{"id":"W4290998176","doi":"10.1515/medgen-2022-2127","title":"Molecular mechanisms defining penetrance of<i>LRRK2</i>-associated Parkinson’s disease","year":2022,"lang":"en","type":"article","venue":"Medizinische Genetik","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Peter und Traudl Engelhorn Stiftung; Deutsche Forschungsgemeinschaft; Michael J. Fox Foundation for Parkinson's Research; Joachim Herz Stiftung; Fonds National de la Recherche Luxembourg","keywords":"LRRK2; Penetrance; Disease; Genetics; Biology; Mutation; Parkinson's disease; Parkin; In silico; Bioinformatics; Medicine; Gene; Internal medicine; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002896476,0.0003561226,0.0003344692,0.0006073117,0.0001277017,0.0005462478,0.0002522762,0.0004588961,0.001614455],"category_scores_gemma":[0.0003209099,0.0001311155,0.0004051802,0.0002411036,0.0002745463,0.0003592036,0.0003262053,0.0003620538,0.0003763974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003248781,"about_ca_system_score_gemma":0.0001319838,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006292687,"about_ca_topic_score_gemma":0.0005049603,"domain_scores_codex":[0.9998228,0.00004037534,0.0000196793,0.00005805228,0.00003644784,0.00002267577],"domain_scores_gemma":[0.9997748,0.00003780347,0.0001240047,0.00001004094,0.00003135534,0.00002210915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001160335,0.0001625327,0.11009,0.001462914,0.0004669239,0.005132403,0.000460047,0.0006317731,0.7970972,0.004192902,0.002067315,0.07707566],"study_design_scores_gemma":[0.00005872106,0.0009263178,0.8485044,0.0004968763,0.000456273,0.0143583,0.0005310064,0.001587793,0.1045013,0.006543171,0.02196448,0.00007128793],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9146541,0.0661032,0.008910629,0.00147245,0.0001509799,0.00006231197,0.001561117,0.000186957,0.006898184],"genre_scores_gemma":[0.9824117,0.01317885,0.001590594,0.0002467699,0.00007901671,0.00003440891,0.0006997479,0.00002113338,0.001737761],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001614455,"threshold_uncertainty_score":0.005400896,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01246196106089964,"score_gpt":0.245128487471367,"score_spread":0.2326665264104674,"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."}}