The Frey Lab develops techniques that use large scale datasets to derive predictive models of how genes and many other genomic features act in combination to produce genetic messages that control cellular activities. We have most recently focused on how organisms use alternative splicing to generate a tremendous level of biological complexity that cannot be explained by gene expression alone (Nature, 2010). The group is led by Brendan J. Frey, who has appointments in Engineering and Medicine. If you are interested in joining the group, click here.

Current Research Highlight. Check out articles in Wired Magazine and Scientific American

Splicing code reveals unexpected genetic determinants of autism, cancers and spinal muscular atrophy

- December 18, 2014

Splicing code reveals unexpected genetic determinants of autism, cancers and spinal muscular atrophy

In today's advance, online edition of Science magazine, Frey's team describes a very different computational approach to accurately identifying mutations that may cause disease. The publication authored by team members Hui Xiong, Babak Alipanahi, Leo Lee, Hannes Bretschneider and others describes a computational technique that scores how strongly genetic variants affect RNA splicing, a critical step in gene expression whose disruption contributes to many diseases, including cancers and neurological disorders. A genome-wide analysis reveals tens of thousands of variants that alter splicing and are enriched with a wide range of known diseases, and the results provide insight into the genetic basis of spinal muscular atrophy, hereditary nonpolyposis colorectal cancer and autism spectrum disorder.



Reference

Hui Y. Xiong, Babak Alipanahi, Leo J. Lee, Hannes Bretschneider, Daniele Merico, Ryan K.C. Yuen, Yimin Hua, Serge Gueroussov, Hamed S. Najafabadi, Timothy R. Hughes, Quaid Morris, Yoseph Barash, Adrian R. Krainer, Nebojsa Jojic, Stephen W. Scherer, Benjamin J. Blencowe, Brendan J. Frey*. The human splicing code reveals new insights into the genetic determinants of disease. Science DOI: 10.1126/science.1254806. Published Online December 18 2014. [ Science ] [ SPANR web tool ]