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  • #1

    Exome sequencing for genetic diagnosis

    Quite an interesting paper in which Illumina sequencing of whole exome DNA selected on Nimblegen arrays is used to find a gene and mutation responsible for a genetic disease. Apparently the first clinical application of whole exome sequencing!

    Choi et al, PNAS 106, 19096-19101 (Nov. 10, 2009)

    Good reading!
    Bertrand Jordan
    Marseille-Nice Genopole
    Luminy Science Park
    13288 Marseille, FRANCE
    Tags: None
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