Genome-wide studies of variation and transcription

The focus of our research is to understand the role of genomic variation in human disease and evolution

After the completion of the Human Genome Project and the creation of a human genome consensus sequence, it was estimated that human genomes were on average 99.9% identical. Over the last few years this view has slowly been changing. The introduction of novel microarray and sequencing based technologies has led to the identification of large amounts of structural genetic variation; copy number variants (CNVs), insertions, deletions and inversions. The maps of this variation in the human genome are still incomplete, and the influence that structural variation has on gene expression, human disease and genome evolution are still relatively uncharacterized.

In my lab, we are using a combination of modern whole genome experimental strategies, bioinformatics and molecular biology techniques to study the variation in the human genome.
We are running project funded by SciLifeLab Uppsala to characterize genetic variation in twins who are concordant and discordant for specific disorders. We also have an active collaboration with the clinical genetics unit, focusing on the genetics of complex genetic disorders, including Tourette Syndrome, mental retardation and schizophrenia. By using sequencing and array technologies, we are hoping to be able to characterize all the coding and structural genetic variation present in these patients, and identify specific variants that lead to increased risk for disease susceptibility.

Another project in the lab is focused on evolutionary aspects of structural genetic variation. We are characterizing genetic variation and gene expression in human and primate genomes. The long term goal is to identify genetic differences that are important for speciation and human specific traits.