Analysis of transcriptome data – identifying links between gene expression, gene regulation and human disease

The advent of high throughput sequencing technologies has revealed a huge amount of information about the genetic and transcriptional profiles within different tissues, often illustrating unexpected differences. This project will involve the analysis of human RNAseq data to identify RNA editing sites, where there are sequence differences between the genomic DNA and the mature messenger RNA, as well as the identification of areas demonstrating allele-specific expression levels. Transcripts identified in the RNAseq data will also be assessed for the presence of upstream open reading frames (uORFS) which play a role in the regulation of gene expression, with a view to characterising how this is changed in disease. The functional consequences of these changes will be explored further using cell culture models, in vitro reporter gene assays, mass spectrometry and quantitative PCR to assess possible impact in disorders such as Alzheimer’s disease.