DR-376 Clinical and Functional Interpretation of Whole Genome Sequencing

This project will examine how whole genome sequencing (WGS) may improve the diagnosis and treatment of cancer.  First, we will look at patterns of rearrangements and copy number changes to see if these tell us whether a tumor is unable to repair its DNA well.  Second, we will identify genetic changes that drive cancer without changing protein sequence.  Third, we will use mutation patterns across cancer genomes to find out which normal cell in the body a cancer grew out of.  Fourth, we will look at the complicated ways in which cancer genes are copied and rearranged, and whether these patterns tell us how well cancers resist treatment.

Marcin Imielinski, New York University Grossman School of Medicine, United States of America