{"id":"W4281384817","doi":"10.1101/2022.05.17.22275087","title":"Mitochondrial DNA heteroplasmy distinguishes disease manifestation in <i>PINK1</i> - and <i>PRKN</i> -linked Parkinson’s disease","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":0,"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":"Bundesministerium für Bildung und Forschung; Fonds National de la Recherche Luxembourg; Deutsche Forschungsgemeinschaft; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung; Eli Lilly and Company","keywords":"Heteroplasmy; PINK1; Parkin; Mitochondrial DNA; Genetics; Mutation; Biology; Disease; Mitochondrion; Parkinson's disease; Gene; Medicine; Internal medicine","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":[0.0003121176,0.0002153909,0.0002474376,0.000790584,0.0002220284,0.0004518743,0.0001222913,0.0002641477,0.001768982],"category_scores_gemma":[0.0005616864,0.0001224225,0.0001488629,0.0002651542,0.0002285302,0.0002389485,0.0004379427,0.0002380407,0.0002721302],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001027988,"about_ca_system_score_gemma":0.0000421438,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006409431,"about_ca_topic_score_gemma":0.0009023469,"domain_scores_codex":[0.9998306,0.00002241518,0.0000252761,0.00007207836,0.00002987208,0.00001966175],"domain_scores_gemma":[0.9996301,0.00006915972,0.0001582009,0.00002490174,0.00004836716,0.00006916545],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001735825,0.00005715659,0.9078741,0.00005259615,0.0001227184,0.0003656838,0.0002506491,0.00009111691,0.08169197,0.00005029214,0.0001052463,0.007602638],"study_design_scores_gemma":[0.000006841084,0.0002111703,0.9954066,0.00000699139,0.00003451416,0.0009885388,0.0001151399,0.0002953866,0.00272763,0.00005823467,0.0001458883,0.000003203784],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992511,0.0002236361,0.000204353,0.000005726163,0.000002167111,0.000005276044,0.00008048571,0.000006531805,0.0002207168],"genre_scores_gemma":[0.9996234,0.00005170002,0.0001092107,0.000004400624,0.000001793553,0.000002890396,0.0001019685,0.000002104812,0.0001025202],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001768982,"threshold_uncertainty_score":0.005917788,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02147627753626714,"score_gpt":0.2707735101463931,"score_spread":0.2492972326101259,"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."}}