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

Normalizer generates inconsistent description formats for repeats at c. and r. level with c. duplication input #31

Open
ptaschner opened this issue Sep 27, 2023 · 0 comments

Comments

@ptaschner
Copy link

Normalizer input NM_001003187.1:c.877_879dup results in correction to NM_001003187.1:c.876_879[7] due to the repeat expansion, but generates NM_001003187.1:r.(876_879delinsccccccc) for the same repeat at the RNA level (see https://mutalyzer.nl/normalizer/NM_001003187.1:c.877_879dup).
Re-checking NM_001003187.1:r.(876_879delinsccccccc) results in correction to NM_001003187.1:r.876_879[7], which I was expecting in case of consistent application of the repeat rules (see https://mutalyzer.nl/normalizer/NM_001003187.1:r.(876_879delinsccccccc).
The info message correctly mentions that this transcript is not found in the human chromosomal references, because it is a canine transcript.

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

1 participant