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  • Structural variation and implications for PacBio RS?

    Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly.
    Nature Biotechnology 29, 723–730 (2011)


    An interesting paper that is getting some press, although pretty far from my center of expertise. Some things it made me think about:
    1. People will be doing a lot more de-novo assembly the previously thought.
    2. The Pacific Biosciences technology may be more important then previously thought for GWAS.
    3. It's sort of funny how it has gone from Eric Lander and the Human Genome Project saying you couldn't shotgun assemble a human genome from Sanger sequences to the Craig Venter's shotgun assembly to we can do it from Illumina short reads to everybody was wrong and right. Usually the way it goes I guess.
    --------------
    Ethan

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