{"id":"W3128690417","doi":"10.1001/jamaneurol.2020.5257","title":"Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets","year":2021,"lang":"en","type":"article","venue":"JAMA Neurology","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":203,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; Medical Research Council; Assistance publique-Hôpitaux de Paris; Landspítali Háskólasjúkrahús; McGill University; Deutsche Forschungsgemeinschaft; Wellcome Trust; University College London; Parkinson's UK; Fondation de France; King Faisal Specialist Hospital and Research Centre; Bundesministerium für Bildung und Forschung; National Institute on Aging; National Institute for Health and Care Research; Multiple System Atrophy Coalition; Agence Nationale de la Recherche; Alzheimer's Society; Canada First Research Excellence Fund; American Parkinson Disease Association; Consortium canadien en neurodégénérescence associée au vieillissement; University of Dundee; Parkinson Vereniging; Michael J. Fox Foundation for Parkinson's Research; U.S. Department of Health and Human Services; National Institutes of Health; Rosetrees Trust; U.S. Department of Defense; EU Joint Programme – Neurodegenerative Disease Research","keywords":"Genome-wide association study; Biology; Genetics; Gene; Candidate gene; Epigenetics; Genetic association; Transcriptome; Computational biology; DNA methylation; Gene expression; Alternative splicing; Single-nucleotide polymorphism; Genotype; Exon","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000248889,0.0001354734,0.0002671222,0.00006032942,0.00008393593,0.00003137481,0.000112923,0.00009186439,0.00003881415],"category_scores_gemma":[0.0008320566,0.0001224484,0.00003104924,0.0001148645,0.00002181032,0.0001035143,0.0001875204,0.0001359118,0.000005757018],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002896175,"about_ca_system_score_gemma":0.0001013692,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000460607,"about_ca_topic_score_gemma":0.00004263463,"domain_scores_codex":[0.9983903,0.0002971364,0.0003430033,0.0005508536,0.0002327641,0.00018599],"domain_scores_gemma":[0.9986402,0.0001763881,0.0002746336,0.0006100382,0.0001271584,0.0001715942],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002470368,0.0006329608,0.9313757,0.00004685522,0.0001100521,0.0002509413,0.0001504957,0.000003729769,0.06268394,0.000002745468,0.000826737,0.003668753],"study_design_scores_gemma":[0.001819075,0.0002091927,0.9784641,0.00001436629,0.0003576987,0.000006622677,0.000089515,0.0007157519,0.009668152,0.0001378456,0.008430202,0.00008748944],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939243,0.002769151,0.000201266,0.002151297,0.0001315052,0.0003565537,0.000424074,0.00002300387,0.00001883209],"genre_scores_gemma":[0.9973432,0.0006593333,0.0000846199,0.0007515982,0.00004731994,0.00004118986,0.000917502,0.00001909461,0.000136167],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05301579,"threshold_uncertainty_score":0.4993299,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01678986735101916,"score_gpt":0.2789765547588552,"score_spread":0.2621866874078361,"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."}}