Our laboratory focuses on the study of somatic mutations that cause changes to the transcriptome, particularly through mRNA splicing. We aim to gain a better understanding of how alternative splicing is regulated and the functional consequences of splicing dysregulation through the study of these cancer genome alterations. We are developing computational approaches to analyze genome and transcriptome sequencing data and developing high-throughput experimental approaches to characterize the functional impact of cancer variants.
Much of our work has been in collaboration with large national and international consortia including modENCODE, The Cancer Genome Atlas (TCGA), and the International Cancer Genome Consortium (ICGC).
eVIP: Expression-based variant impact phenotyping