Emmanouil Dermitzakis Group
Department of Genetic Medicine and Development - Faculty of Medicine, University of Geneva
Swiss Institute of Bioinformatics (SIB)
Project at a glance
We have a strong interest in population genomics and genetics of complex traits.
We are using various methodologies to understand the role of genetic variation in phenotypic variation.
We also aim to understand what fraction of genetic variation is harbored within functional elements of the human genome, and develop methodologies for their efficient identification.
Our main focus is on genome-wide analysis of gene expression variation and cellular phenotypes and association with nucleotide variation with a focus on disease susceptibility.
We attempt to detect functional genetic variation in regulatory elements and subsequently use regulatory variation and accurately measured gene expression variation to bridge the genotype with disease phenotypes in association studies.
Gene expression variation is interrogated either by deep mRNA sequencing using 2nd generation sequencing technologies or expression arrays.
We have participated in the ENCODE and HapMap projects and the analysis of sequence and phenotype data of various disease samples and prospective cohorts with deep phenotyping at the cellular and organismal level.
Our group also had a leading role in the HapMap3 projects and we are part of the 1000 Genomes project.