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

Add SQUIRLS in silico splice annotations #318

Open
anneodonnell opened this issue Mar 7, 2022 · 4 comments
Open

Add SQUIRLS in silico splice annotations #318

anneodonnell opened this issue Mar 7, 2022 · 4 comments

Comments

@anneodonnell
Copy link

Interpretable prioritization of splice variants in diagnostic next-generation sequencing (2021)

PMID: 34289339

Pre-computed files: https://squirls.readthedocs.io/en/latest/setup.html
Script for offline scoring: https://squirls.readthedocs.io/en/latest/running.html
Pre-compiled software version: https://github.com/TheJacksonLaboratory/Squirls/releases

More info compiled by Ikeoluwa: https://docs.google.com/document/d/1AuNvgkQGxBkwpr6Fma2D3Tai2wMbsBtL5HFGEYH63qQ/edit?usp=sharing

@lynnpais
Copy link
Collaborator

Extraordinarily high amount of SE work. Decided not to implement for now.

@bpblanken
Copy link
Collaborator

@lynnpais some of the SV work we're doing will make this much easier. We can do this in 1-2 days of work now if we'd like to reconsider.

@lynnpais
Copy link
Collaborator

Do it around time of the SV work

@lynnpais
Copy link
Collaborator

Blocked on migrating Airflow to Luigi

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

No branches or pull requests

3 participants