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.

Sign up for GitHub

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

Jump to bottom

vcf-anno: Investigate poor matching of longer indels with clinvar VCF #263

Open

2 tasks

alkc opened this issue Nov 22, 2024 · 0 comments

Open

2 tasks

vcf-anno: Investigate poor matching of longer indels with clinvar VCF #263

alkc opened this issue Nov 22, 2024 · 0 comments

Labels

bug vep

Contributor

alkc commented Nov 22, 2024

Reported by @ViktorHy

vcf-anno sometimes does not do a good job matching indels w/ longer ref/alt values with Clinvar data, which expects shorter annotations

Reproduce bug
Can we use VEP instead?

alkc added bug vep labels

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment