How do noncoding risk variants contribute to complex traits and diseases?
Bing Ren, UC San Diego
Tuesday December 15, 12-1pm
Zoom Link: https:/mcgill.zoom.us/j/91589192037
Abstract: A large number of sequence variants have been linked to complex traits and disease through genome-wide association studies, but deciphering their biological function is still challenging because most of them reside in noncoding DNA, where functional annotation is still lacking. A growing list of studies has shown that noncoding risk variants may contribute to human disease by perturbing the transcriptional regulatory sequences. However, it is still unclear whether this mechanism generally applies to the tens of thousands of risk variants identified to date. Efforts to address this question have been hampered by a lack of maps and tools to explore the transcriptional regulatory sequences in the human genome. Here, I will present our recent progress in the mapping of candidate transcriptional regulatory sequences in the human and mouse genomes with single cell epigenomics tools. I will also discuss the development of highly predictive models for assessing the impact of sequence variants on DNA binding of transcription factors. Finally, I will describe how mapping the long-range chromatin interactions allows us to infer the target genes of noncoding risk variants in common diseases.