PacBio

ASHG 2021 Workshop

  Watch Now On-Demand Session 4: UNCOVERING NEUROLOGICAL DISORDERS THROUGH AN EXAMINATION OF VNTRS

Many neurological diseases result from expansion of unstable variable nucleotide tandem repeats (VNTRs) that influence gene transcription of neighboring genes. Studying these large repetitive regions, however, can be difficult using common sequencing technologies because short 100 bp - 150 bp sequence-reads do not span the entire length of structural variants.

In session 4 of our PacBio ASHG 2021 workshop, Henne Holstege, Ph.D. (Amsterdam University Medical Center) discusses her work with centenarians and long-read sequencing to identify predominantly expressed VNTRs in the brains of patients who have been diagnosed with Alzheimer's.

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.