Abstract
Interpreting functional consequences of millions of non-coding genetic variants in humans is essential to understand the genetic basis of variation in complex traits and phenotypes, such as gene expression. Allele-specific expression (ASE) that integrates allelic frequency in transcription and genotyping information represents the most effective approach to quantify cis-regulatory variants. In this project, we will use publicly available and newly-generated RNA-seq data of human tissue to investigate how cells modify their cis-regulatory machinery to alter gene expression and adapt to different cellular environments (e.g. stress, hormones and metabolites). This will provide valuable insights in functional roles of non-coding genetic variants.
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