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  • Target enrichment and CNV analysis

    Is it possible to derive exon-size deletion/duplication information from target-enriched (array or in-solution), paired-end sequencing data ?

    I'm working with a set of genes that frequently undergo partial and whole gene deletion duplications and would be grateful if I could derive this information from the sequencing data without having to also perform high-density CGH of each of the genes.

    Is anyone working on a strategy for this ?

    Thanks much !

  • #2
    How much do you know about the flanking sequences? Add those to the target set & it should be doable if you can recognize the junction sequences from a deleted exon/gene.

    One paper showed finding rearrangements this way.

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