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 long-read is being incorporated rare mendelian diseases, why high accuracy matters in sequencing, what be detected hifi reads missed standard methods, help increase solve rates diseases.