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the vcf file from haplotypecaller was not annotated by snpeff and vep #1722

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ybdong919 opened this issue Nov 2, 2024 · 2 comments
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@ybdong919
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Description of the bug

After I got snp vcf files from strelka, freebayes, mpileup, and haplotypecaller, I tried to annotate them by snpeff and vep. Finally, the vcf file from haplotypecaller was not annotated by snpeff and vep, but other vcf files from strelka, freebayes and mpileup are all successfully annotated by snpeff and vep.
Do you know why?

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@ybdong919 ybdong919 added the bug Something isn't working label Nov 2, 2024
@FriederikeHanssen
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Can you please share the command you used & the version of sarek you ran?

@ybdong919
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  1. Params.yaml:

input: './samplesheet.csv'
outdir: './results/'
#genome: 'null'
tools: 'mpileup,haplotypecaller,freebayes,strelka,snpeff,vep'
skip_tools: 'baserecalibrator,baserecalibrator_report,dnascope_filter'
#step: 'annotate'
igenomes_ignore: 'true'
snpeff_cache: '//snpeff_cache'
snpeff_db: 'MN908947.3'
vep_cache: '//vep_cache'
vep_species: 'sars_cov_2'
vep_genome: 'ASM985889v3'
vep_cache_version: '101'

fasta: '//nCoV-2019.reference.fasta'
fasta_fai: '//nCoV-2019.reference.fasta.fai'
only_paired_variant_calling: 'true'

  1. The running command is:
    $nextflow run ./sarek/main.nf -profile singularity -params-file params.yaml

  2. sarek version is :
    https://github.com/asp8200/sarek/tree/modify_snpeff_cache_setup

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