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  • !!Urgent help: identifying CNV of an interesting region by targeted sequencing

    Hi all,
    My collaborator is interested in a region (about 8M bp long), that has been reported to susceptible to amplification/deletions.

    Our goal is to perform sequencing experiments to specifically study the copy number variation of this region.

    Whole-exome sequencing of course can help but most of the information will be wasted since our collaborator is not interested in other regions.

    I wonder if we could capture the 8M region plus 3M up-stream and 3M down-stream region and then perform deep sequencing on the total 14M-bp region. Ideally, the up- and down-stream regions have no copy number change while it will be easy to quantify the copy numbers of the middle region.

    I am not sure if the above strategy is feasible. Please help if you have a better idea of detecting copy number variation for a targeted region or if you have any advice for sequencing the above described region.

    THanks a lot!

  • #2
    Probably a MYbaits custom pulldown would be a good way to access the region.
    Providing nextRAD genotyping and PacBio sequencing services. http://snpsaurus.com

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    • #3
      If you want to detect potential large indels in that area, I suggest mapping with BBMap, using the flag "maxindel=200000" (or however long you wish, though bear in mind that higher numbers reduce accuracy).

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