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05-04-2010, 04:47 AM
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#1 |
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Senior Member
Location: Graz, Austria Join Date: Feb 2010
Posts: 219
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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 |
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05-04-2010, 06:15 AM
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#2 |
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Senior Member
Location: USA Join Date: Apr 2009
Posts: 482
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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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