Defining Essential Regions of the Human Genome

There is a longstanding interest in identifying the subset of our genome that is the most essential to life and normal development. Quinlan and colleagues studied genetic variation detected among >120,000 human exomes to reveal focal coding regions that lack variation in healthy individuals. Continue reading → Defining Essential Regions of the Human Genome

Research Statement

The research in our laboratory is focused on the application of computational methods to develop a deeper understanding of genetic variation in diverse contexts. Modern experimental methods allow us to examine entire genomes with exquisite detail. Perhaps not surprisingly, staggering complexity is revealed as we look more closely at how genetic variation (both inherited and somatic) contributes to phenotypes. Modern genomic technologies necessitate efficient approaches for exploring, manipulating and comparing large genomic datasets. We develop such methods so that we and others may apply them to experiments investigating the impact of genetic variation on human disease, evolution, and somatic differentiation. Genome research is difficult – we strive to develop computational means that make it easier.