March 1-3, 2021
Did you know that PacBio is the only sequencing technology to offer highly accurate long reads? Because HiFi reads are extremely accurate, downstream analysis is simplified and streamlined, requiring less compute time than the error-prone long reads of other technologies.
Join PacBio at the AGBT 2021 Virtual Meeting to learn about our new Sequel IIe System and the latest in sequencing applications using HiFi reads.
If you want to cut the line and get one-on-one time with one of our staff, sign up for a meeting now by checking the box in the form.
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Date and Time:
Tuesday, March 2, 2021 1:30 – 1:50 p.m. EST
Many genetic disease cases affect as much as 10% of the population with an estimated ~80% having a germline genetic cause, and over 50% of cases currently remain unsolved. Similarly, Mendelian diseases include over 8,500 described disorders, however at present ~40% have an unknown genetic cause.
PacBio HiFi reads are highly accurate (>99.9%) and up to 25kb long. Using the whole-genome HiFi sequencing application to detect structural variants, we describe example cases for previously undiagnosed diseases, spanning a wide variety of underlying causative genetic variation types. In addition, we highlight 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, thereby providing the means for ending the odyssey of prolonged uncertainty and testing for more individuals and their families.
Jonas Korlach, Ph.D.
Chief Scientific Officer
Before we meet at AGBT, learn more about the Sequel IIe System that gives direct access to the only highly accurate long reads: PacBio HiFi reads.