epi2me-labs / wf-human-variation

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dbNSFP for snps annotation #162

Closed blanleung closed 2 weeks ago

blanleung commented 3 months ago

Ask away!

Hi, As I understand we can annotate SNPs with ClinVar. Would it be possible to add dbNSFP annotation too? Thanks

vlshesketh commented 2 months ago

Hi @blanleung, apologies for the delay in responding. We are currently reviewing the annotation module of the workflow and I will update here once we have a decision on if/how additional resources can be included.

vlshesketh commented 2 weeks ago

Hi again @blanleung - sorry it's taken a while to get back to you! As we have some integration with tertiary analysis partners planned for this workflow via the EPI2ME desktop application, we have no plans at the moment to include any further annotation sources directly in wf-human-variation.