{"id":"W2883257939","doi":"10.1371/journal.pone.0200630","title":"Missing single nucleotide polymorphisms in Genetic Risk Scores: A simulation study","year":2018,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; Université de Montréal; McGill University; Centre Hospitalier de l’Université de Montréal","funders":"Fonds de Recherche du Québec - Santé","keywords":"Single-nucleotide polymorphism; Imputation (statistics); Missing data; Statistical power; Receiver operating characteristic; Sample size determination; Biology; Statistics; Genotype; Proxy (statistics); Genetic association; Genome-wide association study; Genetics; Mathematics; Gene","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":[0.02686827,0.001178638,0.002178308,0.001701565,0.0008404952,0.001772028,0.002631671,0.003222232,0.003464668],"category_scores_gemma":[0.06578523,0.0007959286,0.003530363,0.002531678,0.001652119,0.001988395,0.001761397,0.003814873,0.0003223652],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001828384,"about_ca_system_score_gemma":0.001512066,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01801034,"about_ca_topic_score_gemma":0.01144165,"domain_scores_codex":[0.9912006,0.007263614,0.0002153349,0.0006524284,0.0002593857,0.0004087515],"domain_scores_gemma":[0.7576898,0.2268243,0.004861097,0.005634289,0.00331987,0.001670629],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002319811,0.0008098267,0.04930202,0.0002353911,0.001090278,0.0008806671,0.000402894,0.9228139,0.0004942008,0.01424564,0.001704559,0.005700819],"study_design_scores_gemma":[0.0005380897,0.0004388189,0.004839538,0.00009135933,0.0003275427,0.0001982094,0.000150737,0.9841328,0.0002371388,0.008485874,0.000501118,0.00005879551],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9464337,0.001167667,0.0464627,0.001334888,0.00008220765,0.000284995,0.001640623,0.0001798974,0.002413259],"genre_scores_gemma":[0.9760376,0.0004141255,0.02058627,0.0002488466,0.00003751919,0.0003680621,0.001179261,0.0000421327,0.001086259],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02686827,"threshold_uncertainty_score":0.1420947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04293437389642814,"score_gpt":0.2703007800414142,"score_spread":0.2273664061449861,"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."}}