{"id":"W2170076251","doi":"10.1073/pnas.242716699","title":"Identification of a gene causing human cytochrome <i>c</i> oxidase deficiency by integrative genomics","year":2003,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":573,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre","funders":"","keywords":"Biology; Genetics; Gene; OMIM : Online Mendelian Inheritance in Man; Genomics; Computational biology; Mitochondrial DNA; Human genome; Functional genomics; Genome; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0001714602,0.0004684719,0.0002809182,0.0005570395,0.0003249308,0.0003562986,0.0002135576,0.0003975264,0.0007367847],"category_scores_gemma":[0.0002314352,0.00009034119,0.0003849324,0.0003197854,0.0004174732,0.000141723,0.0002079626,0.000632657,0.0002740674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007357828,"about_ca_system_score_gemma":0.0006734032,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009389511,"about_ca_topic_score_gemma":0.00997533,"domain_scores_codex":[0.9999192,0.000007467491,0.000003807186,0.00003217824,0.00002049693,0.00001683663],"domain_scores_gemma":[0.9999027,0.00003534176,0.0000202007,0.00000804482,0.00001179542,0.00002194388],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000400183,0.0001154462,0.006285306,0.000168515,0.00003842833,0.001471882,0.0001509429,0.0007124096,0.9542906,0.001223934,0.0005390111,0.03460331],"study_design_scores_gemma":[0.0001696546,0.000972239,0.1825274,0.0001039355,0.000465307,0.01087593,0.0006196481,0.01539633,0.7467085,0.004418893,0.03764974,0.00009250377],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9565847,0.00260528,0.03377121,0.001389735,0.00006383204,0.000121418,0.001745169,0.0005149858,0.003203683],"genre_scores_gemma":[0.9345548,0.002604138,0.05417003,0.000416229,0.00005331054,0.00005357736,0.005576201,0.00006812537,0.002503527],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009389511,"threshold_uncertainty_score":0.01866972,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02408309780225921,"score_gpt":0.2936782799841,"score_spread":0.2695951821818408,"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."}}