{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001444174,0.0001422439,0.0003408652,0.0001687105,0.00003476468,0.000006350499,0.0001471452,0.00008983642,0.00004217447],"category_scores_gemma":[0.00007831983,0.0001096655,0.00007555323,0.0001929693,0.00006868942,0.00004744019,0.0000598347,0.000204173,0.00001942102],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000391243,"about_ca_system_score_gemma":0.00009437987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003568037,"about_ca_topic_score_gemma":0.00001526504,"domain_scores_codex":[0.9987839,0.0001380236,0.0002383924,0.000330801,0.0001601015,0.0003487674],"domain_scores_gemma":[0.99932,0.00006339944,0.00008861413,0.0003738597,0.00002118525,0.0001329297],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002012579,0.0002238005,0.990128,0.0000277621,0.00004174062,0.0004637687,0.00007265236,0.00003959351,0.0001975522,0.0005705614,0.0006135318,0.005608446],"study_design_scores_gemma":[0.003231596,0.0002889821,0.9167916,0.00003025908,0.00005140401,0.00001151173,0.00008661945,0.004885347,0.0001850305,0.005481424,0.06886132,0.00009493198],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934133,0.002948461,0.00007166978,0.0008725199,0.0007650326,0.0005504607,0.00002307021,0.00001752265,0.001337987],"genre_scores_gemma":[0.9986461,0.0003896296,0.0001947356,0.0004996806,0.00003031794,0.00004120839,0.00001677747,0.00002055083,0.0001610292],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07333643,"threshold_uncertainty_score":0.4472028,"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."}}