{"id":"W4413946349","doi":"10.1038/s41586-025-09373-5","title":"Genetic suppression features ABHD18 as a Barth syndrome therapeutic target","year":2025,"lang":"en","type":"article","venue":"Nature","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ted Rogers Centre for Heart Research; Canadian Heart Research Centre; Toronto Centre for Phenogenomics; University of Toronto; University Health Network; SickKids Foundation; Stem Cell Network; Hospital for Sick Children","funders":"","keywords":"Computational biology; Biology; Evolutionary biology; Genetics","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":[0.0001796213,0.0003732341,0.0002660917,0.0002804585,0.0002377678,0.0005823841,0.0003841928,0.0005512667,0.00326601],"category_scores_gemma":[0.0001194759,0.0001283062,0.0002539188,0.0001856983,0.0003237503,0.0002147433,0.0002280698,0.001015621,0.001079881],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003370431,"about_ca_system_score_gemma":0.0003056064,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004055919,"about_ca_topic_score_gemma":0.0006442426,"domain_scores_codex":[0.999877,0.00001424707,0.000008476053,0.00001972603,0.00004354454,0.00003711375],"domain_scores_gemma":[0.9999382,0.00001140182,0.00001226499,0.000008617716,0.000007555249,0.00002189245],"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":[0.000615854,0.0001697969,0.0009334643,0.00008643587,0.00003071017,0.001163675,0.00002847853,0.0006711818,0.9502246,0.004486921,0.004175971,0.03741279],"study_design_scores_gemma":[0.0002975389,0.000991525,0.00345182,0.00002399015,0.0000732783,0.005089223,0.00005699931,0.00229595,0.8882267,0.001728822,0.09774465,0.00001957898],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9252498,0.01220389,0.01517527,0.005276838,0.001132145,0.0001711844,0.00245574,0.001554232,0.03678097],"genre_scores_gemma":[0.9778211,0.00363347,0.006526178,0.0004921636,0.0001205901,0.0000686928,0.001178103,0.00009181766,0.01006786],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00326601,"threshold_uncertainty_score":0.01092589,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002771797240000423,"score_gpt":0.2376440088879582,"score_spread":0.2348722116479577,"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."}}