CBS Seminar/ SGGD Conference key note speaker - Evan Eichler

Abstract: The discovery and resolution of genetic variation is critical to understanding disease and disease susceptibility. I will present our most recent work sequencing diverse human genomes telomere-to-telomere (T2T) using both ultra-long and high-fidelity long-read sequencing technologies. The approach allows us to sequence, assemble, and phase all forms of human genetic variation, including complex structural and copy-number variants irrespective of size—the vast majority of which are not routinely characterized by short-read sequencing. Advances in this area have made possible the first T2T assemblies of human genomes, the development of a pangenome reference, and new biological insights into regions typically excluded from human genetic studies. I will highlight how these data are being used to improve short-read genotyping and its potential to characterize complex genetic variation and improve disease associations both directly and indirectly. Assembly-based variant discovery has the potential to provide a complete understanding of human genetic variation at every level and, we predict, will be the future of genetic and clinical-based research.  

Bio: Prof. 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 in the human genome. 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 with a specific emphasis on the genetic architecture of autism and neurodevelopmental delay.