In this talk, Jonas Korlach, PhD, Chief Scientific Officer at PacBio describes how using PacBio HiFi reads, which are greater than 99.9% accurate and up to 25 kb long, led to the detection of structural variants in examples of previously unexplained rare genetic diseases. Genetic diseases affect as much as 10% of the population and over 50% of cases currently remain unexplained. Similarly, Mendelian diseases include over 8,500 described disorders, however at present ~40% have an unknown genetic cause. In addition, he highlights the strength of complete, phased, high-accuracy human WGS for simultaneously yielding high-quality information about any other locus or group of loci, which results in a single genetic assay that encompasses all others.
March 24, 2021 | Presentation