Evan Eichler
Evan Eichler is a Professor of Genome Sciences and Howard Hughes Medical Institute Investigator. He received his Ph.D. from Baylor College of Medicine. After his postdoctoral fellowship at Lawrence Livermore National Laboratory, he joined Case Western Reserve University in 1997 and the University of Washington in 2004. His research group provided the first genome-wide view of segmental duplications within human and primate genomes. He is a leader in identifying and sequencing normal and disease-causing structural variation and applied long-read sequencing to generate the first telomere-to-telomere (T2T) human genome. He is a co-chair and PI of the Human Genome Structural Variation, Human Pangenome Reference, and T2T primate sequencing consortia. The long-term goal of his research is to understand the evolution and mechanisms of recent gene duplication and its relationship to copy number variation and human disease.
Abstract
Long-read sequencing and pangenome perspective of structural variation and disease association.
The discovery and resolution of genetic variation is critical to understanding disease and evolution. I will present our most recent work sequencing diverse human and nonhuman primate (NHP) genomes using both ultra-long and high-fidelity long-read sequencing technologies to fully phase and assemble diploid genomes with & without parental data. This allows us to detect and sequence resolve most structural variants irrespective of size—the vast majority of which are not routinely characterized by short-read sequencing. I will discuss challenges to correctly representing such variation using graph-based approaches, potential solutions based on understanding the evolution and mutational processes underlying such regions, and the development of tools to leverage both graphs and pangenomes to improve disease association.