Genomics

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Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression


ABSTRACT: The aim of this study was to compare the power to detect associations between SNPs using cis-eQTL mapping and ASE analysis (allele specific expression).

PROVIDER: EGAS00000000119 | EGA |

REPOSITORIES: EGA

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A large number of genome-wide association studies have been performed during the past five years to identify associations between SNPs and human complex diseases and traits. The assignment of a functional role for the identified disease-associated SNP is not straight-forward. Genome-wide expression quantitative trait locus (eQTL) analysis is frequently used as the initial step to define a function while allele-specific gene expression (ASE) analysis has not yet gained a wide-spread use in diseas  ...[more]

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