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Retroduplications and fusion genes in the disease context

Yan Zhang, Ph.D.

Friday, March 23 at 12:30 p.m. in IT 252

Abstract

Genome structural variations (SVs) not only generate genetic diversity but also can cause diseases. Retroduplications are a special type of SVs, which came from the reverse transcription of mRNAs and their insertion back into the genome. They carry several distinctive genomic features relying which we can identify the retroduplications on an individual genome. Retroduplications can result in processed pseudogenes, which are homologous to coding genes but usually do not code protein products due to disabling mutations. A fate of novel retroduplications involved in cancer is the generation of fusion genes when the retroduplication inserts into a coding gene. For example, the UQCRH gene is interrupted in some soft-tissue sarcoma and contains processed pseudogenes in its genomic structure. UQCRH is a novel prognostic factor for hepatocellular carcinoma. In this presentation, I will talk about the tools we developed for retroduplication identification and our studies on inferring the functional impact of novel retroduplications in the disease context.

About Yan Zhange

Dr. Yan Zhang is a Tenure-Track Assistant Professor in the Department of Biomedical Informatics at The Ohio State University. She is also a member of OSUCCC Molecular Biology and Cancer Genetics Program, and serves as faculty member of OSU Biomedical Sciences Graduate Program. Her research interests span computational and statistical methods and their applications to genomic and proteomic research, such as (1) functional and evolutionary impact of structural variations (such as insertions, deletions and retroduplications); (2) association and eQTL analysis; (3) integrative analysis of genomic and proteomic data; (4) statistical modeling of biological networks.

Prior to joining OSU in 2016, Dr. Zhang was a Postdoctoral Associate in Computational Biology and Bioinformatics at Yale University from 2012 – 2016. She received her doctoral degree in Computational Medicine and Bioi​nformatics from the University of Michigan in 2012 and also has an M.A. in Statistics (University of Michigan, 2011), M.S. in Biology (Tsingua University, 2007), and a B.E. in Control Science and Engineering (Tsingua University, 2005).​​​​​​