follow up of issue #67, #69 (Issue #84) When you enter your variant, do you see the warning described in #69<https://scanmail.trustwave.com/?c=8248&d=5amu5x0g0Nwbp0YJaeiY4i5EXwOHmP9APw-JkuoiOA&u=https%3a%2f%2fgithub%2ecom%2fbroadinstitute%2fSpliceAI-lookup%2fissues%2f69> ?
https://spliceailookup.broadinstitute.org/#variant=6-31740453-G-T&hg=38&distance=500&mask=0&ra=0 bw2 closed this as completed Jun 19, 2024 Author SophieCandille commented Jun 19, 2024 Thank you very much for your diligence. Sign up for free to join this conversation on GitHub. Alread...
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 ...
https://spliceailookup.broadinstitute.org/#variant=NM_006767%3Ac.1354A%3EG&hg=38&distance=500&mask=1&ra=1 only the acceptor loss score is masked (ie. the delta score column shows 0 even though REF score - Alt Score is not 0)