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VT Normalize skips multi-allelics

Open AlistairNWard opened this issue 8 years ago • 4 comments

I'm running through the demo data set and seeing a SNP with a non-canonical representation. vt normalize should not output this variant, so are we sure it's running?

Also, if there is no annotation (e.g. Sift, PolyPhen) should we write 'no annotation', or something? See how everything is blank in the image?

AlistairNWard avatar Jan 25 '17 20:01 AlistairNWard

screen shot 2017-01-25 at 3 56 15 pm

AlistairNWard avatar Jan 25 '17 20:01 AlistairNWard

I'm looking into this now. Sad!

tonydisera avatar Jan 26 '17 16:01 tonydisera

This is a multi-allelic variant. Doesn't vt normalize ignore these?

I can't find an issue on this problem, so we should probably try to address this in a future release.

screenshot 2017-01-26 09 56 26

tonydisera avatar Jan 26 '17 16:01 tonydisera

DAMN IT!!!!! I've been caught out by this a number of times. It is an issue, but not one we've prioritized. vt doesn't ignore it, but since the multiallelic obviously contains a deletion as well, this is the shortest representation that is consistent with all alleles. If we have a multiallelic, we should probably, as a short term solution (but not this release), include all alleles at the top. I saw this as a SNP, but then the DNA is nuts. If I saw all alleles, it would hopefully stop me making this mistake!

AlistairNWard avatar Jan 26 '17 17:01 AlistairNWard