1. A functional strategy to characterize expression Quantitative Trait Loci.
- Author
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Grassi, Elena, Mariella, Elisa, Forneris, Mattia, Marotta, Federico, Catapano, Marika, Molineris, Ivan, and Provero, Paolo
- Subjects
GENOMES ,SINGLE nucleotide polymorphisms ,HUMAN genetic variation ,GENETIC disorders ,GENETIC regulation ,BIOINFORMATICS ,COMPUTATIONAL biology - Abstract
The study of genetic variation has been revolutionized by the advent of high-throughput technologies able to determine the complete genomic sequence of thousands of individuals. Understanding the functional relevance of variants is, however, still a difficult task, especially when focusing on non-coding variants. Most of the variants associated with disease by Genome-Wide Association Studies (GWAS) are indeed non-coding, and presumably exert their effects by altering gene regulation. Expression Quantitative Trait Loci (eQTL) studies represent an important step in understanding the functional relevance of regulatory variants. We propose a new strategy to detect and characterize eQTLs, based on the effect of variants on the Total Binding Affinity (TBA) profiles of regulatory regions. Using a large dataset of coupled genome and expression data, we show that TBA-based inference allows the identification of eQTLs not revealed by traditional methods and helps in their interpretation in terms of altered transcription factor binding. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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