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  • 3/8 Webinar: Sequencing SVs for Disease Gene Discovery & Population Genetics

    Join us to learn how human geneticists are adding low-coverage, long-read whole genome sequencing to their study designs to fully power genetic variant discovery and ultimately identify disease-causing variants and genes.

    During this webcast you will learn about:
    • Methods for calling and visualizing structural variants from low-coverage, long-read sequencing of human genomes
    • Optimal study designs to fully power SV detection for gene discovery in rare and Mendelian diseases
    • Cost-effective population genetics study designs for common SV reporting down to < 1% allele frequency
    • Case studies demonstrating genetic discovery in rare Mendelian disease subjects


    Speakers:

    Alexander Hoischen Ph.D., Radboud University Medical Center
    Aaron Wenger Ph.D., Principal Scientist, PacBio

    Watch Recording
    Last edited by pacbio; 03-19-2018, 09:44 AM. Reason: Live webinar has past, now linking to recording

Latest Articles

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  • seqadmin
    Strategies for Sequencing Challenging Samples
    by seqadmin


    Despite advancements in sequencing platforms and related sample preparation technologies, certain sample types continue to present significant challenges that can compromise sequencing results. Pedro Echave, Senior Manager of the Global Business Segment at Revvity, explained that the success of a sequencing experiment ultimately depends on the amount and integrity of the nucleic acid template (RNA or DNA) obtained from a sample. “The better the quality of the nucleic acid isolated...
    03-22-2024, 06:39 AM
  • seqadmin
    Techniques and Challenges in Conservation Genomics
    by seqadmin



    The field of conservation genomics centers on applying genomics technologies in support of conservation efforts and the preservation of biodiversity. This article features interviews with two researchers who showcase their innovative work and highlight the current state and future of conservation genomics.

    Avian Conservation
    Matthew DeSaix, a recent doctoral graduate from Kristen Ruegg’s lab at The University of Colorado, shared that most of his research...
    03-08-2024, 10:41 AM

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