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

Correct HGVS nucleotide names to be indexed from the start of the reference genome #165

Open
miseminger opened this issue Apr 26, 2024 · 0 comments · Fixed by #163
Open
Assignees
Labels
bug Something isn't working

Comments

@miseminger
Copy link
Collaborator

miseminger commented Apr 26, 2024

Currently, the HGVS nucleotide names from the VCFs, created by SnpEff, give the nucleotide mutation position as referenced from the start of the protein. HGVS recommendations require the position to be given with respect to the reference nucleotide sequence.

So, we can either:

  1. rewrite those positions to match the number in the pos column, or
  2. put the transcript identifier in brackets, eg. NG_012232.1(NM_004006.2):c.93G>T
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
bug Something isn't working
Projects
None yet
1 participant