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APR 23, 2020 6:00 AM PDT

Latest Applications of PacBio Sequencing for Clinical Research

Sponsored by: PacBio
C.E. Credits: P.A.C.E. CE Florida CE
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

    Resolving the genetics of underlying Mendelian diseases as well as host immune responses to infectious diseases is an important prerequisite for understanding their biology and for ultimate treatment options. A number of affected genomic loci are difficult to fully characterize due to underlying sequence complexities. The introduction of long and accurate, single-molecule (HiFi) sequence reads by PacBio has allowed for an improved resolution of many of these genomic regions, resulting in highly accurate, full-length gene sequencing with allelic phasing. The associated workflows are efficient and allow for cost effective scaling to large sample volumes. I will highlight several examples of recent advances in clinical research applications, with a particular emphasis on COVID-19 host response relevant targets, including HLA typing, pharmacogenetics, B Cell repertoire sequencing and resolution of the IGH locus.

    Learning Objectives:

    1. Become familiar with HiFi sequence reads which are both long and accurate at the individual sequence read level

    2. Learn about the benefits of full-length, phased gene sequencing with efficient and cost effective workflows allowing for large numbers of samples

    3. Learn about improved resolution of previously difficult to resolve clinical research genomic targets, with a particular emphasis on COVID-19 research related loci


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