{"id":"W2996732250","doi":"10.3389/fneur.2019.01284","title":"The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci","year":2019,"lang":"en","type":"article","venue":"Frontiers in Neurology","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Bundesministerium für Bildung und Forschung; Joachim Herz Stiftung; Alexander von Humboldt-Stiftung; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung; Teva Pharmaceutical Industries; Deutsche Forschungsgemeinschaft; Eli Lilly and Company","keywords":"Genome-wide association study; Exome sequencing; Genetics; Exome; Genetic association; Biology; Cohort; Disease; Genotyping; Genomics; LRRK2; Medicine; Bioinformatics; Gene; Single-nucleotide polymorphism; Genotype; Mutation; Genome; 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":[0.003206016,0.0006063398,0.0007986683,0.001549184,0.0007252148,0.001170301,0.0007103241,0.0008212841,0.003303033],"category_scores_gemma":[0.008104238,0.0003200504,0.001142606,0.002160345,0.000735125,0.0003581053,0.0007675458,0.0006717498,0.000310742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002252342,"about_ca_system_score_gemma":0.0003603421,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002928159,"about_ca_topic_score_gemma":0.003410163,"domain_scores_codex":[0.9968334,0.0008693568,0.0003904673,0.0011909,0.0004852965,0.0002305874],"domain_scores_gemma":[0.9930202,0.003916748,0.001722184,0.0006419278,0.0003522238,0.0003467997],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00100986,0.00002925633,0.9687346,0.0002583895,0.00330139,0.002362224,0.0002919191,0.0009214089,0.007728327,0.0008436629,0.0009354541,0.01358355],"study_design_scores_gemma":[0.0001126921,0.0002033817,0.9850687,0.0001115255,0.001857355,0.004649699,0.000134353,0.001988464,0.001483228,0.002089228,0.002272401,0.00002903699],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9853663,0.005670421,0.00478917,0.0005938408,0.0001287466,0.00002150517,0.00188315,0.0001333067,0.001413415],"genre_scores_gemma":[0.9976591,0.0004176869,0.000935328,0.0001184716,0.00005299022,0.00001165003,0.0006221065,0.00002534886,0.0001573434],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003303033,"threshold_uncertainty_score":0.01695526,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006592177164466437,"score_gpt":0.2228182016533482,"score_spread":0.2162260244888817,"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."}}