TET2 Cannonical transcript not selected

[cpsosa0006]

https://spliceailookup.broadinstitute.org/#variant=chr4-106162586-G-T&hg=37&distance=50&mask=0&precomputed=0URL (copy-paste the url of a page where you see the issue or have a feature suggestion):

The score is computed selecting Use Illumina's pre-computed scores: yes, result is:

Screenshot (optionally, paste or drag-drop an image here):

However, when selecting

The score is computed selecting Use Illumina's pre-computed scores: no, result is:

and the highest score is the canonical transcript with the highest score but it is not consistent when using yes. Why is the difference?

Thanks,

[cpsosa0006]

Is this team still supporting spliceAI?

[bw2]

Hi @cpsosa0006 , the Illumina pre-computed scores are based on gencode v26, while the other scores are based on gencode v42 - so that's the likely reason.

[bw2]

I'm not part of the SpliceAI team. I just made this web server to look up or compute SpliceAI scores developed @ Illumina.