Applications of Third Generation Sequencing in Unsolved Disease

In this talk, Emily G. Farrow, Ph.D., GCG (Children’s Mercy Kansas City) shares her experience using long-read sequencing to identify novel genetic variations as part of the Genomic Answers for Kids study. Dr. Farrow discusses 3 patient cases in which PacBio HiFi sequencing was able to provide answers where other technologies had failed due to challenges in phasing variants, achieving even sequence coverage, and sequencing repetitive regions.

Complete the form to watch Dr. Emily G. Farrow discuss 3 patient cases:

Case #1 - Lysosomal storage disease: Niemann Pick disease type C (NPC)
Case #2 - Lissencephaly ("smooth brain")
Case #3 - Familial adult myoclonic epilepsy-2 (FAME2)

Complete the form to watch Dr. Emily G. Farrow discuss 3 patient cases

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Speaker

Emily G. Farrow, Ph.D., CGC

Director, Laboratory Operations - Genomic Medicine Center, Children’s Mercy Kansas City

Associate Professor of Pediatrics, University of Missouri-Kansas City School of Medicine

Clinical Assistant Professor of Pathology, University of Kansas School of Medicine