Increasing Solve Rates for Rare and Mendelian Diseases with
For Research Use Only. Not for use in diagnostics procedures.
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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
Aaron Wenger, Ph.D.
Kristen Sund, Ph.D.
Clinical Fellow, Division of Human Genetics
Cincinnati Children's Hospital Medical Center