Research
My work sits where cellular genomics, human genetics and drug discovery meet. Papers are grouped by theme below; see Publications for the full list by year.
TenK10K: genetics of immune cells at scale
Matched whole-genome, single-cell RNA sequencing and single-cell ATAC sequencing from nearly 2,000 individuals, mapping how common, rare and repeat variants shape gene expression and chromatin accessibility across immune cell types.
- Rare and common genetic variants shape single-cell immune gene expression
- Tandem repeat variation shapes immune cell type-specific gene expression
- Genetic variants shape single-cell chromatin accessibility and disease risk
- Single-cell genetics identifies cell-type-specific effector genes across complex traits and diseases
Statistical methods for single-cell eQTL mapping
Models, software and best practices to map genetic effects on gene expression directly from single-cell data, including effects that change with cell type, state or context.
- Scalable context-dependent single-cell eQTL mapping reveals disease-relevant regulatory variation beyond static models
- Efficient and accurate mixed model association tool for single-cell eQTL analysis
- CellRegMap: a statistical framework for mapping context-specific regulatory variants using scRNA-seq
- Optimizing expression quantitative trait locus mapping workflows for single-cell studies
Genetics of cell differentiation
Population-scale single-cell studies of iPS cells as they differentiate, revealing genetic effects that appear only at particular stages of development and markers of differentiation capacity.
Reviews and perspectives
Overviews of where single-cell genomics and human genetics meet, and where the field is heading.
Other collaborations
Consortium and collaborative work beyond my core projects.
- Genetic variants associated with cell-type-specific intra-individual gene expression variability reveal mechanisms of genome regulation
- Sex-specific clinical and genetic factors associated with adverse outcomes in hypertrophic cardiomyopathy
- Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics
* joint first authors · # corresponding authors