Description:

Xin He, Ph.D.
Assistant Professor
Department of Human Genetics
University of Chicago

Abstract:
GWAS of neuropsychiatric diseases have identified many loci, however,  causal variants often remain unknown. We performed ATAC-seq in human iPSC-derived neurons, and identified thousands of variants affecting chromatin accessibility. Scuh variants are highly enriched with risk variants of a range of brain disorders. We computationally fine-mapped causal variants and experimentally tested their activities using CRISPRi followed by single cell RNA-seq. Our work provides a frameowork for priortizing noncoding disease variants. 

I will also describe a novel computational method to identify cancer driver genes. Our method provides a comprehensive model of how natural selection shape the mutational pattern of cancer genes. Applying it to TCGA, we identified 159 new potential driver genes. We experimentally validated mRNA methyltransferase METTL3 as a tumor suppressor gene.