It is currently unknown to what extent protein expression is under genetic control in pediatric brain cancers. Here, we aim to identify cis-acting mechanisms that affect protein expression levels and map trans-acting germline variants that perturb proteinprotein interactions within individual brain cancer types and at pancancer level. We will perform protein quantitative trait locus (pQTL) mapping based on rare and common germline variants (SNVs, indels, SVs) from whole genomes and mass spectrometry-based protein quantifications, integrate this data with cis-eQTLs and somatic alterations (eg, missense mutations, CNAs), and infer transcriptional and post-transcriptional mechanisms that affect protein expression levels and proteinprotein interactions. This cis- and trans-pQTL resource will help to better understand the impact of non-coding and protein-coding genetic variation on somatic evolution, drug response, and clinical outcome.
What are the goals of this project?
We will assess to what extent protein expression levels are under genetic control in pediatric brain cancers.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas
PI: Sebastian M. Waszak
Javad Nazarian, PhD, MSc
I am an investigator at the Center for Genetic Medicine in Children’s National Hospital in Washington, D.C., and an assistant professor in Integrative Systems Biology at the George Washington University. I received my PhD from the George Washington University in Genetics in 2005. My dissertation
Children’s National Hospital
Adam Resnick, PhD
Adam Resnick is the Director of Data Driven Discovery in Biomedicine (D3b) at Children’s Hospital of Philadelphia (CHOP) responsible for leading a multidisciplinary team to build and support a scalable, patient-focused healthcare and educational discovery ecosystem on behalf of all children. He i
Children’s Hospital of Philadelphia