Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.

ABSTRACT: Recent advances in the cost-efficiency of sequencing technologies enabled the combined DNA- and RNA-sequencing of human individuals at the population-scale, making genome-wide investigations of the inter-individual genetic impact on gene expression viable. Employing mRNA-sequencing data from the Geuvadis Project and genome sequencing data from the 1000 Genomes Project we show that the computational analysis of DNA sequences around splice sites and poly-A signals is able to explain several observations in the phenotype data. In contrast to widespread assessments of statistically significant associations between DNA polymorphisms and quantitative traits, we developed a computational tool to pinpoint the molecular mechanisms by which genetic markers drive variation in RNA-processing, catalogu

SUBMITTER: Ferreira PG 

PROVIDER: S-EPMC5019111 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature