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There are mainly two ways to represent a reference block in a VCF:
Illumina
chr1 100 A . END=150 GT:DP 0/0:50
GATK
chr1 100 A <NON_REF> END=150 GT:DP:AD 0/0:50:49,1
The GATK way allows more detail in some fields that depend on the number of alleles, like AD. It is also possible to see combinations in multi-allelic variants:
chr1 100 A C,<NON_REF> . GT:DP:AD 0/1:50:29,20,1
Also, this is almost the same solution proposed by the VCF4.3, which only changes the symbolic alternate with <*>
Normalize
The normalization should replace the alternate <NON_REF> with <*> to follow the VCF specification.
The normalizer, when splitting multi-allelic variants, should not generate variants with this allele as the main allele
Merge
When merging a variant with this type of reference block, it should add a new secondary alternate
Tasks
Improve VariantBuilder::inferType to recognize <NON_REF> and <*> as NO_VARIATION
In the VariantNormalizer, normalize the alternate <NON_REF> into <*>
In the VariantNormalizer, when splitting a variant, do not generate the variant with <*> as main alternate
In the VariantMerger, if a variant overlaps with a symbolic NO_VARIATION, add it as a secondary alternate
The text was updated successfully, but these errors were encountered:
There are mainly two ways to represent a reference block in a VCF:
Illumina
GATK
The GATK way allows more detail in some fields that depend on the number of alleles, like
AD
. It is also possible to see combinations in multi-allelic variants:Also, this is almost the same solution proposed by the VCF4.3, which only changes the symbolic alternate with
<*>
Normalize
<NON_REF>
with<*>
to follow the VCF specification.Merge
When merging a variant with this type of reference block, it should add a new secondary alternate
Tasks
<NON_REF>
and<*>
as NO_VARIATION<NON_REF>
into<*>
<*>
as main alternateThe text was updated successfully, but these errors were encountered: