Thanks John, Pablo,

Updates are of course welcomed in the Tool Shed. Thanks for letting the Galaxy community aware that this may come up during analysis.


Best,

Jen
Galaxy team

On 12/13/11 12:17 PM, John David Osborne wrote:
Hi Pablo,

Correct me if I am wrong, but I believe that SNPEff doesn't check the
inserted sequence when computing the effect of an insertion?

For instance an insertion of TTTA will be reported as a frameshift
mutation. In the majority of cases this is fine, however if the current
reading frame from the ORF annotation is the negative strand and the
correct frame is selected the new codon will be:
TAA T…

The TAA is actually a stop codon, so the real effect of this insert
should be insertion of a STOP CODON, not a frame shift in this instance.
This is minor I know, but I though to report and make people aware.

I am using version 2.02 of SNPEff, but I don't see this fix reported up
to 2.04.

-John




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