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norm doesn't normalize <DUP> symbolic variants #2145

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davmlaw opened this issue Apr 2, 2024 · 1 comment
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norm doesn't normalize <DUP> symbolic variants #2145

davmlaw opened this issue Apr 2, 2024 · 1 comment

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@davmlaw
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davmlaw commented Apr 2, 2024

I raised an issue as #1919 "norm doesn't normalize symbolic variants" but it was closed after only fixing <DEL> - so there's no open issue for all of the other symbolic variants which are still affected.

<DUP> is the next most common indel I guess so I've attached a normal VCF (which is normalized) and a symbolic representation of the same variant (which is not) as a test case:

bcftools_norm.zip

bcftools norm norm_dup_grch38.vcf -f /data/annotation/fasta/GCF_000001405.39_GRCh38.p13_genomic.fna.gz

The explicit alt one gets left aligned:

#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
NC_000001.11	117395877	.	G	GGATTACA	.	PASS	.
Lines   total/split/realigned/skipped:	1/0/1/0
@pd3
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pd3 commented Apr 27, 2024

This is now supported.

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