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Laboratory of Translational Genomics - Amundadottir

Laufey Amundadottir

6 Collaborator(s)

Funding source

National Cancer Institute (NIH)
Major advances have occurred in the last few years in our understanding of the genetics of cancer. Genome wide association studies (GWAS) in large cohort or case-control studies have led to the discovery of new regions within the human genome that alter an individual’s risk of developing cancer. My lab focuses on elucidating the functional roles of newly discovered cancer-associated genetic variants. Our work in the laboratory involves association analyses of large datasets, deep sequencing of candidate regions for fine-mapping, genome-wide and targeted gene expression profiling, gene regulation and epigenetics; and data analysis using current bioinformatics and statistical approaches. PanScan is a GWAS of pancreatic cancer conducted within the framework of the NCI-sponsored Cohort Consortium and the Pancreatic Cancer Case Control Consortium (PANC4). The aim of the study is to identify common genetic susceptibility variants for pancreatic cancer. I lead current phases of PanScan (PanScan III) and my laboratory conducts fine-mapping of risk loci identified in PanScan as well as functional studies with the aim of finding the underlying functional variants and understanding the mechanism by which they influence risk of cancer. We use statistical approaches (imputation), genomics (RNA-seq, ChIP-seq, MeDIP-chip) and more focused functional approaches within each risk locus targeting specific genes and molecular phenotypes to connect risk variants to molecular phenotypes that can explain the underlying risk. My lab is also in the process of expanding our studies on the genetics of PSA levels and its relationship to prostate cancer within a GWAS of prostate cancer and related phenotypes using a 2.5 million SNP genotyping platform.

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