broadinstitute / SpliceAI-lookup

Website for checking SpliceAI and Pangolin scores:
https://spliceailookup.broadinstitute.org
MIT License
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Pangolin prediction score differs from local prediction #81

Open RChanColor opened 13 hours ago

RChanColor commented 13 hours ago

The Pangolin predictions from the SpliceAI Lookup have consistently match my locally computed Pangolin predictions. However, I noticed today that a Pangolin prediction from the SpliceAI Lookup website did not match.

E.g. https://spliceailookup.broadinstitute.org/#variant=16-23637674-C-T&hg=37&distance=50&mask=1&ra=0 The SpliceAI Lookup web tool predicted a splice site loss at 44bp with a ∆score = -0.50, and the locally predicted ∆score for the same splice site loss is -0.28.

bw2 commented 13 hours ago

Are you running pangolin using gene annotations that are equivalent to this Gencode v46 transcript definition?

(PALB2 ( ENSG00000083093.12_17 / ENST00000697383.1_3 / NM_001407314.1)

Also, which pangolin version are you using?

RChanColor commented 12 hours ago

I ran Pangolin on an older laptop that has since been replaced, but the Gencode version was certainly older than v46. I also used Pangolin version 1.0.1. The transcript I use for PALB2 is ENST00000261584 (GRCh37) that's equivalent to the MANE Select ENST00000261584.9 (GRCh38). The relative location of the predicted splice site loss is the same at 44bp. The only difference is the ∆scores.