[ensembl-dev] Incorrect HGVSp start coordinate for certain delins variants

Reece Hart reece at harts.net
Wed May 15 02:31:29 BST 2013


On Tue, May 14, 2013 at 2:29 AM, Sarah Hunt <seh at ebi.ac.uk> wrote:

> Thanks for the detailed bug report. The fix you suggest will not have
> unwanted impact so has been added to CVS for branch 71.
>

Thanks.

For anyone following this, I've run 28268 variants through VEP 2.8+e70 with
the change as described earlier in the thread. The variants included SNVs,
del, ins, and delins on all chromosomes. This generated 264784 HGVSp
results (due to multiple transcripts for many variants). With the change, I
saw the differences that I expected due to repeated start coordinates, and
nothing else.

This change doesn't appear to have any unexpected consequences.

-Reece
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://mail.ensembl.org/pipermail/dev_ensembl.org/attachments/20130514/3fe579d3/attachment.html>


More information about the Dev mailing list