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1 variants skipped: (qual filtered / ref genotypes / invalid syntax) #123

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xmy1990 opened this issue Jul 16, 2024 · 4 comments
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@xmy1990
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xmy1990 commented Jul 16, 2024

hi,
I want to insert 4 indels use neat v3.0 and get the follow log,
found 3 valid variants in input vcf.

  • 1 variants skipped: (qual filtered / ref genotypes / invalid syntax)
  • 0 variants skipped due to multiple variants found per position

the skipped variant had a 0/0 genotype, the other 3 variants all had a 1/1 genotype.

genotype is the reason for being skipped?

I found the same issue : #74

Thanks

@joshfactorial
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Right, NEAT will skip variants with a 0/0 genotype, as there is nowhere to insert it.

@xmy1990
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xmy1990 commented Jul 17, 2024

@#123 (comment)
Thank you so much!
I still have three issues:

  • I'm a beginner and I don't quite understand why there's no place to insert 0/0.

  • Could you explain **in simple terms what the software requires for genotypes? **

  • If I don't input a genotype, will it randomly assign one?

@joshfactorial
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A 0/0 genotype indicates both alleles matched the reference. Basically, it's saying the variant isn't actually present in specimen. For a heterozygous variant, it would be either 1/0 or 0/1, or for homozygous, you'd have 1/1. To save some processing time, NEAT will ignore 0/0 variants up front and throw them out. So long as at least one allele has the variant (a '1' somewhere) then it will take it.

Yes, NEAT will generate a random genotype if it doesn't find one.

@xmy1990
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xmy1990 commented Jul 19, 2024

Thank you very much for the detailed response. I understand now.

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