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Reveal hidden genetic variation by combining long-read target capture with SMRT Sequencing

While the power of whole human genome sequencing to fuel discovery is unparalleled, for some scientific questions targeted long-read sequencing can provide higher resolution of genetic variation at a lower cost.  Pairing long-fragment target capture with long-read SMRT® Sequencing provides an economical way to sequence candidate genes, full-length gene transcripts or larger genomic regions of interest.  Benefits of a long-read targeted sequencing approach include improved coverage, increased structural variant (SV) discovery, resolution of break-points associated with copy-number variation, and phasing of multi-kilobase fragments to resolve allele haplotypes.

Join us to learn how different targeted-enrichment methods paired with long-read sequencing have uncovered hidden genetic variation in a variety of genetic and genomic disorders.
Tetsuo Ashizawa, Director of the Neuroscience Research Program at Houston Methodist Research Institute, will present a novel amplification-free targeted enrichment method using CRISPR-Cas9 for the disease-causing repeat expansion in SCA10. Using long-read sequencing, he has been able to span multi-kilobase repetitive regions and identify interruption sequence motifs that correlate with alternative clinical phenotypes in individuals from varying ethnic backgrounds.

Melissa Laird Smith from Icahn Institute at Mt. Sinai will review her work studying the genetic background of immune response by characterizing population diversity at the immunoglobulin heavy chain locus.

Meredith Ashby, from PacBio, will present how large-insert targeted sequencing (LITS) provides a more comprehensive picture of structural variation relevant to human disease and genomic disorders, providing insights into possible rearrangement mechanisms in Potocki-Lupski syndrome and revealing subtleties in cancer biology.

During the webcast you will:

  • Hear how clinical research scientists can discover and sequence causative structural variants underlying genetic disease and map breakpoints with base-pair resolution using capture probes and long-read SMRT Sequencing.
  • See how scientists are using highly accurate long reads to explore the full diversity of immune response using cost-competitive methods
  • Discover how previously unsequencable genomic regions can now be accessed at the needed base-level resolution using long-read sequencing

You will also have the opportunity to ask questions of the speakers, live during the broadcast!

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Dr. Tetsuo Ashizawa
Director, Neurosciences Research Program
Houston Methodist Research Institute
View Biography
Dr. Melissa Laird Smith
Assistant Director of Technology Development
Icahn Institute for Genomics and Multiscale Biology, Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai
View Biography
Dr. Meredith Ashby
Senior Staff Scientist
View Biography
Dr. Jayshan Carpen
Nature Research
View Biography

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