Advantages of HiFi reads for variant discovery and genome assembly


The PacBio Sequel II System is capable of generating highly accurate, long reads (HiFi reads) that can be used for variant detection and assembly. In this presentation, we demonstrate the utility and provide example workflows for variant detection, and discuss advantages of human HiFi assemblies. Finally, we discuss coverage titrations for these applications, and provide links to publicly available HiFi datasets produced on the Sequel II System.

May 8, 2019 00:00 AM
Leiden University Medical Center, Buruma Hall
Leiden, Netherlands
William J. Rowell
Senior Scientist, Bioinformatics

My research interests include the detection and phasing of small variants in long read sequencing data.