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Fine mapping and accurate prediction of complex traits using Bayesian Variable Selection models applied to biobank-size data.


ABSTRACT: Modern GWAS studies use an enormous sample size and ultra-high density SNP genotypes. These conditions reduce the mapping resolution of marginal association tests-the method most often used in GWAS. Multi-locus Bayesian Variable Selection (BVS) offers a one-stop solution for powerful and precise mapping of risk variants and polygenic risk score (PRS) prediction. We show (with an extensive simulation) that multi-locus BVS methods can achieve high power with a low false discovery rate and a much better mapping resolution than marginal association tests. We demonstrate the performance of BVS for mapping and PRS prediction using data from blood biomarkers from the UK-Biobank (~300,000 samples and ~5.5 million SNPs). The article is accompanied by open-source R-software that implement the methods used in the study and scales to biobank-sized data.

SUBMITTER: de Los Campos G 

PROVIDER: S-EPMC9995454 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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Fine mapping and accurate prediction of complex traits using Bayesian Variable Selection models applied to biobank-size data.

de Los Campos Gustavo G   Grueneberg Alexander A   Funkhouser Scott S   Pérez-Rodríguez Paulino P   Samaddar Anirban A  

European journal of human genetics : EJHG 20220719 3


Modern GWAS studies use an enormous sample size and ultra-high density SNP genotypes. These conditions reduce the mapping resolution of marginal association tests-the method most often used in GWAS. Multi-locus Bayesian Variable Selection (BVS) offers a one-stop solution for powerful and precise mapping of risk variants and polygenic risk score (PRS) prediction. We show (with an extensive simulation) that multi-locus BVS methods can achieve high power with a low false discovery rate and a much b  ...[more]

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