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

Date: This event took place on October 13, 2016

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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



  • Dr Tetsuo Ashizawa, Houston Methodist

    Dr Tetsuo Ashizawa, Houston Methodist

    Dr Tetsuo Ashizawa, a graduate of Keio University School of Medicine in Japan, had experienced two Neurology Chairmanships before he became Executive Director of the McKnight Brain Institute at the University of Florida. He has recently moved to Houston to take up his current position as Director of Neurosciences Research Program. He is known for his clinical and laboratory studies on microsatellite instability in human diseases.

  • Dr Melissa Laird Smith, Icahn Institute at Mt. Sinai

    Dr Melissa Laird Smith, Icahn Institute at Mt. Sinai

    Dr. Smith has been studying the dynamics of the pathogen-host relationship for more than 15 years, most recently developing assays that allow for the application  of long read sequencing to questions of viral evolution, pathogenesis and immune repertoire profiling. 

  • Dr Meredith Ashby, PacBio

    Dr Meredith Ashby, PacBio

    Meredith Ashby joined PacBio after completing her PhD at Caltech and a postdoc at UCSF. She worked in R&D on sequencing and bioinformatics projects before joining the Human Biomedical Marketing team, where she develops PacBio long-read solutions for scientists seeking to uncover the missing links between phenotype and genotype.

  • Dr Jayshan Carpen, Springer Nature

    Moderator: Dr Jayshan Carpen, Springer Nature

    Jayshan is a Senior Publishing Manager for Springer Nature and oversees the custom multimedia unit. Previously he ran science events at the Royal Institution of Great Britain. He received his PhD from the University of Surrey, UK in Neurogenetics. His doctoral thesis focused on identifying polymorphisms associated with diurnal preference and circadian sleep disorders.