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Stop producing empty alleles #17

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bricoletc opened this issue Aug 11, 2020 · 2 comments
Open

Stop producing empty alleles #17

bricoletc opened this issue Aug 11, 2020 · 2 comments
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@bricoletc
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make_prg can produce sites with i) direct deletions (eg REF AT, ALT "") ii) direct insertions (eg REF "", ALT AT). I refer to REF as the first allele in the site, that's how we embed a 'reference' in gramtools.

Though @mbhall88 has rightly pointed a site made by this tool does not have to translate to one in pandora/gramtools, I argue if we fix this problem here, there's no need to deal with it there. This is especially relevant for gramtools as by default each site produced here is a variant site in the output of genotype. It is also important since vcf spec (https://github.com/samtools/hts-specs/blob/master/VCFv4.3.pdf section 1.6.1) states neither REF nor ALT should be empty.

I will have a look at how to fix this

@bricoletc bricoletc self-assigned this Aug 11, 2020
@rmcolq
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rmcolq commented Aug 11, 2020 via email

@bricoletc
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Thanks for pointing this out @rmcolq , indeed it looks like we can't easily prepend/postpend sequence to non-match intervals to guarantee the recursive clustering won't eventually hit an empty sequence. However i'd like to at least try to enforce that at 'level 1' we can have that guarantee- WIP!

bricoletc added a commit that referenced this issue Aug 12, 2020
@bricoletc bricoletc mentioned this issue Aug 12, 2020
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bricoletc added a commit that referenced this issue Nov 18, 2020
bricoletc added a commit that referenced this issue Nov 18, 2020
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