Description:

The Department of Biochemistry & Molecular Genetics presents:

Karen H Miga, PhD
Associate Professor, Biomolecular Engineering Department, UCSC
Director, UC Santa Cruz Sequencing Technology Center
Associate Director, UC Santa Cruz Genomics Institute
University of California, Santa Cruz

Presentation: 

Centromere Genomics in the Pangenome Era

Abstract:

Centromeric satellite arrays are essential for chromosome stability, yet their architecture and evolution have remained largely unresolved. With complete telomere-to-telomere assemblies now available, we analyzed 470 phased haplotypes from the Human Pangenome Reference Consortium, representing globally diverse, highly accurate genomes. A large fraction of newly resolved sequence lies in constitutive heterochromatin, where suppressed recombination creates megabase-scale linkage disequilibrium. These centromere-spanning haplotypes (cenhaps) encompass satellite arrays, segmental duplications, and genes linked to human traits. Cenhaps preserve deep evolutionary signals, with many lineages coalescing over a million years ago and showing Neanderthal and Denisovan introgression. We developed the first centromeric pangenome data structure to standardize variant calling and enable genetic and epigenetic analyses across these regions. This framework reveals rare recombination, local mutation rates, selection signals, and disease associations within archaic cenhaps. Together, these results establish cenhaps as a powerful system for exploring human genome evolution and diversity.

Host: Dr. Daniel Foltz, Professor, Biochemistry and Molecular Genetics

Refreshments will be served.