{"id":"W4310956953","doi":"10.1093/brain/awac464","title":"Mitochondrial DNA heteroplasmy distinguishes disease manifestation in <i>PINK1</i> / <i>PRKN-</i> linked Parkinson’s disease","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Saskatchewan Health Authority; Toronto Western Hospital; University of Toronto; University of British Columbia","funders":"Canadian Institutes of Health Research; Fonds National de la Recherche Luxembourg; Université du Luxembourg; Newcastle University; Bundesministerium für Bildung und Forschung; GlaxoSmithKline; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung; Peter und Traudl Engelhorn Stiftung; Deutsche Forschungsgemeinschaft; Eli Lilly and Company","keywords":"Heteroplasmy; PINK1; Mitochondrial DNA; Parkin; Mutation; Biology; Genetics; Mitochondrion; Molecular biology; Parkinson's disease; Disease; Gene; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000179239,0.000340134,0.0003654984,0.0002231696,0.0003072452,0.00005312305,0.0001800087,0.00004547317,0.0004242633],"category_scores_gemma":[0.0004165364,0.0003467969,0.0002406424,0.0003626491,0.00005320275,0.0001239129,0.0001733135,0.0002763897,0.00007381141],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003581875,"about_ca_system_score_gemma":0.0003464014,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009614158,"about_ca_topic_score_gemma":0.00005521459,"domain_scores_codex":[0.99731,0.0002594327,0.0004252057,0.0007662132,0.0007137161,0.0005254674],"domain_scores_gemma":[0.9983044,0.0001310033,0.0001517057,0.0005356021,0.00004433138,0.000832934],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.03290881,0.015098,0.779339,0.001228529,0.0006350097,0.05242248,0.00267396,0.001010784,0.01016146,0.003657663,0.06354317,0.03732112],"study_design_scores_gemma":[0.01131413,0.0004341389,0.6176368,0.0001654158,0.0003614469,0.00004881912,0.0003338153,0.002233122,0.0001420621,0.002157867,0.3645463,0.0006260458],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925359,0.0005535479,0.00009578017,0.003198829,0.0009237525,0.001238417,0.0006553617,0.0001885134,0.0006099244],"genre_scores_gemma":[0.992154,0.00002603959,0.0003709497,0.003329897,0.000390106,0.0008530084,0.001172474,0.00007496952,0.001628549],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3010031,"threshold_uncertainty_score":0.9998984,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01539806113263543,"score_gpt":0.2540519830160674,"score_spread":0.2386539218834319,"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."}}