Skip to main content

Our research focuses on the development of statistical methods for uncovering the genetic basis of human disease, and on the population genetics underlying these methods. Areas of interest include functional components of heritability, common vs. rare variant architectures and the impact of negative selection, and disease mapping in structured populations.

Phone 617.432.2262
Location

Building 2, Room 211
Harvard T.H. School of Public Health

Our Focus

Genome-wide associations studies (GWAS) have identified tens of thousands of genetic variants robustly associated to common disease, but in most instances the functional role of those genetic variants is poorly understood. Integrating GWAS with functional data (gene expression, epigenomic data, etc.) in bulk tissue or single cells has immense potential to elucidate genome-wide genetic architectures, pinpoint biological mechanisms at specific GWAS loci, and improve polygenic prediction of disease risk. The development of computationally scalable statistical methods for each of these problem formulations is a pressing challenge.

What We Do

Our Research

Identifying disease-critical tissues, cell types and cell subtypes

Integrating GWAS data with functional data from bulk tissues or single cells can identify disease-critical tissues, cell types, and cell subtypes, informing our understanding of disease etiology.

Leveraging molecular traits to pinpoint causal disease genes

Identifying disease causal genes is more actionable than identifying causal variants. Molecular traits (gene expression, protein levels, etc.) provide a route towards identifying causal genes.

Impact of negative selection on common disease architectures

Negative selection has led to MAF-dependent and LD-dependent architectures and extreme polygenicity. Many aspects of the impact of negative selection on common disease architectures are still emerging

Improving the fine-mapping and polygenic risk prediction in diverse populations

Human populations exhibit small differences in variant allele frequencies but large differences in LD, providing both opportunities and challenges for fine-mapping and polygenic risk prediction.

Lab Photos

Links and Resources

Stay Involved?

Discover more about the PGSG Research Program here.