Complex Structural Variation in a Complete Human Genome with Evan Eichler, PhD, Principal Investigator and Professor of Genome Sciences in the Eichler Lab at the University of Washington – Genome Sciences.

The complete resolution of genetic variation is critical to understanding the mutational processes underlying both disease and evolution. Dr. Eichler will present his lab’s most recent work sequencing diverse human and non-human apes using both ultra-long Oxford nanopore technology and high-fidelity PacBio long-read sequencing technologies to fully phase and assemble diploid genomes with & without parental data. He will summarize their findings into more complex patterns of structural variation and the new biological insights they reveal.