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

Allow poorpipe long read sequencing uploads #4395

Closed
dnil opened this issue Feb 1, 2024 · 4 comments
Closed

Allow poorpipe long read sequencing uploads #4395

dnil opened this issue Feb 1, 2024 · 4 comments
Assignees

Comments

@dnil
Copy link
Collaborator

dnil commented Feb 1, 2024

Similar to #3993 - which appears stale atm. Development is in parallel on several pipes, but we have some data from https://github.com/J35P312/poorpipe so it sails up as the first to fix. Several issues are likely to be similar.

Let's do a MVP first, with just allowing uploads with the current VEP version annotation. That will be needed for e.g. the NF-core rare-disease soon as well. The data I have from poorpipe is VEP 107, and the NF-core dev is VEP 110.

A couple of obvious things:

  • gnomad frequency key appears to have changed
  • (we have a new VAF FORMAT field - will be esp nice for somatic data)

Dev data available on e.g. /home/proj/development/rare-disease/ONT/analysis/poorpipe/2023-34375-05/

@dnil dnil self-assigned this Feb 1, 2024
@dnil
Copy link
Collaborator Author

dnil commented Feb 1, 2024

Testing an upload, after some hardfiltering and genmod:ding.

2024-02-01 22:29:54 hasta.scilifelab.se scout.adapter.mongo.variant_loader[196268] INFO Nr variants parsed: 502435
2024-02-01 22:29:54 hasta.scilifelab.se scout.adapter.mongo.variant_loader[196268] INFO Nr variants inserted: 25473
2024-02-01 22:29:54 hasta.scilifelab.se scout.adapter.mongo.variant_loader[196268] DEBUG Nr bulks inserted: 8472
2024-02-01 22:29:54 hasta.scilifelab.se scout.adapter.mongo.variant_loader[196268] INFO Updating variant_rank for all variants
2024-02-01 22:30:03 hasta.scilifelab.se scout.adapter.mongo.variant_loader[196268] INFO Updating variant_rank done
2024-02-01 22:30:03 hasta.scilifelab.se scout.adapter.mongo.case[196268] DEBUG didn't find vcf_sv, skipping
2024-02-01 22:30:03 hasta.scilifelab.se scout.adapter.mongo.case[196268] DEBUG didn't find vcf_cancer, skipping
2024-02-01 22:30:03 hasta.scilifelab.se scout.adapter.mongo.case[196268] DEBUG didn't find vcf_cancer_sv, skipping
2024-02-01 22:30:03 hasta.scilifelab.se scout.adapter.mongo.case[196268] DEBUG didn't find vcf_str, skipping
2024-02-01 22:30:03 hasta.scilifelab.se scout.adapter.mongo.case[196268] DEBUG didn't find vcf_mei, skipping
2024-02-01 22:30:03 hasta.scilifelab.se scout.adapter.mongo.case[196268] DEBUG didn't find vcf_fusion, skipping
2024-02-01 22:30:03 hasta.scilifelab.se scout.adapter.mongo.case[196268] INFO Loading case F0056610 into database

@dnil
Copy link
Collaborator Author

dnil commented Feb 1, 2024

This looks like Nanopore allright (https://scout-stage.scilifelab.se/cust002/F0056610):
Screenshot 2024-02-01 at 22 33 56
Good enough! 😸
Screenshot 2024-02-01 at 22 33 31

@dnil
Copy link
Collaborator Author

dnil commented Feb 23, 2024

Now also a tentative SV view:
https://scout-stage.scilifelab.se/cust002/F0057045

@dnil
Copy link
Collaborator Author

dnil commented Feb 23, 2024

As soon as we have tags for them, add new callers:

SV

  • sniffles, sniffles2
  • CNVpytor

STR

  • trgt

This was referenced Feb 29, 2024
@dnil dnil closed this as completed in 8d83f25 Apr 30, 2024
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

1 participant