Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies.

ABSTRACT: Localization of causal variants underlying known risk loci is one of the main research challenges following genome-wide association studies. Risk loci are typically dissected through fine-mapping experiments in trans-ethnic cohorts for leveraging the variability in the local genetic structure across populations. More recent works have shown that genomic functional annotations (i.e., localization of tissue-specific regulatory marks) can be integrated for increasing fine-mapping performance within single-population studies. Here, we introduce methods that integrate the strength of association between genotype and phenotype, the variability in the genetic backgrounds across populations, and the genomic map of tissue-specific functional elements to increase trans-ethnic fine-mapping accuracy.

SUBMITTER: Kichaev G 

PROVIDER: S-EPMC4573268 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature