Interpreting genetic variation using large genomic datasets.
At the Karczewski lab at Massachusetts General Hospital and the Broad Institute, our research is focused on assembling and analyzing massive public datasets of genetic variation, and developing novel strategies using these to aid in the interpretation of putative disease variants, in order to better distinguish causal disease variants and improve our understanding of human biology.
Broadly speaking, we are interested in genome sequencing and its future role in our daily lives. With the age of rapidly decreasing sequencing costs, it is not difficult to imagine an age where personal genetic information plays an important role in medicine and daily life. We are constantly discovering more and more of the genetic basis of diseases, but much work has yet to be done in fully explaining the genetic components of disease and other phenotypes.