{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002419102,0.0004863381,0.0007881217,0.004750806,0.000364775,0.001000258,0.0005739409,0.0003176838,0.00166495],"category_scores_gemma":[0.004427533,0.0002457368,0.000993696,0.004748239,0.0002784175,0.0004364773,0.000925038,0.0005154976,0.0003597224],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003186666,"about_ca_system_score_gemma":0.0007738383,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001498574,"about_ca_topic_score_gemma":0.003937939,"domain_scores_codex":[0.9985836,0.0004963274,0.0001354525,0.0004257505,0.0002927463,0.00006615912],"domain_scores_gemma":[0.9975259,0.001428975,0.0004727739,0.0002330669,0.0002062662,0.0001329709],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0007766861,0.0002136598,0.828598,0.0006830224,0.002927248,0.0008926662,0.0003228105,0.00686601,0.07752612,0.001588799,0.001480241,0.07812472],"study_design_scores_gemma":[0.0001177767,0.0003083989,0.9360333,0.0001121347,0.001544566,0.001024264,0.0003499118,0.03339434,0.01105752,0.008363329,0.007635193,0.00005917691],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8643706,0.003040186,0.1153428,0.000846034,0.00003739451,0.0002561472,0.01233578,0.0008277213,0.002943325],"genre_scores_gemma":[0.8974066,0.0007237958,0.08968262,0.000202456,0.00004097369,0.0001971915,0.0111585,0.00008414586,0.0005036349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004750806,"threshold_uncertainty_score":0.0127936,"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."}}