What do we do?
Our group has a strong interest in population genomics and genetics of complex traits. We use various methodologies to understand the role of genetic variation in phenotypic variation and what fraction of genetic variation is harboured within functional elements of the human genome. Our main focus is on genome-wide analysis of gene expression and cellular phenotypes and their association with nucleotide variation. We attempt to detect functional genetic variation in regulatory elements and then use functional variation and accurately measured gene expression variation to bridge the genotype with disease phenotypes in association studies.
During this past year we have engaged in large-scale analysis of GTEx data, multi-omics cohort data and system genetics analysis, and produced a number of manuscripts that have already been published or are awaiting publication. Our group has also moved more intensively to cancer genomics, with a focus on the contribution of non-coding regulatory DNA to cancer predisposition and progression, with manuscripts on the way.
Main publications 2017
- Ongen H et al. Estimating the causal tissues for complex traits and diseases. Nat Genet. 2017 Dec;49(12):1676-1683. doi: 10.1038/ng.3981.
- Brown AA et al. Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues. Nat Genet. 2017 Dec;49(12):1747-1751. doi: 10.1038/ng.3979.
- Delaneau O et al. A complete tool set for molecular QTL discovery and analysis. Nat Commun. 2017 May 18;8:15452. doi: 10.1038/ncomms15452