MAY 08, 2019 1:30 PM PDT

Highly Accurate Long Sequence Reads for Comprehensive Genomic Analysis

Sponsored by: PacBio
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

    Recent improvements in sequencing chemistry and instrument performance combine to create a new PacBio data type of highly accurate (HiFi), long insert reads. Increased read length and improvement in library construction enables average read lengths of 10-20 kb with average sequence identity greater than 99% from raw single molecule reads. The resulting reads have the accuracy comparable to short read NGS but with 50-100 times longer read length. These highly accurate long reads allow for comprehensive variation detection from single nucleotide polymorphism to large structural variation with a single data type at 15- to 30-fold coverage. Using existing variation detection pipelines (e.g. GATK) to call variants and construct phase blocks, we achieve state of the art sensitivity and specificity for small nucleotide polymorphisms while preserving high sensitivity to detect larger structural variation (>50 bp) at single base resolution and delineate haplotype linkages. Additionally, the lack of sequence context bias and the unambiguous mappability of the longer HiFi reads allow a more complete survey of the human genome, expanding the detection of variants outside of the GIAB high confidence regions. We demonstrate the utility of this data type by sequencing to 15- to 30-fold coverage and calling all variants in the well-characterized HG002 genome. In addition to human resequencing analysis, HiFi reads may be used to assemble and call variants in plant or animal genomes, with assembly results rivaling the current long read sequencing approaches. The highly accurate raw data is directly compatible with many existing bioinformatics tools.

    Learning Objectives: 

    1. Understand the generation of HiFi sequence reads, and the uniqueness of this data type among sequencing technologies
    2. Learn about the different use cases uniquely enabled by the new HiFi sequence data type


    Show Resources
    You May Also Like
    MAY 11, 2021 10:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    MAY 11, 2021 10:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    Date: May 11, 2021 Time: 10:00zm PDT Your samples are some of the most valuable assets in the laboratory. After spending countless hours on extraction and preparation, your conclusions could...
    JUN 09, 2021 7:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    JUN 09, 2021 7:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    Date: June 9, 2021 Time: 09 June 2021, 7am PDT, 10am EDT, 4pm CEST cells with dramatic implications on the validity of past cell culture related research. The fact that at least 509 cell lin...
    DEC 02, 2020 8:00 AM PST
    C.E. CREDITS
    DEC 02, 2020 8:00 AM PST
    DATE: December 2nd, 2020 TIME: 08:00am PDT, 11:00pm EDT Bioreactors and shakers are used to cultivate microorganisms, plant, insect, and mammalian cells in different volumes. Upscaling of pr...
    NOV 16, 2020 8:00 AM PST
    C.E. CREDITS
    NOV 16, 2020 8:00 AM PST
    Date: November 16, 2020 Time: 8:00am (PST), 11:00am (EST) CRISPR screening has become the prime discovery tool in modern biomedical research and drug discovery. At the same time, most screen...
    MAR 16, 2021 10:00 AM PDT
    C.E. CREDITS
    MAR 16, 2021 10:00 AM PDT
    Date: March 16, 2021 Time: 10:00am (PST) Scientific progress and breakthroughs today are often too expensive for most institutions to acquire. Each year, the National Institutes of Health (N...
    APR 21, 2021 5:00 PM CEST
    APR 21, 2021 5:00 PM CEST
    Date: April 21, 2021 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Spatial Answers Trilogy - Spatial Answers in Immunology Immunology Researchers share their Spatial Discoveries in SARS-C...
    MAY 08, 2019 1:30 PM PDT

    Highly Accurate Long Sequence Reads for Comprehensive Genomic Analysis

    Sponsored by: PacBio

    Specialty

    Genomics

    Animal Research

    Dna Sequencing

    Molecular Biology

    Immunology

    Biotechnology

    Cell Biology

    Gene Sequencing

    Cancer Diagnostics

    Oncology

    Biomarkers

    Disease

    Cell Culture

    Biology

    Cancer Research

    Geography

    Asia43%

    North America29%

    Europe29%

    Registration Source

    Website Visitors100%

    Job Title

    Student40%

    Medical Doctor/Specialist20%

    Educator/Faculty20%

    Engineer20%

    Organization

    Academic Institution57%

    Biotech Company29%

    Consultant14%


    Show Resources
    Loading Comments...
    Show Resources