{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001916799,0.0001649703,0.0001630284,0.0000876905,0.0003914346,0.00006216027,0.0001273086,0.0000709649,0.00004041213],"category_scores_gemma":[0.00004907962,0.0001710626,0.00002989386,0.0001570243,0.00004803137,0.000007907493,0.0001515574,0.0001744327,0.000001591913],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000667524,"about_ca_system_score_gemma":0.0001283079,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001564971,"about_ca_topic_score_gemma":0.0000960749,"domain_scores_codex":[0.9988894,0.0001690123,0.0002046049,0.0003954997,0.0001213314,0.0002201327],"domain_scores_gemma":[0.9995187,0.00001175909,0.00009620728,0.0002410931,0.00005987201,0.00007236407],"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":[0.00003269603,0.0001119991,0.002911811,0.000004658227,0.00006632906,0.00001241582,0.0003900015,0.003721038,0.9917967,0.0003145443,0.0005791077,0.0000587546],"study_design_scores_gemma":[0.004226632,0.001040774,0.01394147,0.00001753628,0.0001316452,0.0002027402,0.000363253,0.002529237,0.9264186,0.0001655108,0.04984705,0.001115527],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987898,0.0003601728,0.0001738654,0.0000851244,0.00009178632,0.0002656144,0.00007441729,0.00001761773,0.0001416396],"genre_scores_gemma":[0.9979599,0.00002887995,0.0002290144,0.0008874055,0.0001372377,0.00009067872,0.0004335908,0.00004057572,0.0001927353],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06537801,"threshold_uncertainty_score":0.6975731,"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."}}