Research

A major challenge in human genetics is understanding how noncoding DNA regulates gene expression, which genes are controlled by individual regulatory elements, and how these mechanisms vary across cell types and contribute to human disease.


From Andersson, R., Sandelin, A. Determinants of enhancer and promoter activities of regulatory elements. Nat Rev Genet 21, 71–87 (2020)

Regulation of gene expression underlies virtually every aspect of human biology, and its dysregulation is a major cause of human disease. Genome-wide association studies (GWAS) have identified hundreds of thousands of genetic associations with human diseases and complex traits, the vast majority of which involve noncoding variants that overlap gene regulatory elements, particularly enhancers and promoters. However, connecting these associations to their causal molecular mechanisms remains a major challenge because we still lack a predictive understanding of how the genome encodes regulatory activity, how regulatory elements control their target genes, and how these processes vary across cell types.

Our laboratory develops experimental and computational approaches to address these challenges by integrating regulatory genomics, machine learning, statistical modeling, and molecular biology. Together, these approaches enable us to identify active regulatory elements, understand how they control gene expression, learn the sequence logic of gene regulation, and interpret the functional consequences of noncoding genetic variation.


From Zaugg, J.B., Sahlén, P., Andersson, R. et al. Current challenges in understanding the role of enhancers in disease. Nat Struct Mol Biol 29, 1148–1158 (2022)

Research questions

Our research is driven by four fundamental questions in regulatory genomics:

Which genomic sequences regulate gene expression?

We develop experimental and computational approaches to identify active enhancers and promoters across diverse biological systems.

Which genes do regulatory elements control?

We investigate how distal regulatory elements communicate with their target genes and develop methods to map enhancer–gene interactions across cell types and tissues.

How does the genome encode regulatory activity?

We study how DNA sequence determines regulatory activity, transcription factor cooperativity, and cell-type specificity, enabling predictive models of gene regulation directly from genomic sequence.

How do noncoding genetic variants contribute to disease?

We develop computational frameworks to predict the molecular consequences of regulatory genetic variation and connect human genetic associations to their underlying biological mechanisms.

Selected publications

For a complete publication list, please visit our publications page or Google Scholar profile.