Dr. Khurana's research focus is to understand the role of genomic and epigenomic variation in disease, in particular cancer. The decreasing costs of genome sequencing are leading to a growing repertoire of personal genomes. However, we are lagging behind in understanding the functional consequences of the millions of variants obtained from sequencing. This is also the case for somatic variants in cancer. An average cancer genome contains thousands of somatic variants - but the functional implications of these variants on cancer progression and growth are not clear. We develop integrative computational models to understand the relationship between genomic sequence variation and disease.

The impact of sequence variants in non-protein-coding regions of the genome is especially less well-understood. These regions play a crucial role in regulating the expression of genes, but it is extremely challenging to predict the impact of sequence variation in these regions. In the NCI-funded project, we are developing novel computational methods to identify non-coding cancer drivers in promoters, enhancers and CTCF insulators. Overall, this proposal addresses the critical need to identify drivers in the non-coding genome and, over the long term, to enable the maximal benefit of genome sequencing for each patient.