MENU
APR 23, 2020 6:00 AM PDT

Latest Applications of PacBio Sequencing for Clinical Research

Sponsored by: PacBio
Speaker

Abstract

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


Show Resources
You May Also Like
JUN 21, 2022 6:00 AM PDT
JUN 21, 2022 6:00 AM PDT
Date: June 21, 2022 Time: 6:00am (PDT), 9:00am (EDT), 3:00pm (CEST) The global understanding and practice of medicine is currently undergoing a revolutionary change. This shift to precision...
OCT 11, 2022 8:00 AM PDT
C.E. CREDITS
OCT 11, 2022 8:00 AM PDT
Date: October 11, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CEST) Multiomic profiling of cell populations at single-cell resolution is revolutionizing scientists’ understanding o...
JUN 28, 2022 7:00 AM PDT
JUN 28, 2022 7:00 AM PDT
Date: June 28, 2022 Time: 3:00pm (BST), 4:00pm (CET), 9:00am (CST), 7am (PST) Light-sheet microscopy is an extremely versatile imaging technique with a vast range of implementations that are...
MAY 17, 2022 9:00 AM PDT
MAY 17, 2022 9:00 AM PDT
Date: May 17, 2022 Time: 9:00am (PDT), 12:00pm (EDT), 8:00pm (CEST) Gene therapeutics have great potential to treat many severe diseases in an unprecedented, targeted manner. The biopharmace...
NOV 01, 2022 10:00 AM PDT
NOV 01, 2022 10:00 AM PDT
Date: November 01, 2022 Time: 10:00am (PDT), 1:00pm (EDT), 6:00pm (CET) Our laboratory developed the Pig-a gene mutation assay as a means to simply and reliably evaluate the potential mutage...
MAR 30, 2022 6:00 AM PDT
MAR 30, 2022 6:00 AM PDT
Targeted NGS has been instrumental in helping the healthcare community deliver on the promise of precision medicine. The Ion Torrent Genexus Integrated Sequencer has enabled targeted genomic...
Loading Comments...
Show Resources