LiuzLab / AI_MARRVEL

AI-MARRVEL (AIM) is an AI system for rare genetic disorder diagnosis
GNU General Public License v3.0
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Potential bug due to the old version of bcftools #36

Closed jylee-bcm closed 3 months ago

jylee-bcm commented 4 months ago

Describe the bug The version of bcftools is 1.9, while the latest version of the time I am writing is 1.20, and between the two versions, there exist different behaviors when handling vcf data with --filter-regions or -R options. It was reported in the official repository on the following links: https://github.com/samtools/bcftools/issues/221, https://github.com/samtools/bcftools/issues/1374, and they are fixed since 1.12 version.

Expected behavior The following command should work

bcftools filter --regions-file /data_dependencies/filter_exonic/hg19.bed ./wgs.vcf.gz -Oz -o recode.vcf.gz
tabix -p vcf recode.vcf.gz 

Input data vcffile: wgs.vcf.gz bedfile: s3://aim-data-dependencies-2.0/filter_exonic/hg19.bed

Screenshots or pipeline output image

Additional context Even though the current version is not using the parameter, I was about to use the parameter to implement exonic filter on the pipeline, and found out it was not working on the docker while it worked on my machine, which had higher version of bcftools.

jylee-bcm commented 3 months ago

Merged