AUG 20, 2014 11:30 AM PDT

More Comprehensive Views of Human Genetic Variation

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

    High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of all variant bases are contained in larger, structural genome changes; this non-SNP DNA variation accounts for ~20-25% of all genetic variation events. These types of variation are more difficult to address with short-read sequencing because of its read length limitations. Structural genomic variation plays important roles in numerous diseases, e.g. many repeat expansion disorders such as fragile X syndrome (the most common heritable form of cognitive impairment), variable number tandem repeat (VNTR) disorders, or structural breakpoints in cancer, to name just a few.
    In my talk, I will highlight how multi-kilobase reads from PacBio sequencing can resolve many of these previously considered 'difficult-to-sequence' genomic regions. The long reads also allow phasing of the sequence information along the maternal and paternal alleles, which I will exemplify by full-length, fully phased HLA class I & II gene sequencing. In addition, characterizing the complex landscape of alternative gene products is currently very difficult with short-read sequencing technologies, and I will describe how long-read, full-length mRNA sequencing can be used to describe the diversity of transcript isoforms, with no assembly required. Lastly, in the exciting area of gene therapy, I will highlight how long PacBio reads can more accurately and efficiently measure outcomes of genome editing studies.


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