MAY 11, 2016 10:30 AM PDT

Whole Genome? The Future of High-Quality Genomes & Transcriptomes

  • Chief Scientific Officer, Pacific Biosciences
      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 70 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.


    New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing methods, these de novo genome assemblies capture genomes more completely, and provide resolution of genetic variation of a much larger size and type range, including structural variants and phased allelic variation. Similarly in RNA-seq, full-length mRNA sequencing directly allows for more comprehensive views of transcript isoforms, which are commonly very difficult to reconstruct from splice-junction spanning short reads.

    Learning Objectives:

    • recognize the limitations associated with short-read approaches for high-quality de novo genome assemblies and transcriptome architectures
    • learn about new, long-read sequencing approaches for more complete, reference-free genomes and transcriptomes

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