{"id":"W4311025052","doi":"10.1038/s41467-022-34732-5","title":"Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects","year":2022,"lang":"en","type":"article","venue":"Nature Communications","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":92,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université du Québec à Montréal; Université de Montréal; McGill Genome Centre; Hôpital du Sacré-Cœur de Montréal; McGill University; Canadian Sleep & Circadian Network; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; Medical Research Council; Fonds de Recherche du Québec-Société et Culture; U.S. Department of Health and Human Services; National Institutes of Health; Canada First Research Excellence Fund; Parkinson Canada; Parkinson's UK; Barts Charity; National Institute on Aging; Consortium canadien en neurodégénérescence associée au vieillissement; Wellcome Trust; McGill University; Michael J. Fox Foundation for Parkinson's Research; Foundation for the National Institutes of Health","keywords":"Genome-wide association study; Biology; Neuroscience; Genetic architecture; Polygenic risk score; Synucleinopathies; Genetic association; Sleep (system call); Genetics; Bioinformatics; Medicine; Gene; Single-nucleotide polymorphism; Alpha-synuclein; Phenotype; Genotype; Disease; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000399606,0.0003948708,0.0002450821,0.0008051418,0.0002674792,0.0003463639,0.0002080741,0.0003518897,0.00137464],"category_scores_gemma":[0.0006669216,0.0001517097,0.0004648708,0.0006702454,0.0002072802,0.00009072346,0.0003756561,0.0003478926,0.0001375651],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001128281,"about_ca_system_score_gemma":0.0001441609,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003423241,"about_ca_topic_score_gemma":0.00581014,"domain_scores_codex":[0.9996668,0.000114255,0.00002624027,0.0001225127,0.00003712472,0.00003301978],"domain_scores_gemma":[0.9996367,0.0001149959,0.0001310608,0.00004278213,0.00002257661,0.00005194406],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001078889,0.0001009884,0.9294168,0.00006274286,0.001653948,0.001317243,0.000212161,0.0003791273,0.05141795,0.0003351858,0.0004363394,0.01358858],"study_design_scores_gemma":[0.00001263572,0.00006283041,0.9977247,0.000005654569,0.0001860139,0.0005719604,0.00003882659,0.0003878565,0.000669513,0.000101608,0.0002352103,0.000003210112],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979973,0.0005580352,0.0006511089,0.00007166454,0.00000623565,0.000004295639,0.0003049535,0.00001879191,0.000387549],"genre_scores_gemma":[0.9987829,0.0001897596,0.000493739,0.00002498403,0.000006197772,0.000004421852,0.0002733969,0.000006118548,0.0002184565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003423241,"threshold_uncertainty_score":0.006806612,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009821795830862222,"score_gpt":0.2921582145432849,"score_spread":0.2823364187124227,"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."}}