Long HiFi Reads for High-Quality Genome Assemblies

The introduction of PacBio HiFi sequence reads, which are both long (up to 25 kb currently) and accurate (>99%) at the individual single-molecule sequence read level, has allowed for advances in de novo genome assemblies. I will briefly review the characteristics of HiFi read data obtained with the Sequel II System, followed by examples of high-quality genome assemblies for human, plant and animal genomes. I will highlight the different aspects of evaluating genome assemblies (contiguity, accuracy, completeness and allelic phasing) and illustrate their high quality by examples of resolving centromeres, telomeres, segmental duplications and other previous difficult to resolve regions. I will also present on advances with regard to reducing the DNA input requirements (down to 5 ng for some of the presented examples) to allow for the sequencing of single individuals of small organisms, and summarize the latest advances in using full-length RNA seq (Iso-Seq) for genome annotation.

Learning Objectives:

1. Understand the characteristics of HiFi sequence reads

2. Understand the latest advances in de novo genome assemblies using HiFi read data for high-quality (contiguous, accurate and complete) human, plant and animal assemblies

3. Learn about advances in reducing the DNA input requirements for sequencing single individuals of small organisms