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Check for non-symbolic alt alleles before left aligning in liftover #1909

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merged 1 commit into from Aug 10, 2023

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kachulis
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@kachulis kachulis commented Aug 9, 2023

During liftover, if the strand switches for an indel, the indel will be left aligned and trimmed. However, in determining whether a variant is an indel to be left aligned, any variant with a multi-character REF allele is marked as an indel and left aligned. The problem is that if all the alt alleles are either symbolic or spanning-deletions, then the left alignment algorithm will left align the variant all the way to the beginning of the contig, where it will set the REF allele to N.

While a variant with a multi-character REF and only symbolic/spanning-del alt seems a bit odd, as far as I can tell it is allowed by the vcf spec, and it can occur fairly naturally in the wild by splitting multiallelics on a vcf which includes spanning deletions. For example

POS   REF        ALT
100    AC         A,*

---> split multiallelics
POS   REF        ALT
100    AC         A
100    AC         *

fixes #1899

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@kachulis Good find. Looks good to me.

@kachulis kachulis merged commit 8915c13 into master Aug 10, 2023
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@kachulis kachulis deleted the ck_liftover_spanning_deletion_alignment branch August 10, 2023 15:23
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