APR 25, 2019 6:00 AM PDT

Long-Read Sequencing and Infectious Disease: New Insights Into Longstanding Challenges

Sponsored by: PacBio
C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Director, Market Strategy for Microbial and Cancer Genomics, Pacific Biosciences
    Biography
      Meredith Ashby is the Director of Market Strategy for Cancer and Microbial Genomics at Pacific Biosciences. She completed her Ph.D. at Caltech mapping the gene regulatory networks that direct sea urchin development just as the sea urchin genome was being sequenced. Inspired by the impact of genome sequencing on her research, she joined PacBio after a brief postdoc at UCSF. She has been with the company since 2009, and has worked in R&D on both sequencing optimization and bioinformatics application development. She is now focused on exploring and facilitating the use of PacBio long read sequencing to solve the unmet needs of scientists studying how the wide range of human genetic variation impacts health and disease.

    Abstract

    To reduce the global burden diseases causes by infectious disease, including parasites and bacteria, scientists need better information about mechanisms of virulence, immune evasion, and drug resistance, as well as new insights into parasite and pathogen vector biology and life cycles.  One of the longstanding challenges in infectious disease has been the lack of high-quality reference genomes.  Parasite genomes in particular have been highly fragmented, as the telomeric regions of their chromosomes are dense with highly homologous genes that cannot be resolved with short read sequencing.  Recent developments in genome sequencing, however, are helping researchers overcome this barrier.  Recently, highly contiguous genome assemblies of Plasmodium falciparum, Aedes aegypti, and multiple trypanosomes have become available.  The number of reference genomes for bacteria that cause infectious disease is similarly expanding rapidly. Join Dr. Ashby as she discusses now these new resources are already yielding new biological insights into critical questions in infectious disease research, including how parasites evade the immune system add how pathogens are adapting to evolutionary pressures.

    Learning Objectives:

    1. Understand how the structure of parasite genomes facilitates immune evasion and rapid adaptation while at the same time creating challenges for high-quality genome assembly.
    2. Discuss how long-read sequencing and high-quality references facilitate the identification of genomic changes linked to selective pressure, either directly or in conjunction with short read data.


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