November 19 @ 11:00 am – 12:00 pm
Andrew Stergachis Associate Professor, Department of Molecular and Medical Genetics
University of Washington
“The diploid chromatin epigenome: what’s the difference?”
Advances in long-read sequencing and genome assembly now enable the routine generation of near-complete diploid telomere-to-telomere (T2T) genomes. As the genetic landscape of these diploid T2T genomes comes into focus, the next major challenge is to understand the functional differences between the two haploid genomes that comprise an individual’s diploid genome. I will present recent advances from our team in long-read single-molecule epigenetic mapping that enable resolution of the complete diploid chromatin epigenome at both the single-molecule (Fiber-seq) and single-cell (DAF-seq) levels. Using data generated through the Somatic Mosaicism across Human Tissues (SMaHT) Network, the Human Pangenome Reference Consortium (HPRC), the Undiagnosed Diseases Network (UDN), and the GREGoR Consortium, I will demonstrate how germline genetic variation, somatic epimutations, and stochastic gene regulatory processes shape the diploid chromatin epigenome. Collectively, these studies provide a new framework for measuring and conceptualizing function within the diploid T2T genome.