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

Allelle swap QC misses some counters #137

Open
abought opened this issue Mar 27, 2024 · 0 comments
Open

Allelle swap QC misses some counters #137

abought opened this issue Mar 27, 2024 · 0 comments

Comments

@abought
Copy link
Contributor

abought commented Mar 27, 2024

Purpose

A recent change in minimac 4.1 lead to confusing error messages: jobs were being rejected without an error message, when minimac failed due to allele swaps.

The CG QC pipeline was recently amended with an option to check allele swaps, but it appears to be incomplete. The UM team has noted two issues:

  1. What counters are checked, and,
  2. How those counters are calculated

Proposed changes

Check both counters for swaps

Allele switches/swaps may be tracked in two separate counters: "allele switch" or "allele switch + strand flips".

Strand flips check both of these counters, but allele swaps check only one of the two applicable counters.

By generating our own test data, we have verified that jobs are not correctly failed in a scenario of mixed "allele swaps + strand flips".

Allele swaps should be written to excludedsnps

Jonathan notes that the handling of Allele switches is not consistent with other QC conditions. Of the four conditions in this block: strand flips and allele mismatches are written to excluded snps, but allele switches are not.

The GenomicTools.AlleleSwitch() condition should both return and write to the exludedSnps file as it does in the other conditions.

As an example, compare the code for these two conditions.

abought added a commit to statgen/imputationserver that referenced this issue Apr 18, 2024
abought added a commit to statgen/imputationserver that referenced this issue Apr 18, 2024
abought added a commit to statgen/imputationserver that referenced this issue Apr 19, 2024
abought added a commit to statgen/imputationserver that referenced this issue Apr 19, 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

1 participant