{"id":"W4400422940","doi":"10.1038/s41588-024-01827-2","title":"Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import","year":2024,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; NIH Office of the Director; National Human Genome Research Institute; National Institute on Drug Abuse; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institutes of Health; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Jewish General Hospital; National Institute on Aging; Damon Runyon Cancer Research Foundation; Boehringer Ingelheim Fonds; Common Fund; Servier; National Cancer Institute; Itä-Suomen Yliopisto","keywords":"Biology; Function (biology); Gene; Computational biology; Choline; Genetics; Mitochondrion; Bioinformatics; Biochemistry","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":[0.000541335,0.0004904016,0.0005127777,0.00108047,0.0004454691,0.0007302618,0.0003917126,0.0005046771,0.008455452],"category_scores_gemma":[0.001385221,0.0001625052,0.0007751114,0.001006237,0.0002509048,0.0001984285,0.000579388,0.0006293755,0.001196896],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002889977,"about_ca_system_score_gemma":0.0007754812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002809579,"about_ca_topic_score_gemma":0.005849176,"domain_scores_codex":[0.9997545,0.00003565686,0.00001337471,0.00008628758,0.0000754847,0.0000347695],"domain_scores_gemma":[0.9994239,0.0002740708,0.00009897735,0.00005107225,0.00006045006,0.00009161288],"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":[0.002989116,0.0002472319,0.2165434,0.001531887,0.001386561,0.01274196,0.000647661,0.01070196,0.4711127,0.009972514,0.07696214,0.1951629],"study_design_scores_gemma":[0.001212911,0.00103257,0.5908902,0.0004067329,0.002383753,0.01191191,0.00046827,0.07639322,0.1158269,0.02202461,0.1772135,0.0002354789],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8350058,0.003814253,0.06632539,0.004145927,0.0005036237,0.0001788595,0.07268887,0.006184593,0.01115269],"genre_scores_gemma":[0.9198408,0.001206008,0.04437355,0.0007516064,0.0001127698,0.0001382465,0.02988207,0.0003415417,0.003353436],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008455452,"threshold_uncertainty_score":0.02828634,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007219360195319663,"score_gpt":0.270405015781656,"score_spread":0.2631856555863363,"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."}}