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Variant filter representation #194

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nealsid opened this issue Mar 28, 2014 · 4 comments
Closed

Variant filter representation #194

nealsid opened this issue Mar 28, 2014 · 4 comments
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@nealsid
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nealsid commented Mar 28, 2014

VCF format specifies that the FILT column can take on the following values:

"PASS" - variant passed all filters
Comma-separated list of failing filters - filters that the variant call failed
"." - no filter applied

(see http://gatkforums.broadinstitute.org/discussion/3401/filter-column-in-vcf-file-from-haplotypecaller for a discussion on the output of the haplotype caller)

Right now, we have two fields in VariantCallingAnnotations:

boolean variantIsPassing
array<string> variantFilters

This table indicates the value of each variable for the different scenarios:

Scenario variantIsPassing variantFilters
Variant Passed true empty
Variant failed filter false failing filter list
No filters applied true empty

@mlinderm brought up that there is some ambiguity - we don't know the difference between variant passing and no filters applied without checking another field (the list of filters applied), and also people doing analysis were only likely to check the boolean, since that's what is done with the VCF field. The proposal is to go back to the original way, which was:

union { null, boolean }  variantIsFiltered = null;
array<string> failingFilters = null;

New table:

Scenario variantIsFiltered failingFilters
Variant Passed false empty
Variant failed filter true failing filter list
No filters applied null empty

Note that in the case where the variant passed, the passing filters should still be available from the VCF header.

Thoughts?

@tdanford
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Neal, I presume you're still waiting for comments on this one?

@heuermh
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heuermh commented Oct 7, 2015

See also:
Adding quality, filtersFailed, and filtersPassed to Variant ga4gh/ga4gh-schemas#304

@fnothaft
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fnothaft commented Jul 6, 2016

Shall we close this?

@heuermh
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heuermh commented Nov 15, 2016

Fixed by #1250

@heuermh heuermh closed this as completed Nov 15, 2016
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