OCT 11, 2018 6:00 AM PDT

Revealing the Hidden Landscape of Structural Variants in Cancer Genomes

Speaker
  • Chief Scientific Officer, Pacific Biosciences
    Biography
      Jonas Korlach was appointed Chief Scientific Officer of Pacific Biosciences in July 2012. He was previously a Scientific Fellow, supporting commercial development of the PacBio RS II system and performing research aimed at developing new applications for SMRT technologies. He co-invented the SMRT technology with Stephen Turner, Ph.D., Pacific Biosciences Founder and Chief Technology Officer, when the two were graduate students at Cornell University.

      Dr. Korlach joined Pacific Biosciences as the company's eighth employee in 2004. Previously, he was a Postdoctoral Researcher at Cornell University. Dr. Korlach is the recipient of multiple grants, an inventor on 70 issued U.S. patents and 61 international patents, and an author of over 100 scientific studies on the principles and applications of SMRT technology, including publications in Nature, Science, and PNAS. In 2013, Dr. Korlach was honored by the Obama White House as an Immigrant Innovator "Champion of Change." He received both his Ph.D. and his M.S. degrees in Biochemistry, Molecular and Cell Biology from Cornell, and received M.S. and B.A. degrees in Biological Sciences from Humboldt University in Berlin, Germany.

    Abstract

    PacBio Sequencing simultaneously provides long sequence reads, high consensus accuracy, minimal sequence bias, and methylation detection. I will highlight new advances and updates on applying PacBio sequencing in cancer research, including targeted sequencing, genome-wide structural variant detection and de novo assembly of cancer genomes. Other topics presented will include full-length RNA sequencing (Iso-Seq) for the detection of gene fusions and cancer-related transcript splice isoforms, and how high-accuracy single-molecule consensus reads (through a process called circular consensus sequencing (CCS)), a capability unique to PacBio sequencing technology, can be leveraged for high-resolution, phased minor variant analysis. 

    Learning Objectives: 

    1. Learn about new methods to detect larger-scale genetic variants in cancer genomes
    2. Understand the utility of long-read PacBio sequencing for long-distance phasing of variants
    3. Get familiar with full-length RNA-seq (Iso-Seq) for the detection of gene fusions and cancer-related transcript splice isoforms


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