Skip to content

SV report consolidation algorithm #1

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

Closed
naumenko-sa opened this issue Aug 3, 2018 · 0 comments
Closed

SV report consolidation algorithm #1

naumenko-sa opened this issue Aug 3, 2018 · 0 comments

Comments

@naumenko-sa
Copy link
Owner

Problem:
bcbio calls SVs with MetaSV on per sample basis, when analyzing families, we need to intersect individual SV reports to have one report for a family, something like bedtools multiint does.

Solution:

  1. We are intersecting all SV intervals vs the indervals from the 1st sample (a random one).
  2. For every SV event we report whether it is present in every sample.
  3. If an event in one sample intersects with two events in the other sample, we report both events in the corresponding column.
  4. We are NOT merging SV intervals, because of many potential bugs (DGV frequency in particular).
  5. For the joint report we report DGV frequency for the event in the first sample and SVscores.
  6. Final report format is CSV, use ; for multiple SV hits in one sample.
naumenko-sa pushed a commit that referenced this issue Jan 3, 2019

Verified

This commit was created on GitHub.com and signed with GitHub’s verified signature. The key has expired.
New GeneAnnotations class
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