Speaker: Ekta Khurana, Yale University
Title: Integrative computational models for functional interpretation of human genomic sequence variants
The decreasing cost of sequencing is 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. For cancer genomes, an understanding of the functional impact of mutations can help identification of drivers that lead to tumorigenesis.A large proportion of genomic variants are noncoding and their interpretation is especially challenging. In my talk, I will present integrative computational models to understand the global system-wide effects of mutations. These models combine population-scale sequencing data (from 1000 Genomes consortium), noncoding functional annotations (from ENCODE consortium) and gene interactions from biological networks (including protein-protein, regulatory and metabolic interactions). I will discuss how contrasting patterns of natural polymorphisms and somatic variants can lead to identification of cancer driver mutations.Finally, I will discuss computational tools that I have developed to prioritize variants (both coding and noncoding) in disease studies.
Dr. Ekta Khurana is an Associate Research Scientist in the Program of Computational Biology and Bioinformatics at Yale University. She received her Ph.D. from University of Pennsylvania in 2008. Her current research focus is building computational models to understand the functional impact of human genomic sequence variants. She has been an active member of the ENCODE and the 1000 Genomes consortia. In particular, she coordinated the activities of the ‘Functional Interpretation Group’ -- a team consisting of ~ 50 participants -- within the larger 1000 Genomes consortium. Dr. Khurana has authored 25 papers, including 11 as first/co-first author. She was featured as a promising young investigator of 2013 by GenomeWeb (an influential genomics magazine).