February 5, 2021  |  Presentation

Virtual Global Summit: Increasing Solve Rates for Rare and Mendelian Diseases with Long-Read Sequencing

In this PacBio Virtual Global Summit 2020 presentation, Jenny Ekholm of PacBio shares how the current solve rate for rare diseases is <50% with whole exome and genome sequencing using massively parallel short reads. But now, you can map the causative variant for cases that were previously unsolved. She explores how how long-read sequencing is being incorporated for rare Mendelian diseases, why high accuracy matters in long-read sequencing, what can be detected with HiFi reads that is missed with standard sequencing methods, and how long-read sequencing can help increase the solve rates for rare and Mendelian diseases.

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