{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002073204,0.0002196859,0.0002850884,0.0008235356,0.0002014562,0.0003829423,0.0001281088,0.0002346317,0.001476208],"category_scores_gemma":[0.0005515124,0.0001498147,0.0001285355,0.0002847473,0.0002368409,0.0002172969,0.0003486559,0.0001850235,0.0002193111],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001035228,"about_ca_system_score_gemma":0.00004854559,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007258581,"about_ca_topic_score_gemma":0.001086939,"domain_scores_codex":[0.9998145,0.00001960885,0.00002707087,0.00008682528,0.00003009018,0.00002204947],"domain_scores_gemma":[0.9996852,0.00004461948,0.000150704,0.00002527411,0.00003116689,0.00006294984],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001926283,0.00005175987,0.8777305,0.0000393099,0.0001189572,0.0006409177,0.0003668808,0.00009852516,0.1114033,0.00006681906,0.00008277398,0.007474085],"study_design_scores_gemma":[0.000007586746,0.0001965273,0.995517,0.00000482025,0.00003409593,0.001517109,0.00009669753,0.0001609223,0.002298863,0.00004951777,0.0001137384,0.000003288113],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996183,0.0001104899,0.0000812803,0.000003628463,7.036076e-7,0.000002622887,0.00004823126,0.000003176928,0.0001316105],"genre_scores_gemma":[0.9997244,0.00004493383,0.00005773817,0.000004075568,0.000001608933,0.000001914729,0.00009111277,0.000001865632,0.00007227217],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001476208,"threshold_uncertainty_score":0.004938364,"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."}}