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 final filters on variant list #140

Open
ihodes opened this issue Jan 23, 2017 · 2 comments
Open

Add final filters on variant list #140

ihodes opened this issue Jan 23, 2017 · 2 comments

Comments

@ihodes
Copy link
Member

ihodes commented Jan 23, 2017

For e.g., I want to get rid of all variants that have evidence of the variant allele appearing in the normal reads of, say, more than 1%. A lot of the variants I reject in manual review have a few reads showing the variant allele in normal.

Other conditions like overall errors in the reads, mapq, etc, might be work adding.

This would require some sort of integration with Vaxrank (or this could be a feature in Vaxrank, to keep things simpler; Vaxrank would then need to take Normal/Tumor BAMs as well, which might be a nice thing).

@iskandr
Copy link
Member

iskandr commented Jan 23, 2017

Ha, Vaxrank will evolve into @timodonnell's Varlens read evidence filtering :-)

I think we should these things to Vaxrank if we want to keep the variants but down-weight those that fail certain rules. If we have rules for automatically dropping variants altogether then we should use Varlens or some similar tool.

@iskandr
Copy link
Member

iskandr commented Jan 23, 2017

One pattern I've observed is reads with inconsistent patterns of adjacent mismatches by a variant.

If every variant supporting read also contains one other mismatch consistently, then I would assume we're capturing two co-occurring variants. If, on the other hand, every read has different mismatches then I would assume that we called the variant by chance or at least that there is something difficult about the alignment region.

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

2 participants