Targeted sequencing

ulz_peter

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Join Date: Feb 2010

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#1

Targeted sequencing

05-04-2010, 03:47 AM

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
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NextGenSeq

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Join Date: Apr 2009

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#2

05-04-2010, 05:15 AM

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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