APR 23, 2020 6:00 AM PDT

Latest Applications of PacBio Sequencing for Clinical Research

Sponsored by: PacBio


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