Understanding how genotype (variation in DNA) relates to phenotype (observed charactereistics of an individual) is at the foundation of modern biomedical science. Genome-wide association studies and quantitative trait locus (QTL) mapping have been successful in linking genetic variation to phenotypes of interest, for example disease status or gene expression in specific tissues and cell types.
However, QTL mapping has primarily been limited to a single modality (e.g., gene expression) per study. We have single-cell resolution gene expression (RNA-seq) and chromatin accessibility (ATAC-seq) data from the same lung cells for 200 individuals with and without pulmonary fibrosis. This project will be the first to jointly map gene expression and chromatin accessibility QTLs in a solid human tissue, applying new methodological approaches at scale.
Supervised by
