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In the genotype_sv result, the REF filed is N, and the ALT filed is not a sequence. #146

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tanger-code opened this issue Jan 24, 2024 · 0 comments

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@tanger-code
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Hi.
I'm genotyping SVs in the HG002 sample. The command I used is

for i in {1..22}
do
  $graphtyper genotype_sv $ref_file_folder/GCA_chr${i}.fa  $vcf_folder/chr${i}_sv/chr${i}.vcf.gz --sam=$bam_file_folder/chr${i}_surject_chr_sort.bam --region=chr${i} --output="graphtyper_chr${i}" &
done
wait

The fasta file I used is : GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gz.
The vcf file is from : T2TQ100_draftBenchmark.
And I split them up at the chromosomal level.

But the result VCF has some error.
In some records, the REF filed is N, and the ALT filed is not a sequence:
image
image

Why does this happen?The fasta file is not N in the corresponding position.

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