Latest Applications of PacBio Sequencing for Clinical Research

Resolving the genetics of underlying Mendelian diseases as well as host immune responses to infectious diseases is an important prerequisite for understanding their biology and for ultimate treatment options. A number of affected genomic loci are difficult to fully characterize due to underlying sequence complexities. The introduction of long and accurate, single-molecule (HiFi) sequence reads by PacBio has allowed for an improved resolution of many of these genomic regions, resulting in highly accurate, full-length gene sequencing with allelic phasing. The associated workflows are efficient and allow for cost effective scaling to large sample volumes. I will highlight several examples of recent advances in clinical research applications, with a particular emphasis on COVID-19 host response relevant targets, including HLA typing, pharmacogenetics, B Cell repertoire sequencing and resolution of the IGH locus.

Learning Objectives:

1. Become familiar with HiFi sequence reads which are both long and accurate at the individual sequence read level

2. Learn about the benefits of full-length, phased gene sequencing with efficient and cost effective workflows allowing for large numbers of samples

3. Learn about improved resolution of previously difficult to resolve clinical research genomic targets, with a particular emphasis on COVID-19 research related loci