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kircherlab / CADD-scripts

CADD scripts release for offline scoring. For more information about CADD, please visit our website
http://cadd.gs.washington.edu
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Negative value in SpliceAI scores #40

Closed aardes closed 1 year ago

aardes commented 1 year ago

Dear,

I noticed that there are minus signs for some of the SpliceAI scores, specifically in the hg19 data.

I assume this could be a bug, please take a look.

image

regards Amin

aerval commented 1 year ago

Dear Amin,

Thank you for raising this issue. I have checked the examples you have given and tracked it down to the precomputed SpliceAI files that the original authors of SpliceAI have provided. I have not checked the SpliceAI script itself but the spliceailookup from the Broad which returns affected scores as '0'. I am not sure what is the cause but would expect it to be floating point number issue.

We won't fix this at this time as it is more of a 'cosmetic' issue that has no consequence for the score but would make it necessary to update a 33GB annotation file. However, we will be sure to fix this in a future CADD release.

Thank you for your help, Philipp