Increasing Solve Rates for Rare and Mendelian Diseases with
Long-read Sequencing

For Research Use Only. Not for use in diagnostics procedures.
© Copyright 2020 by Pacific Biosciences of California, Inc. All rights reserved. 
1305 O'Brien Rd., Menlo Park, CA 94025   |  Legal & Trademarks

By registering on this web page, you are consenting and agreeing to collection and use of that information by PacBio in accordance with its Privacy Policy.

The current solve rate for rare diseases is <50% for whole exome and genome sequencing using massively parallel short reads. What if you could now map the causative variant for cases that were previously unsolved? Register for our webinar on how long-read sequencing is being incorporated for rare Mendelian diseases and learn about: 

  • Why highly accurate HiFi reads matter in long-read sequencing 
  • What can be detected with HiFi reads that are missed with standard sequencing methods  
  • How long-read sequencing can help increase the solve rates in rare Mendelian disease 
  • How Dr. Kristen Sund from Cincinnati Children's Hospital Medical Center has used long-read sequencing to solve rare neurological diseases involving complex structural rearrangements that were previously unsolved with standard methods 

 

REGISTER NOW
Date: Wednesday, May 27, 2020

Time: 10:00-11:00 a.m. PDT
           1:00-2:00 p.m. EDT
           6:00-7:00 p.m. BST

Aaron Wenger, Ph.D.
Principal Scientist
PacBio

SPEAKERS:

Kristen Sund, Ph.D.
Clinical Fellow, Division of Human Genetics
Cincinnati Children's Hospital Medical Center