You signed in with another tab or window. Reload to refresh your session.You signed out in another tab or window. Reload to refresh your session.You switched accounts on another tab or window. Reload to refresh your session.Dismiss alert
I am struggling to understand if this is a true gain of strength at the native acceptor or if masking is failing in this instance.
I have not yet found a second variant with this issue and have tested at least one other on a different exon without issue. However Pangolin is not showing such a gain.
I think the donor loss score is being masked correctly because the +16bp position is not at an annotated splice site.
The masking behavior of the donor/acceptor gain scores seems inconsistent, the same as in #58
Either both of them should be masked or neither of them. This appears to be a common bug for spliceai gain scores whose positions fall on the last base of an exon. I haven't yet tracked it down in the code.
Hi -
For the variant at 17-41256878-C-T, with or without masking, and with the Max distance >=95, SpliceAI is showing an Acceptor Gain | 0.21 | 95 bp. 95bp is the distance to the nearest native acceptor site: https://grch37.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000012048;r=17:41256878-41256974
I am struggling to understand if this is a true gain of strength at the native acceptor or if masking is failing in this instance.
I have not yet found a second variant with this issue and have tested at least one other on a different exon without issue. However Pangolin is not showing such a gain.
VARIANT: https://spliceailookup.broadinstitute.org/#variant=17-41256878-C-T&hg=37&distance=500&mask=1&ra=0
Mostly highlighting to make sure it is not a systematic issue.
The text was updated successfully, but these errors were encountered: