Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci

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Over the last few years, several approaches for fine-mapping genome-wide association studies (GWAS) loci have been proposed and used to localize potential causal variants. However, the performance of these types of tests is often poorly characterized. In this study, we used extensive simulations to show that statistical fine-mapping can indeed accurately reduce the number of likely causal variants at common GWAS loci. These approaches can be further improved by changes in study design, such as the inclusion of multiple ethnic groups in the study population. Finally, we demonstrate the utility of this type of approach on a recently published genome-wide association study for ankylosing spondylitis, where we could fine-map seven of the twenty-six loci to a number of variants (n = 10) which is tractable for follow-up in a laboratory setting.

Vyšlo v časopise: Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci. PLoS Genet 11(9): e32767. doi:10.1371/journal.pgen.1005535
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005535

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