Using gene expression data to interpret variation

using gene expression data for variant interpretation

We use transcriptome sequencing (RNA-seq) approaches to better characterize the impact of DNA sequence variants on human gene function. As part of the GTEx Project we are exploring the impact of rare genetic variants on gene expression and splicing in the general population, as well as the biological mechanisms behind X chromosome inactivation in females. We also leverage RNA-seq from patient tissue to improve discovery of disease-causing mutations in rare diseases.