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SciLifeLab The Svedberg seminar series 2013-12-16

Panos Deloukas

Wellcome Trust Sanger Institute, Cambridge, UK

“From GWAS signals to function”


Genome-wide association studies (GWASs) have identified a large number of genomic regions associated with quantitative traits and disease. A major challenge in GWASs is to identify the functional sequence variants, relevant cell types, and biological mechanisms underlying these associations. I will discuss how integrating genetic data with transcriptomic, DNA methylation and open chromatin maps has assisted our efforts to functionally annotate haematological and cardiometabolic loci and provide evidence that similar approaches can be applied to rare disease phenotypes.

 Host: Claes Wadelius

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