A new standard in repeat expansion detection & resolution of segmental duplications with HiFi reads

PacBio is changing the game of genomics with scalable and affordable, highly accurate long-reads from the Revio system. PacBio HiFi reads robustly detect the full spectrum of variation, moving beyond the limitations of other genomics technologies. In this workshop, speakers will share how HiFi sequencing can be applied to solve important clinical research problems such as fully resolving genes that lie within segmental duplications like SMN1/2 and detecting full-length repeat expansions.