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Eur J Hum Genet ; 31(3): 313-320, 2023 03.
Article in English | MEDLINE | ID: mdl-35853950

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.


Subject(s)
Biological Specimen Banks , Multifactorial Inheritance , Humans , Bayes Theorem , Software , Computer Simulation , Genome-Wide Association Study/methods , Polymorphism, Single Nucleotide
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