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  • Targeted sequencing

    Hi,

    we are planning to do targeted resequencing for genetic diagnostics in our laboratory using the FLX instrument with titanium chemistry.
    I now wonder if I should align the results (we do not have results yet, only theory) against the whole human genome or if it's enough to align against the targeted genes?
    Peter

  • #2
    We usually align against the genome since with Agilent whole exome sequence selection you get ~100 bp of flanking intron sequence. You can detect mutations affecting splicing by including the intron sequence in your alignment.

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