{"id":"W4406725514","doi":"10.1101/2025.01.18.633635","title":"Immune cell mitochondrial phenotypes are largely preserved in mitochondrial diseases and do not reflect disease severity","year":2025,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"","keywords":"Phenotype; Immune system; Disease; Mitochondrial disease; Mitochondrion; Mitochondrial DNA; Biology; Clinical phenotype; Cell; Immunology; Genetics; Medicine; Pathology; Gene","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":[0.000413272,0.0003693033,0.0003783224,0.0006800791,0.000261731,0.0005447387,0.0001866319,0.0003630949,0.001692604],"category_scores_gemma":[0.0009015902,0.0001456817,0.0001461491,0.0003924774,0.0003453916,0.000318931,0.0004316628,0.0003075976,0.0003298054],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001409879,"about_ca_system_score_gemma":0.00007482702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006229108,"about_ca_topic_score_gemma":0.0009346161,"domain_scores_codex":[0.9996344,0.00005900351,0.00004811888,0.0001387209,0.00006136044,0.00005841256],"domain_scores_gemma":[0.9993688,0.00007337886,0.0003179144,0.00007300806,0.00008773409,0.00007919104],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002471177,0.0000861884,0.7632944,0.0001186617,0.0001701113,0.0006700793,0.0003002435,0.0001315069,0.2202631,0.0000974539,0.0002722499,0.01212475],"study_design_scores_gemma":[0.00001254002,0.0003973137,0.9876801,0.00001799136,0.00004719397,0.001336939,0.0002130422,0.0001634427,0.009609601,0.00009776394,0.0004181779,0.000005934115],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977729,0.000625372,0.0006370025,0.00002553551,0.000006965253,0.00001706561,0.0004131653,0.00001219743,0.0004897761],"genre_scores_gemma":[0.9989814,0.0001107363,0.000329763,0.00003317887,0.00001088401,0.00001336144,0.0002843009,0.00000523576,0.0002311489],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001692604,"threshold_uncertainty_score":0.005662262,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01123169475831771,"score_gpt":0.2298966266778151,"score_spread":0.2186649319194974,"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."}}