We develop methods to determine all classes of genetic variants in the genome of a single cell, as well as the RNA molecules the cell transcribes, to enable the exploration of the genetic differences between cells in a person's body and the relation of this diversity to disease.
The nature and pace of genome mutation in normal and diseased cells is largely unknown. Sequencing the DNA of single cells is a powerful method to study genome mutation in cells, right down to each generation of the cell. It will also enable the dissection and comparison of the genetic content of individual cells in normal organs and diseased tissues, providing insights into how fundamental processes of genome maintenance operate, how these processes may be perturbed in disease, and how somatic mutation may cause disease. Furthermore, single-cell genomics will accelerate our understanding of the genetic diversity that develops in a person's cells over time and its relation to phenotypes and disease development.