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

NGSDAnnotateCNV: improve annotation of overlapping pathogenic CNVs #591

Open
marc-sturm opened this issue Nov 8, 2024 · 0 comments
Open
Assignees

Comments

@marc-sturm
Copy link
Member

marc-sturm commented Nov 8, 2024

[ ] Check if this query really gives all overlapping pathogenic CNVs from the NGSD:

SELECT rcc.class, cnv.start, cnv.end FROM cnv INNER JOIN report_configuration_cnv rcc ON cnv.id = rcc.cnv_id WHERE rcc.class IN ('4', '5') AND cnv.chr = :0 AND cnv.start <= :1 AND :2 <= cnv.end

[ ] only annotate if overlap in both directions is at least 10% of the CNV

@marc-sturm marc-sturm changed the title CNV annotation: overlapping pathogenic CNVs NGSDAnnotateCNV: improve annotation of overlapping pathogenic CNVs Nov 8, 2024
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

2 participants