In this PacBio User Group Meeting presentation, Mitchell Vollger of the University of Washington used HiFi reads from SMRT Sequencing to study segmental duplications in the human genome. The technique significantly reduced the complexity of accurately mapping these nearly identical sequences throughout the genome; it also reduced the amount of compute power needed compared to a previous PacBio assembly using continuous long reads instead of circular consensus sequencing. Despite generating less data with the HiFi assembly, the team still resolved 30% more segmental duplications with the new approach.
February 5, 2021 | Presentation