Towards Making Identification of Noncoding Causes of Human Disease Routine

Timothy Reddy (Duke University)
https://simons.berkeley.edu/talks/towards-making-identification-noncoding-causes-human-disease-routine
Computational Challenges in Very Large-Scale 'Omics'

Genetic variation outside of protein coding genes is a major driver of human disease. Revealing the underlying mechanisms through which such non-coding variants act has enormous potential to benefit human health. The long-term goal of my research is to make identifying those mechanisms routine through the development and application of new technologies and analyses to study the function of non-coding variants. I will present a combination of case studies that highlight the promise of identifying non-coding genetic contributions to human disease, and new high-throughput technologies that can rapidly advance progress on other diseases in the future.