Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

in some rare occasions lead_enrichment is NA even gnomad annotation exists #188

Open
Fedja opened this issue Jun 29, 2021 · 1 comment
Open
Assignees

Comments

@Fedja
Copy link
Contributor

Fedja commented Jun 29, 2021

attached examples from r5 rerun for flagship
missing_lead_enrich_for_arto.txt

@Lipastomies
Copy link
Collaborator

lead enrichment is calculated from the gnomad genome annotation, gs://fg-datateam-analysisteam-share/gnomad/2.1/genomes/gnomad.genomes.r2.1.sites.liftover.b38.finngen.r2pos.af.ac.an.tsv.gz

None of the variants in that list are in that annotation file. They weren't in the exome annotation file either. I suspect it is possible those variants were not lifted properly in the annotation files.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

2 participants