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

Detect deletion between gene and pseudogenes #42

Open
keenhl opened this issue Nov 7, 2023 · 0 comments
Open

Detect deletion between gene and pseudogenes #42

keenhl opened this issue Nov 7, 2023 · 0 comments

Comments

@keenhl
Copy link

keenhl commented Nov 7, 2023

We are trying to detect a deletion using Nanopore long read data. We think that the size of the deletion is something around 10-15 kb in size, although we are not sure. We have used both minimap and winnowmap for the alignment and sniffles for the variant calling. We have not been able to detect the deletion.

We believe that this difficulty might be attributable to the fact that the deletion is near a gene and its highly homologous pseudogene. We have only used standard parameters thus far. Are there parameters that would make sense to alter for this case? Is there something completely different in terms of our alignment strategy that we should be doing here?

Thanks for your help,

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