","venue":"Human Genomics","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto","funders":"National Cancer Institute; University of California, San Diego; USC Norris Comprehensive Cancer Center; School of Pharmacy, University of Southern California; Broad Institute; University of Southern California","keywords":"Biology; Peroxisome; Endocrinology; Internal medicine; Beta oxidation; Neurodegeneration; Peroxisomal disorder; Mutation; Fatty acid metabolism; Biochemistry; Metabolism; Gene; Medicine; Disease","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":[0.0001874943,0.002716406,0.0008757618,0.001558394,0.0009579015,0.0005603622,0.0006395536,0.002054924,0.003405452],"category_scores_gemma":[0.0008366961,0.0003441822,0.000567336,0.001513253,0.0009123051,0.0003444816,0.0006905046,0.0009397147,0.0005300637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000392515,"about_ca_system_score_gemma":0.00053831,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00169419,"about_ca_topic_score_gemma":0.002301528,"domain_scores_codex":[0.9996018,0.00002352682,0.00003775975,0.0001656251,0.0001052783,0.00006611148],"domain_scores_gemma":[0.9994804,0.00008830187,0.0001477952,0.00002805916,0.00004933274,0.0002062134],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005657683,0.0001114248,0.0472201,0.0002030732,0.0001655737,0.859599,0.0002737208,0.0002405678,0.08502688,0.0003671825,0.0009993021,0.005227402],"study_design_scores_gemma":[0.00005943136,0.0002882387,0.07166188,0.00003925484,0.00008753691,0.9124711,0.0001333159,0.0004974319,0.01250358,0.0002629459,0.001960302,0.00003504522],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930194,0.001630957,0.001461126,0.0004456187,0.0001269902,0.00007611114,0.00110029,0.0001794345,0.001959943],"genre_scores_gemma":[0.9962931,0.0005392433,0.0008858741,0.0001544747,0.0001340958,0.00002422913,0.0006670194,0.00004443612,0.001257475],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003405452,"threshold_uncertainty_score":0.01139235,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01024029586230171,"score_gpt":0.2135552783351609,"score_spread":0.2033149824728592,"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."}}