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An Isaac Newton Institute Workshop

Recent Advances in Statistical Genetics and Bioinformatics

Inference of cis and trans regulatory variation in the human genome.

12th December 2006

Author: Emmanouil Dermitzakis (Wellcome Trust Sanger Institute)


The recent comparative analysis of the human genome has revealed a large number of conserved non-coding sequences in mammalian genomes. However, our understanding of the function of non-coding DNA is very limited. In this talk I will present recent analysis in my group and collaborators that aims at the identification of functionally variable regulatory regions in the human genome by correlating SNPs and copy number variants with gene expression data. I will also be presenting some analysis on inference of trans regulatory interactions and evolutionary consequences of gene expression variation.