PacBio

ASHG 2021 Workshop

  Watch Now On-Demand Session 2: Integrated Rare Disease Genomics using Long-Read Genome Sequencing

Genomic variation — including single nucleotide variants (SNV), structural variation (SV), copy number variants (CNV), and repeat expansions — plays a significant role in rare disease. However, current technologies require multiple tests to fully access these variants, resulting in complex testing algorithms and the potential for missed diagnoses. Long-read genome sequencing offers the ability to accurately detect SNV, CNV, SV, and expansions with a single test.

In session 2 of our PacBio ASHG 2021 workshop, Emily G. Farrow, Ph.D., CGC (Children's Mercy Kansas City) highlights the integrated analyses offered by HiFi sequencing, using case examples demonstrating the potential for a unified test.

Registering on this page grants you access to all four speaker sessions, which will air sequentially from 10:00–11:20 am PDT. You may choose to join us for the entire workshop, or simply drop in to the session(s) that interest you most.

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WORKSHOP SPEAKERS

Session 1: HiFi Sequencing: See What You’ve Been Missing Jennifer Stone, Ph.D., Vice President, Segment Marketing, PacBio
Session 2: Integrated Rare Disease Genomics Using Long-Read Genome Sequencing Emily G. Farrow, Ph.D., CGC, Director, Laboratory Operations - Genomic Medicine Center, Children’s Mercy Kansas City
Session 3: Scalable RNA Isoform Sequencing using Intramolecular Multiplexed cDNAs Aziz Al’Khafaji, Ph.D., Postdoctoral Associate, Broad Institute
Session 4: Uncovering Neurological Disorders Through an Examination of VNTRs Henne Holstege, Ph.D., Assistant Professor, Amsterdam University Medical Center
Complete the registration form above to begin watching the workshop.